Publications by authors named "Eloi Magnin"

72 Publications

Added value of functional neuroimaging to assess decision-making capacity of older adults with neurocognitive disorders: protocol for a prospective, monocentric, single-arm study (IMAGISION).

BMJ Open 2021 Sep 29;11(9):e053549. Epub 2021 Sep 29.

Laboratoire de Recherches Intégratives en Neurosciences et Psychologie Cognitive - UR LINC, Université Bourgogne Franche Comté, Besancon, France.

Introduction: Assessment of decision-making capacity (DMC) is essential in daily life as well as for defining a person-centred care plan. Nevertheless, in ageing, especially if signs of dementia appear, it becomes difficult to assess decision-making ability and raises ethical questions. Currently, the assessment of DMC is based on the clinician's evaluation, completed by neuropsychological tests. Functional MRI (fMRI) could bring added value to the diagnosis of DMC in difficult situations.

Methods And Analysis: IMAGISION is a prospective, monocentric, single-arm study evaluating fMRI compared with clinical assessment of DMC. The study will begin during Fall 2021 and should be completed by Spring 2023. Participants will be recruited from a memory clinic where they will come for an assessment of their cognitive abilities due to decision-making needs to support ageing in place. They will be older people over 70 years of age, living at home, presenting with a diagnosis of mild dementia, and no exclusion criteria of MRI. They will be clinically assessed by a geriatrician on their DMC, based on the neuropsychological tests usually performed. Participants will then perform a behavioural task in fMRI (Balloon Analogue Risk Task) to analyse the activation areas. Additional semistructured interviews will be conducted to explore real life implications. The main analysis will study concordance/discordance between the clinical classification and the activation of fMRI regions of interest. Reclassification as 'capable', based on fMRI, of patients for whom clinical diagnosis is 'questionable' will be considered as a diagnostic gain.

Ethics And Dissemination: IMAGISION has been authorised by a research ethics board (Comité de Protection des Personnes, Bordeaux, II) in France, in accordance with French legislation on interventional biomedical research, under the reference IDRCB number 2019-A00863-54, since 30 September 2020. Participants will sign an informed consent form. The results of the study will be presented in international peer-reviewed scientific journals, international scientific conferences and public lectures.

Trial Registration Number: NCT03931148.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1136/bmjopen-2021-053549DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8483026PMC
September 2021

Neural Activation in Risky Decision-Making Tasks in Healthy Older Adults: A Meta-Analysis of fMRI Data.

Brain Sci 2021 Aug 6;11(8). Epub 2021 Aug 6.

Centre de Recherche Institut Universitaire de Gériatrie de Montréal, Université de Montréal, Montréal, QC H3W 1W6, Canada.

Decision making is a complex cognitive phenomenon commonly used in everyday life. Studies have shown differences in behavioral strategies in risky decision-making tasks over the course of aging. The development of functional neuroimaging has gradually allowed the exploration of the neurofunctional bases of these behaviors. The purpose of our study was to carry out a meta-analysis on the neural networks underlying risky decision making in healthy older adults. Following the PRISMA guidelines, we systematically searched for fMRI studies of decision making in older adults using risky decision-making tasks. To perform the quantitative meta-analysis, we used the revised version of the activation likelihood estimation (ALE) algorithm. A total of 620 references were selected for initial screening. Among these, five studies with a total of 98 cognitively normal older participants (mean age: 69.5 years) were included. The meta-analysis yielded two clusters. Main activations were found in the right insula, bilateral dorsolateral prefrontal cortex (dlPFC) and left orbitofrontal cortex (OFC). Despite the limited number of studies included, our meta-analysis highlights the crucial involvement of circuits associated with both emotion regulation and the decision to act. However, in contrast to the literature on young adults, our results indicate a different pattern of hemispheric lateralization in older participants. These activations can be used as a minimum pattern of activation in the risky decision-making tasks of healthy older subjects.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.3390/brainsci11081043DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8393360PMC
August 2021

Evaluation of Attachment Style and Social Support in Patients With Severe Migraine. Applications in Doctor-Patient Relationships and Treatment Adherence.

Front Neurol 2021 12;12:706639. Epub 2021 Jul 12.

Département de Neurologie, Centre Hospitalier Universitaire de Besançon, Besançon, France.

The aim of this observational study was to describe social support and patterns of attachment among patients with migraine. We hypothesized that in comparison to the general population, insecure attachment is overrepresented in migraine patients, and that these patients have less social support. We also aimed to study the specific relationship between attachment and social support. We hypothesized that patients with an insecure attachment style have less social support than patients with a secure attachment style. A total of 101 consecutive patients (88.1% women) aged between 25 and 60 (average age = 41.4) were recruited at the Specialized Center for the Consultation of Primary Headaches at the Regional University Hospital Center of Besançon (France). Migraine impact and disability were evaluated using the Headache Impact Test (HIT-6) questionnaire and Migraine Disability Assessment (MIDAS) questionnaire. Patients also completed several self-administered psychological questionnaires in their validated French versions: the Medical Outcome Survey 36-Item Short-Form Health Survey, the Cungi Scale, the State-Trait Anxiety Inventory, the Beck Depression Inventory, the Relationship Scales Questionnaire and the Sarason's Social Support Questionnaire. The distribution of attachment profiles was different from that of the general population, with an overrepresentation of insecure attachment styles ( = 0.018). Our study showed that migraine patients had less social support than the general population, both in terms of the number of people providing support ( = 0.002) and the level of satisfaction concerning this social support (p = 0.000). We also found that neither the number of available persons score nor the satisfaction score were statistically different between the four attachment categories ( = 0.49). Patient's attachment style and social support influence the patient-doctor relationship, the therapeutic alliance and health behaviors such as treatment adherence. Based on the data we obtained, we developed applications in patient care for people with particular attachment styles and low social support. A treatment plan adapted to the patient's attachment profile should be created to develop "precision medicine" using a personalized approach to the doctor-patient relationship. We would also recommend encouraging patients to participate in support groups, in order to strengthen their attachment systems and gain social support. https://clinicaltrials.gov/ct2/show/NCT03577548, identifier NCT03577548.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.3389/fneur.2021.706639DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8313122PMC
July 2021

Repetitive Transcranial Magnetic Stimulation as an Add-On Treatment for Cognitive Impairment in Alzheimer's Disease and Its Impact on Self-Rated Quality of Life and Caregiver's Burden.

Brain Sci 2021 Jun 3;11(6). Epub 2021 Jun 3.

Laboratoire de Recherches Intégratives en Neurosciences et Psychologie Cognitive, Université Bourgogne Franche-Comté, 25000 Besançon, France.

Alzheimer's disease (AD) is associated with progressive memory loss and decline in executive functions, as well as neuropsychiatric symptoms. Patients usually consider quality of life (QoL) and mood as more important for their health status than disease-specific physical and mental symptoms. In this open-label uncontrolled trial, 12 subjects diagnosed with AD underwent 10 sessions of repetitive transcranial magnetic stimulation (rTMS) over the left dorsolateral prefrontal cortex (10 Hz, 20 min, 2000 pulses/day, 110% MT). Outcomes were measured before and 30 days after treatment. Our primary objective was to test the efficacy of rTMS as an add-on treatment for AD on the global cognitive function, assessed through the Mini-Mental State Examination (MMSE) and the Mattis Dementia Rating Scale (MDRS). As secondary objectives, the detailed effect on cognitive functions, depression and anxiety symptoms, QoL, and functionality in daily life activities were evaluated, as well as correlations between QoL and cognition, depression and anxiety scores. The treatment significantly enhanced semantic memory and reduced anxiety. Improvement of these features in AD could become an important target for treatment strategies. Although limited by its design, this trial may contribute with another perspective on the analysis and the impact of rTMS on AD.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.3390/brainsci11060740DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8227849PMC
June 2021

[Neurodevelopmental disorders modify neurodegenerative diseases: a medical history to screen in memory clinic].

Geriatr Psychol Neuropsychiatr Vieil 2021 Jun;19(2):181-190

Centre Mémoire Ressources et Recherche (CMRR), Centre Expert Parkinson (CEP), Service de neurologie, CHRU de Besançon, France, Centre expert troubles bipolaires et dépression résistante, Service de psychiatrie, CHRU de Besançon, France.

Neurodevelopmental disorders are frequent in the general population and are often lifelong conditions despite sometimes being masked by conscious or unconscious compensation and avoidance mechanisms. These conditions are often unknown or underestimated in adults, even when diagnosed in childhood. Neurodevelopmental disorders share similarities with and frequently interact in a complex way with neurodegenerative disorders. Considering these aspects during memory clinic assessments can provide a new perspective on lifelong neurocognitive trajectories. Assessing both neurodevelopmental and neurodegenerative dimensions is challenging but should improve diagnostic accuracy. It is therefore necessary to understand the lifelong specific neurocognitive trajectory of each patient in order to develop personalized and focused cognitive medicine and care.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1684/pnv.2021.0936DOI Listing
June 2021

Clinical and neuropathological diversity of tauopathy in MAPT duplication carriers.

Acta Neuropathol 2021 08 6;142(2):259-278. Epub 2021 Jun 6.

Normandie Univ, UNIROUEN, Inserm U1245, CHU Rouen, Department of Genetics and CNR-MAJ, F-76000, Rouen, France.

Microduplications of the 17q21.31 chromosomal region encompassing the MAPT gene, which encodes the Tau protein, were identified in patients with a progressive disorder initially characterized by severe memory impairment with or without behavioral changes that can clinically mimic Alzheimer disease. The unique neuropathological report showed a primary tauopathy, which could not be unanimously classified in a given known subtype, showing both 4R- and 3R-tau inclusions, mainly within temporal cortical subregions and basal ganglia, without amyloid deposits. Recently, two subjects harboring the same duplication were reported with an atypical extrapyramidal syndrome and gait disorder. To decipher the phenotypic spectrum associated with MAPT duplications, we studied ten carriers from nine families, including two novel unrelated probands, gathering clinical (n = 10), cerebrospinal fluid (n = 6), MRI (n = 8), dopamine transporter scan (n = 4), functional (n = 5), amyloid (n = 3) and Tau-tracer (n = 2) PET imaging data as well as neuropathological examination (n = 4). Ages at onset ranged from 37 to 57 years, with prominent episodic memory impairment in 8/10 patients, associated with behavioral changes in four, while two patients showed atypical extrapyramidal syndrome with gait disorder at presentation, including one with associated cognitive deficits. Amyloid imaging was negative but Tau imaging showed significant deposits mainly in both mesiotemporal cortex. Dopaminergic denervation was found in 4/4 patients, including three without extrapyramidal symptoms. Neuropathological examination exclusively showed Tau-immunoreactive lesions. Distribution, aspect and 4R/3R tau aggregates composition suggested a spectrum from predominantly 3R, mainly cortical deposits well correlating with cognitive and behavioral changes, to predominantly 4R deposits, mainly in the basal ganglia and midbrain, in patients with prominent extrapyramidal syndrome. Finally, we performed in vitro seeding experiments in HEK-biosensor cells. Morphological features of aggregates induced by homogenates of three MAPT duplication carriers showed dense/granular ratios graduating between those induced by homogenates of a Pick disease and a progressive supranuclear palsy cases. These results suggest that MAPT duplication causes a primary tauopathy associated with diverse clinical and neuropathological features.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00401-021-02320-4DOI Listing
August 2021

Neurodevelopmental and Neurodegenerative Similarities and Interactions: A Point of View About Lifelong Neurocognitive Trajectories.

Authors:
Eloi Magnin

J Alzheimers Dis 2021 ;79(4):1397-1407

Department of Neurology, University Hospital of Besançon, Besançon, France.

Neurodevelopmental and neurodegenerative disorders are both growing major public health topics with similarities and frequent complex interactions with each other. Taking these aspects into account can provide a new point of view on lifelong neurocognitive trajectories. Assessing both neurodevelopmental and neurodegenerative dimensions during cognitive and behavioral clinical assessments is challenging but might improve diagnostic accuracy and physiopathological understanding. It is therefore necessary to understand the lifelong specific neurocognitive trajectory of each patient in order to develop personalized precision cognitive medicine.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.3233/JAD-201207DOI Listing
September 2021

Medical teachers' opinions about students with neurodevelopmental disorders and their management.

BMC Med Educ 2021 Jan 6;21(1):16. Epub 2021 Jan 6.

Department of Neurology, Memory Center (CMRR), Centre Hospitalier Universitaire de Besancon, Besançon, France.

Background: Some students have neurodevelopmental disorders that might affect their academic and professional careers if they are not identified and addressed by specific pedagogic adaptations. The objective of this work was to describe medical teachers' opinions of students with neurodevelopmental disorders and their management of these students.

Methods: An anonymous cross-sectional electronic survey was performed to describe medical teachers' opinions about the impact of neurodevelopmental disorders on the student's life and on the medical teachers' management. aThe survey was created, including visual analogic scales and free text, to assess teachers' opinions from identification and assessment of neurodevelopemental burden on students and teachers, to their own knowledge about neurodevelopemental disorders and the specific pedagogic management available. The survey was sent to 175 medical teachers in 2019, of whom 67 responded. Quantitative descriptive statistics and qualitative analysis of free text were reported.

Results: Many medical teachers report having encountered students who might have had neurodevelopmental disorders (dyspraxia 33%; dyslexia 46%; autism spectrum disorders 68%; attention deficit hyperactivity disorders 75%). Impact on students and on teachers was considered as important (mean VAS score for impact over 60/100 for all syndromes except for dyspraxia). Medical teachers' self-reported knowledge about neurodevelopmental disorders (mean VAS score 43.9/100) and available pedagogical adaptations (mean VAS score 19.0/100) was limited. The teachers were concerned about ethical issues (mean VAS score 72.2/100) but were interested in receiving specialized training (mean VAS score 64.4/100).

Conclusion: Medical teachers feel unprepared to manage students with neurodevelopmental disorders. They would be interested in specific training and procedures about the pedagogic management of these students.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12909-020-02413-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7789168PMC
January 2021

Cerebrospinal Fluid Levels of Kininogen-1 Indicate Early Cognitive Impairment in Parkinson's Disease.

Mov Disord 2020 11 15;35(11):2101-2106. Epub 2020 Aug 15.

Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden.

Background: Cognitive impairment is common in patients with PD. Core markers of Alzheimer's dementia have been related also to PD dementia, but no disease-specific signature to predict PD dementia exists to date.

Objectives: The aim of this study was to investigate CSF markers associated with cognition in early PD.

Methods: A high-throughput suspension bead array examined 216 proteins in CSF of 74 PD patients in the AETIONOMY project. Cognitive function was assessed with Repeatable Battery for the Assessment of the Neuropsychological Status, Montreal Cognitive Assessment, and Mini-Mental State Examination.

Results: Of 69 patients with complete data, 34 had high (≥90) and 35 had low Repeatable Battery for the Assessment of the Neuropsychological Status total score (<90). Of 14 proteins in CSF that differed in levels between groups, increased kininogen-1, validated with several antibodies, was independently associated with lower Repeatable Battery for the Assessment of the Neuropsychological Status and Montreal Cognitive Assessment scores after adjustment for confounders.

Conclusions: Kininogen-1 levels in CSF may serve as a marker of cognitive impairment in PD. © 2020 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1002/mds.28192DOI Listing
November 2020

Semantic loss marks early Alzheimer's disease-related neurodegeneration in older adults without dementia.

Alzheimers Dement (Amst) 2020 5;12(1):e12066. Epub 2020 Aug 5.

Centre Inserm U1219 d'Epidémiologie et de Développement (ISPED) Bordeaux School of Public Health Institut de Santé Publique Université de Bordeaux Bordeaux France.

Objective: To assess progression of semantic loss in early stages of cognitive decline using semantic and letter fluency performance, and its relation with Alzheimer's disease (AD)-specific neurodegeneration using longitudinal multimodal neuroimaging measures.

Methods: Change in verbal fluency was analyzed among 2261 non-demented individuals with a follow-up diagnosis of no mild cognitive impairment (MCI), amnestic MCI (aMCI), non-amnestic MCI (naMCI), or incident dementia, using linear mixed models across 4 years of follow-up, and relations with magnetic resonance imaging (MRI; n = 1536) and F-fluorodeoxyglucose brain positron emission tomography (F-FDG-PET) imaging (n = 756) using linear regression models across 2 years of follow-up.

Results: Semantic fluency declined-fastest in those at higher risk for AD (apolipoprotein E [APOE] e4 carriers, Clinical Dementia Rating score of .5, aMCI, or incident dementia)-while letter fluency did not except for those with incident dementia. Lower baseline semantic fluency was associated with an increase in white matter hyperintensities and total mean cortical thinning over time, and regionally with less hippocampal volume as well as more cortical thinning and reduced F-FDG-PET uptake in the inferior parietal lobule, entorhinal cortex, isthmus cingulate, and precuneus-posterior cingulate area. In contrast, baseline letter fluency was not associated with change in total nor regional neurodegeneration. Whole-brain neurodegeneration over time was associated with faster decline in both fluencies, while AD-specific regions were associated with a faster rate of decline in semantic but not letter fluency.

Interpretation: This study provides strong evidence of distinctive degeneration of semantic abilities early on in relation to both cognitive decline and AD-specific neurodegeneration.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1002/dad2.12066DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7403823PMC
August 2020

Comparison of Noninvasive Imagery Methods to Observe Healthy and Degenerated Olfactory Epithelium in Mice for the Early Diagnosis of Neurodegenerative Diseases.

Front Neuroanat 2020 14;14:34. Epub 2020 Jul 14.

Laboratoire de Neurosciences Intégratives et Cliniques, Université Bourgogne-Franche-Comté, Université de Franche-Comté, Besançon, France.

Olfactory dysfunction could be an early and reliable indicator for the diagnosis of neurodegenerative disorders such as Alzheimer and Parkinson's diseases. In this paper, we compare the potential of different noninvasive medical imaging modalities (optical coherence tomography, confocal microscopy, and fluorescence endomicroscopy) to distinguish how the olfactory epithelium, both at the cellular and the structural levels, is altered. Investigations were carried out on three experimental groups: two pathological groups (mice models with deliberately altered olfactory epithelium and Alzheimer's disease transgenic mice models) were compared with healthy mice models. As histological staining, the three tested noninvasive imaging tools demonstrated the general tubular organization of the olfactory epithelium on healthy mice. Contrary to OCT, confocal microscopy, and endomicroscopy allowed visualizing the inner structure of olfactory epithelium as well as its morphological or functional changes on pathological models, alterations classically observed with histological assessment. The results could lead to relevant development of imaging tools for noninvasive and early diagnosis of neurodegenerative diseases through the characterization of the olfactory epithelium.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.3389/fnana.2020.00034DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7371997PMC
July 2020

What Are the Minimal Detectable Changes in SDMT and Verbal Fluency Tests for Assessing Changes in Cognitive Performance in Persons with Multiple Sclerosis and Non-Multiple Sclerosis Controls?

Eur Neurol 2020 7;83(3):263-270. Epub 2020 Jul 7.

Integrative and Clinical Neurosciences EA481, Bourgogne Franche-Comte University, Besançon, France.

Introduction: Cognitive impairment is frequent in persons with multiple sclerosis (PwMS) and can impact on activities of daily living. The capacity to differentiate real changes from background statistical noise induced by human, instrumentational, and environmental variations inherent to the evaluation would improve cognitive assessments.

Objective: To assess the short-term reproducibility of cognitive tests in non-multiple sclerosis (non-MS) persons and PwMS.

Methods: Sixty-two PwMS and 19 non-MS persons performed 2 measurements, 1 week apart, of the Symbol Digit Modalities Test (SDMT) and phonological and semantic verbal fluency. Test-retest reliability was evaluated by the intraclass correlation coefficients (ICC) and agreement by standard error of measurement (SEM) and minimum detectable change (MDC).

Results: The reliability of the cognitive variables studied had moderate to high ICC values (ICC > 0.8) in both populations. The threshold to consider a significant cognitive modification evaluated by SEM and MDC was lower in PwMS compared with non-MS persons.

Conclusions: SDMT and verbal fluency have good short-term reproducibility in PwMS. Specific SEM and MDC cutoffs based on the same design of evaluation (especially retest timing) and to the targeted pathological population (MS vs. healthy) should systematically be used to consider cognitive modification as significant in research protocol as well as in clinical practice.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1159/000508607DOI Listing
March 2021

What (more) can verbal fluency tell us about multiple sclerosis?

Ann Phys Rehabil Med 2021 Mar 17;64(2):101394. Epub 2020 Oct 17.

Clinical Functional Exploration Laboratory of the Movement, 25000 Besançon, France; Department of Physical Medicine and Rehabilitation, University Hospital Center of Besançon, 25000 Besançon, France; Integrative and Clinical Neurosciences EA481, Bourgogne Franche-Comte University, Besançon, France. Electronic address:

Background: Clinical symptoms of multiple sclerosis (MS) are variable and may include cognitive impairment, which can be assessed with the verbal fluency test (VFT). This test is evaluated by counting words spoken during a 2-min period, which is not a functional approach.

Objective: The objectives of this observational study were to: (1) determine new parameters that reflect communication and cognitive functions in persons with multiple sclerosis (PwMS) considering the evaluation of real-time word production in the VFT; (2) compare the results with those of a control group; and (3) evaluate the impact of including errors.

Methods: A phonological fluency test ("letter P") and a semantic fluency test ("animals") were used. The real-time word production was recorded. The main variables studied were the total number of words, first word delay, moment of inflection of the curve corresponding to the change in the cognitive process, speed of word production before inflection, and maximum delay between 2 consecutive words. These variables were studied by taking into account or not errors.

Results: We included 68 PwMS and 33 healthy controls. VFT results were impaired in PwMS. The total number of words, first word delay, speed before inflection, and maximum delay were relevant to the study of phonologic fluency. For studying semantic fluency, the total number of words, first word delay, speed before inflection, and inflection time of the curve seemed relevant. Taking into account errors was significant only for total number of words.

Conclusion: Taking into account errors in evaluating real-time word production in PwMS is of interest only for the total number of words performed but has no impact on the variables studied. These variables should be used to quantitatively evaluate verbal fluency with the objective of evaluating functionally relevant parameters (communication).
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.rehab.2020.05.002DOI Listing
March 2021

Cerebrospinal Fluid and Plasma Biomarkers do not Differ in the Presenile and Late-Onset Behavioral Variants of Frontotemporal Dementia.

J Alzheimers Dis 2020 ;74(3):903-911

Memory Research and Resources Alzheimer Center, Department of Neurology, University Hospital Center, Gui de Chauliac Hospital, Montpellier, France.

Background: Memory troubles and hippocampal atrophy are considered more frequent and focal atrophy less severe in late-onset (>65 years) than in presenile behavioral variant of frontotemporal dementia (bvFTD).

Objective: To compare cerebrospinal fluid (CSF) and plasma biomarkers in late-onset and presenile bvFTD.

Methods: Multicentric retrospective study (2007-2017) on patients with clinical diagnosis of bvFTD.

Results: This study included 44 patients (67%) with presenile and 22 (33%) with late-onset bvFTD (comparable mean disease duration; n = 11 with causal mutations). Hippocampal atrophy was more frequent (80% versus 25.8%) and severe in late-onset bvFTD (median Scheltens score: 3 [0-4] versus 1 [0-3]), without difference after adjustment for age. Lobar atrophy and focal hypometabolism/hypoperfusion were not different between groups. The median CSF Aβ1-42 and phosphorylated tau (P-tau) concentrations were in the normal range and comparable between groups. Axonal neurodegeneration biomarkers were within the normal range (CSF T-tau; plasma T-tau in late-onset bvFTD) or higher (plasma neurofilament light chain (NFL); plasma T-tau in presenile bvFTD) than the normal values, but globally not different between bvFTD groups. Plasma glial fibrillary acid protein (GFAP) was strongly increased in both bvFTD groups compared with the values in controls of the same age.

Conclusion: The CSF and plasma biomarker profiles did not suggest a more aggressive neurodegeneration in the presenile group (comparable T-tau, NFL, and GFAP levels) or the co-existence of Alzheimer's disease in the late-onset group (comparable and within normal range CSF Aβ1-42 and P-tau). The severity of the neurodegenerative process seems comparable in presenile and late-onset bvFTD.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.3233/JAD-190378DOI Listing
April 2021

Modification of both functional neurological symptoms and neuroimaging patterns with a good anatomoclinical concordance: a case report.

BMC Neurol 2019 Nov 4;19(1):270. Epub 2019 Nov 4.

Department of Neurology, University Hospital of Besançon, 3 bd alexandre fleming, 25030, Besançon, France.

Background: In the nineteenth century, Jean Martin Charcot explained functional neurological disorder (formerly called conversion disorder) as a "psychodynamic" lesion. Numerous advances in neuroimaging have permitted identification of the neural underpinnings of this disorder.

Case Presentation: Herein we describe a case of functional neurological disorder (FND) with initial left sensorimotor deficit, in-coordinated limb movements, neglect, clouded consciousness, slurred speech and a semiology of visual impairment. A single photon emission computed tomography (SPECT) showed a right thalamic hypoperfusion, which is rather concordant with the initial semiology. Later, the semiology changed, presenting with a predominantly neurovisual complex presentation. The second SPECT showed no more thalamic abnormalities but an hypoperfusion in the right temporo-occipital junction, right inferior parietal lobe and left superior frontal lobe, which is also rather concordant with the changing semiology.

Conclusions: This case illustrates the evolving neuroimaging patterns of FND but also the concordance between semiology and neuroimaging findings in FND supporting Charcot's theory of "dynamic lesion".
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12883-019-1475-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6830004PMC
November 2019

Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3.

Nat Commun 2019 10 29;10(1):4919. Epub 2019 Oct 29.

Department of Neurology-centre de référence des epilepsies rares, University Hospital of Strasbourg, 1 Avenue Molière, 67200, Strasbourg, France.

Familial Adult Myoclonic Epilepsy (FAME) is a genetically heterogeneous disorder characterized by cortical tremor and seizures. Intronic TTTTA/TTTCA repeat expansions in SAMD12 (FAME1) are the main cause of FAME in Asia. Using genome sequencing and repeat-primed PCR, we identify another site of this repeat expansion, in MARCH6 (FAME3) in four European families. Analysis of single DNA molecules with nanopore sequencing and molecular combing show that expansions range from 3.3 to 14 kb on average. However, we observe considerable variability in expansion length and structure, supporting the existence of multiple expansion configurations in blood cells and fibroblasts of the same individual. Moreover, the largest expansions are associated with micro-rearrangements occurring near the expansion in 20% of cells. This study provides further evidence that FAME is caused by intronic TTTTA/TTTCA expansions in distinct genes and reveals that expansions exhibit an unexpectedly high somatic instability that can ultimately result in genomic rearrangements.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41467-019-12763-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6820781PMC
October 2019

Causative Mutations and Genetic Risk Factors in Sporadic Early Onset Alzheimer's Disease Before 51 Years.

J Alzheimers Dis 2019 ;71(1):227-243

CMRR Department of Neurology, Toulouse University Hospital, Toulouse, France.

Background: Pathogenic variants in the autosomal dominant genes PSEN1, PSEN2, or APP, APOE4 alleles, and rare variants within TREM2, SORL1, and ABCA7 contribute to early-onset Alzheimer's disease (EOAD). However, sporadic EOAD patients have been insufficiently studied to define the probability of being a carrier of one of these variants.

Objective: To describe the proportion of each genetic variation among patients with very young-onset sporadic AD.

Methods: We first screened PSEN1, PSEN2, and APP in 154 EOAD patients with an onset before 51 years and a negative family history. Among 99 patients with no mutation (NMC), whole exome sequencing (WES) was performed. We analyzed the APOE genotype and rare protein-truncating or missense predicted damaging variants of TREM2, SORL1, and ABCA7. Neurological examination and cerebrospinal fluid (CSF) biomarkers were systematically retrieved.

Results: Nineteen (12.3%) mutation carriers (MC) harbored an APP or PSEN1 pathogenic or likely pathogenic variant. Among the NMC, 54/99 carried at least one genetic risk factor, including 9 APOE4/E4 homozygous, 37 APOE4 heterozygous, and 14 with a rare variant in another risk factor gene: 3 SORL1, 4 TREM2, and 9 ABCA7. MC presented an earlier disease onset (p < 0.0001) and associated neurologic symptoms more frequently (p < 0.002). All but one patient had at least 2 CSF biomarkers in abnormal ranges.

Conclusion: The genetic component of very early sporadic EOAD gathers a substantial proportion of pathogenic variants in autosomal dominant genes and an even higher proportion of patients carrying genetic risk factors, suggesting an oligogenic determinism, even at this range of ages.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.3233/JAD-190193DOI Listing
October 2020

Historical Pathway from Description of Cognitive Recovery to Formal Neuropsychological Rehabilitation.

Front Neurol Neurosci 2019 30;44:179-191. Epub 2019 Apr 30.

Department of Neurology, University Hospital of Besançon, Besançon, France.

Neuropsychological rehabilitation is one of the subspecialties of neuropsychology, along with neuropsychological assessment, cognitive process descriptions, and anatomo-functional correlation, but it is still frequently underrecognized, even from a historical point of view. In this chronological review, we propose following some of the historical descriptions of cognitive recovery, and the suggested procedures and therapies to improve this recovery from mythological periods and the antiquity to recent contemporary periods and the birth of formal neuropsychological rehabilitation in neurological and psychiatric conditions.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1159/000494962DOI Listing
August 2019

What is the clinical impact of cerebrospinal fluid biomarkers on final diagnosis and management in patients with mild cognitive impairment in clinical practice? Results from a nation-wide prospective survey in France.

BMJ Open 2019 05 30;9(5):e026380. Epub 2019 May 30.

Université de Paris, UMRS-1144, Inserm, F-75010 Paris, France.

Objectives: New diagnostic criteria for Alzheimer's disease (AD) include cerebrospinal fluid (CSF) biomarkers that allow diagnosis at the stage of mild cognitive impairment (MCI). However, the impact of CSF biomarkers in MCI populations in clinical practice has been poorly evaluated. The objective of this study is to assess the use and impact in clinical practice of AD CSF biomarkers in French memory clinics.

Design: We performed a nation-wide, prospective survey between March 2012 and September 2014. Data over the same period was extracted from the French National Database (Banque Nationale Alzheimer, BNA) and compared with the results of the survey.

Setting: 29 secondary and tertiary memory clinics in France.

Participants: Clinicians prescribing lumbar puncture (LP) in order to measure AD CSF biomarkers. Clinicians completed a two-part questionnaire for each of their patients undergoing LP.

Primary And Secondary Outcome Measures: Assessment of diagnosis, level of confidence before and after CSF biomarkers and impact on management in patients who underwent LP for CSF AD biomarkers in clinical routine.

Results: 977 questionnaires were completed, of which 61 were excluded because of unknown initial/final diagnosis or non-contributory CSF results. Of 916 patients reported, 153 (16.7%) had MCI as the initial diagnosis, of which 51 (33.3%) displayed an AD profile. CSF biomarkers resulted in a change in diagnosis in 44 patients (28.8%). Confidence level significantly increased after LP (8.3±1.4vs 6.73±1.18, p<0.0001), and CSF results modified management in 71/156 patients (46.4%), including 36 (23.5%) enrolled in clinical trials. Comparison of change in diagnosis with the BNA population revealed no difference (32.24%, p=0.4).

Conclusion: This nation-wide survey, reflecting clinical practice in French memory clinics, describes the impact of CSF AD biomarkers in patients with MCI in clinical practice.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1136/bmjopen-2018-026380DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6549619PMC
May 2019

Prevalence of amyloid-β pathology in distinct variants of primary progressive aphasia.

Ann Neurol 2018 11;84(5):729-740

University of Toulouse, INSERM, Toulouse Neuroimaging Center, Toulouse, France.

Objective: To estimate the prevalence of amyloid positivity, defined by positron emission tomography (PET)/cerebrospinal fluid (CSF) biomarkers and/or neuropathological examination, in primary progressive aphasia (PPA) variants.

Methods: We conducted a meta-analysis with individual participant data from 1,251 patients diagnosed with PPA (including logopenic [lvPPA, n = 443], nonfluent [nfvPPA, n = 333], semantic [svPPA, n = 401], and mixed/unclassifiable [n = 74] variants of PPA) from 36 centers, with a measure of amyloid-β pathology (CSF [n = 600], PET [n = 366], and/or autopsy [n = 378]) available. The estimated prevalence of amyloid positivity according to PPA variant, age, and apolipoprotein E (ApoE) ε4 status was determined using generalized estimating equation models.

Results: Amyloid-β positivity was more prevalent in lvPPA (86%) than in nfvPPA (20%) or svPPA (16%; p < 0.001). Prevalence of amyloid-β positivity increased with age in nfvPPA (from 10% at age 50 years to 27% at age 80 years, p < 0.01) and svPPA (from 6% at age 50 years to 32% at age 80 years, p < 0.001), but not in lvPPA (p = 0.94). Across PPA variants, ApoE ε4 carriers were more often amyloid-β positive (58.0%) than noncarriers (35.0%, p < 0.001). Autopsy data revealed Alzheimer disease pathology as the most common pathologic diagnosis in lvPPA (76%), frontotemporal lobar degeneration-TDP-43 in svPPA (80%), and frontotemporal lobar degeneration-TDP-43/tau in nfvPPA (64%).

Interpretation: This study shows that the current PPA classification system helps to predict underlying pathology across different cohorts and clinical settings, and suggests that age and ApoE genotype should be considered when interpreting amyloid-β biomarkers in PPA patients. Ann Neurol 2018;84:737-748.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1002/ana.25333DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6354051PMC
November 2018

Evidence for a neural signature of musical preference during silence.

Int J Psychophysiol 2018 03 20;125:50-56. Epub 2018 Feb 20.

Centre d'investigation Clinique-Innovation Technologique CIC-IT 1431, Inserm, CHRU Besançon, F-25000 Besançon, France; Neurosciences intégratives et cliniques EA 481, Univ. Franche-Comté, Univ. Bourgogne Franche-Comté, F-25000 Besançon, France. Electronic address:

One of the most basic and person-specific affective responses to music is liking. The present investigation sought to determine whether liking was preserved during spontaneous auditory imagery. To this purpose, we inserted two-second silent intervals into liked and disliked songs, a method known to automatically recreate a mental image of these songs. Neural correlates of musical preference were measured by high-density electroencephalography in twenty subjects who had to listen to a set of five pre-selected unknown songs the same number of times for two weeks. Time frequency analysis of the two most liked and the two most disliked songs confirmed the presence of neural responses related to liking. At the beginning of silent intervals (400-900 ms and 1000-1300 ms), significant differences in theta activity were originating from the inferior frontal and superior temporal gyrus. These two brain structures are known to work together to process various aspects of music and are also activated when measuring liking while listening to music. At the end of silent intervals (1400-1900 ms), significant alpha activity differences originating from the insula were observed, whose exact role remains to be explored. Although exposure was controlled for liked and disliked songs, liked songs were rated as more familiar, underlying the strong relationship that exists between liking, exposure, and familiarity.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ijpsycho.2018.02.007DOI Listing
March 2018

Cerebrospinal fluid Alzheimer biomarkers can be useful for discriminating dementia with Lewy bodies from Alzheimer's disease at the prodromal stage.

J Neurol Neurosurg Psychiatry 2018 05 10;89(5):467-475. Epub 2018 Jan 10.

Neuropsychology Unit, Neurology Service, and CNRS, ICube Laboratory UMR 7357 and FMTS, Team IMIS/Neurocrypto, University Hospital of Strasbourg, CMRR (Memory Resources and Research Centre), Geriatrics Day Hospital, Geriatrics Service, Strasbourg, France.

Background: Differential diagnosis between dementia with Lewy bodies (DLB) and Alzheimer's disease (AD) is not straightforward, especially in the early stages of disease. We compared AD biomarkers (phospho-Tau, total-Tau, Aβ42 and Aβ40) in cerebrospinal fluid (CSF) of patients with DLB and AD, focusing especially on the prodromal stage.

Methods: A total of 1221 CSF were collected in different memory centres (ePLM network) in France and analysed retrospectively. Samples were obtained from patients with prodromal DLB (pro-DLB; n=57), DLB dementia (DLB-d; n=154), prodromal AD (pro-AD; n=132) and AD dementia (n=783), and control subjects (CS; n=95). These centres use the same diagnostic procedure and criteria to evaluate the patients.

Results: In patients with pro-DLB, CSF Aβ42 levels appeared much less disrupted than in patients at the demented stage (DLB-d) (P<0.05 CS>pro-DLB; P<0.001 CS>DLB-d). On average, Aβ40 levels in patients with DLB (pro-DLB and DLB-d) were much below those in patients with pro-AD (P<0.001 DLB groups
Conclusions: Reduced levels of CSF Aβ42 were found in patients with DLB but rather at a later stage, reaching those of patients with AD, in whom Aβ42 levels were decreased even at the prodromal stage. At the prodromal stage of DLB, the majority of patients presented a normal CSF profile. CSF t-Tau and phospho-Tau were the best biomarkers to discriminate between AD and DLB, whatever the stage of disease.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1136/jnnp-2017-316385DOI Listing
May 2018

Relevance of Follow-Up in Patients with Core Clinical Criteria for Alzheimer Disease and Normal CSF Biomarkers.

Curr Alzheimer Res 2018 ;15(7):691-700

University Lille, Inserm U1171, Centre Memoire de Ressources et de Recherche & CNR-MAJ, CHU Lille, F-59000 Lille, France.

Background: Few patients with a normal cerebrospinal fluid (CSF) biomarker profile fulfill the clinical criteria for Alzheimer disease (AD).

Objective: The aim of this study was to test the hypothesis of misdiagnoses for these patients.

Method: Patients from the e-PLM centers fulfilling the core clinical criteria for probable AD dementia or mild cognitive impairment due to AD (AD-MCI), with normal CSF Aβ1-42, T-tau and P-tau biomarkers and clinical follow-up, were included. Clinical and imaging data were reviewed by an independent board, from baseline (visit with clinical evaluation and CSF analysis) to the end of the follow-up, for a final diagnosis.

Results: In the e-PLM cohort of 1098 AD patients with CSF analysis, 37 (3.3%) patients (20 with AD dementia core clinical criteria and 17 with AD-MCI core clinical criteria) had normal CSF biomarker profile and a clinical follow-up. All patients presented with episodic memory impairment and 27 (73%) had medial temporal lobe atrophy on MRI-scan. After a median follow-up of 36 months (range 7-74), the final diagnosis was AD MCI or dementia for 9 (24%) patients, and unlikely due to AD for 28 (76%) patients. A misdiagnosis was corrected in 18 (49%) patients (mood disorders, non-AD degenerative dementia, vascular cognitive impairment, alcohol cognitive disorders, temporal epilepsy and hippocampal sclerosis), and 10 (27%) patients had cognitive disorders of undetermined etiology.

Conclusion: AD diagnosis (MCI or dementia) with normal CSF biomarkers is a rare condition. A clinical follow- up is particularly recommended to consider an alternative diagnosis.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.2174/1567205015666180110113238DOI Listing
May 2019

Pali and Echo Phenomena: Symptoms of Persistence and Perseveration.

Front Neurol Neurosci 2018 16;41:28-39. Epub 2017 Nov 16.

Some neurological or psychiatric positive, productive symptoms are an abnormal persistence of a sensorial feeling or abnormal repetition of a motor, behavioral or cognitive process corresponding to a perseverative symptom. Palinopsia, palinacousis, and related sensorial symptoms have been described. Verbal and motor symptoms include echolalia, palilalia, echopraxia, and motor perseveration. Cognitive disorders induce perseverative behavior, perseverative thinking, including palipsychism, flashbulb memories, and reduplicative paramnesia (also known as "palimnesia") and many related perseverative symptoms. We propose a review of physiological phenomena and pathological symptoms involving these perseverative or repetitive characteristics and discuss the potential mechanisms and neural network involved in this productive semiology.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1159/000475692DOI Listing
July 2018

Multiple Sclerosis and Clinical Gait Analysis before and after Fampridine: A Systematic Review.

Eur Neurol 2017 9;78(5-6):272-286. Epub 2017 Oct 9.

Laboratory of Clinical Functional Exploration of Movement, University Hospital of Besançon, Besançon, France.

Background: Gait impairment is one of the most disabling symptoms in people with multiple sclerosis (PwMS). Fampridine, has demonstrated a positive effect on gait speed in PwMS after 14 days of treatment but the long-term effects have not yet been demonstrated. This study reviews the long-term effects of fampridine on gait in PwMS.

Summary: This systematic review was conducted according to the PRISMA statement. Studies were considered long term if treatment exceeded 28 days. From the 498 studies identified, 18 (2,200 patients) fulfilled all eligibility criteria. Only 3 studies followed-up patients for >1 year and one of these showed a non-significant improvement in the gait speed. Key Messages: Fampridine seems to be beneficial at improving gait speed in PwMS in the long term. Further long-term studies are needed on related gait and functional parameters.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1159/000480729DOI Listing
December 2018

Effects of a Training Program Involving Body Cooling on Physical and Cognitive Capacities and Quality of Life in Multiple Sclerosis Patients: A Pilot Study.

Eur Neurol 2017 12;78(1-2):71-77. Epub 2017 Jul 12.

Laboratory Culture Sport, Health, Society, University of Franche-Comté, Besançon, France.

Objective: Two methods using exercise and body cooling could influence the well-being of patients with multiple sclerosis (PwMS). The aim of this study was to determine whether wearing a cooling vest during a physical training program could increase the cognitive and physical capacities and quality of life in PwMS.

Methods: Eighteen PwMS (49.6 ± 8 years; Expanded Disability Status Score 5.0 ± 1.0) were randomly assigned to a cooling or control group. PwMS underwent a 7-week physical training program. In the cooling group, PwMS wore a cooling vest during each training session, whereas in the control group, PwMS wore a cotton T-shirt. Before and after the training program, both groups completed the Isaacs Set Test (IST), Trail Making Test A-B (TMT A-B), SEP-59, Multidimensional Fatigue Inventory and performed a 6-minute walk test (6MWT).

Results: The cooling group showed significantly (p < 0.05) improved performance for IST, TMT A and 6MWT. Their emotional well-being and cognitive functions investigated in SEP-59 were significantly (p < 0.05) improved, and general and physical fatigue significantly (p < 0.05) decreased.

Conclusions: This physical training program combined with a cooling strategy could have a significant positive influence on both cognitive and physical performances, perceived fatigue and emotional well-being in heat-sensitive PwMS.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1159/000477580DOI Listing
April 2018

Long-term cognitive outcome of Alzheimer's disease and dementia with Lewy bodies: dual disease is worse.

Alzheimers Res Ther 2017 Jun 27;9(1):47. Epub 2017 Jun 27.

University of Strasbourg, Laboratory of Biostatistics and French National Centre for Scientific Research (CNRS), ICube Laboratory, Team Modèles, Images et Vision (MIV), Strasbourg, France.

Background: Longitudinal studies of dementia with Lewy bodies (DLB) are rare. Clinically, DLB is usually considered to worsen into Alzheimer's disease (AD). The aim of our study was to compare the rate of the cognitive decline in DLB, AD, and the association of the two diseases (AD + DLB).

Methods: Using the Regional Network for Diagnostic Aid and Management of Patients with Cognitive Impairment database, which includes all the patients seen at all memory clinics (medical consultation and day hospitals) in four French regions, and beta regression, we compared the longitudinal the Mini-Mental State Examination scores of 1159 patients with AD (n = 1000), DLB (n = 131) and AD + DLB (association of the two) (n = 28) during follow-up of at least 4 years.

Results: The mean follow-up of the patients was 5.88 years. Using beta regression without propensity scores, the comparison of the decline of patients with AD and patients with DLB did not show a significant difference, but the decline of patients with AD + DLB was worse than that of either patients with DLB (P = 0.006) or patients with AD (P < 0.001). Using beta regression weighted by a propensity score, comparison of patients with AD and patients with DLB showed a faster decline for patients with DLB (P < 0.001). The comparison of the decline of patients with AD + DLB with that of patients with DLB (P < 0.001) and patients with AD (P < 0.001) showed that the decline was clearly worse in the patients with dual disease.

Conclusions: Whatever the analysis, the rate of decline is faster in patients with AD + DLB dual disease. The identification of such patients is important to enable clinicians to optimise treatment and care and to better inform and help patients and caregivers.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13195-017-0272-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5488368PMC
June 2017

Saccadic Eye Movements and Attentional Control in Alzheimer's Disease.

Arch Clin Neuropsychol 2018 Feb;33(1):1-13

CMRR Franche Comté, University Hospital Center, Besançon, France.

Objective: Several studies have demonstrated saccadic eye movement (SEM) abnormalities in Alzheimer's disease (AD) when patients performed prosaccade (PS) and antisaccade (AS) tasks. Some studies have also showed that SEM abnormalities were correlated with dementia rating tests such as the Mini Mental State Evaluation (MMSE). Therefore, it has been suggested that SEMs could provide useful information for diagnosis. However, little is known about predictive saccades (PreS)-saccades triggered before or very quickly after stimuli appearance-and their relationships with cognition in AD. Here, we aimed to examine the relationships between our usual dementia screening tests and SEM parameters in PS, AS, and also PreS task.

Method: We compared SEMs in 20 patients suffering from AD and in 35 healthy older adults (OA) in PS, AS, and PreS task. All participants also completed a neuropsychological evaluation.

Results: We showed that AD patients had higher latency and latency variability regardless the tasks, and also higher AS cost, in comparison with OA. Moreover, AD patients made more uncorrected AS and took more time-to-correct incorrect AS. In PreS task, AD patients showed higher gain and gain variability than OA when they made anticipated saccades. Close relationships were found between the majority of SEM variables in PS, AS, and PreS tasks and dementia screening tests, especially the MMSE and episodic memory measures.

Conclusion: Our findings, in agreement with previous studies, demonstrated that AD affects several SEM parameters. SEM abnormalities may reflect selective and executive-attention impairments in AD.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1093/arclin/acx044DOI Listing
February 2018

Consensus classification of posterior cortical atrophy.

Alzheimers Dement 2017 Aug 2;13(8):870-884. Epub 2017 Mar 2.

Dementia Research Centre, UCL Institute of Neurology, London, UK.

Introduction: A classification framework for posterior cortical atrophy (PCA) is proposed to improve the uniformity of definition of the syndrome in a variety of research settings.

Methods: Consensus statements about PCA were developed through a detailed literature review, the formation of an international multidisciplinary working party which convened on four occasions, and a Web-based quantitative survey regarding symptom frequency and the conceptualization of PCA.

Results: A three-level classification framework for PCA is described comprising both syndrome- and disease-level descriptions. Classification level 1 (PCA) defines the core clinical, cognitive, and neuroimaging features and exclusion criteria of the clinico-radiological syndrome. Classification level 2 (PCA-pure, PCA-plus) establishes whether, in addition to the core PCA syndrome, the core features of any other neurodegenerative syndromes are present. Classification level 3 (PCA attributable to AD [PCA-AD], Lewy body disease [PCA-LBD], corticobasal degeneration [PCA-CBD], prion disease [PCA-prion]) provides a more formal determination of the underlying cause of the PCA syndrome, based on available pathophysiological biomarker evidence. The issue of additional syndrome-level descriptors is discussed in relation to the challenges of defining stages of syndrome severity and characterizing phenotypic heterogeneity within the PCA spectrum.

Discussion: There was strong agreement regarding the definition of the core clinico-radiological syndrome, meaning that the current consensus statement should be regarded as a refinement, development, and extension of previous single-center PCA criteria rather than any wholesale alteration or redescription of the syndrome. The framework and terminology may facilitate the interpretation of research data across studies, be applicable across a broad range of research scenarios (e.g., behavioral interventions, pharmacological trials), and provide a foundation for future collaborative work.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jalz.2017.01.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5788455PMC
August 2017

Mystery Case: CSF-1R mutation is a cause of intracranial cerebral calcifications, cysts, and leukoencephalopathy.

Neurology 2016 11;87(22):e262-e263

From the Department of Neurology (X.A., C.C.-D., P.L.), CHU Montpellier; Department of Biochemistry (K.M, S.L.), CHU Nimes; and Department of Neurology (E.M, E.B), CHU Besançon, France.

View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000003370DOI Listing
November 2016
-->