Publications by authors named "Maria Gabriella Vita"

24 Publications

  • Page 1 of 1

Neuroacanthocytosis Syndromes in an Italian Cohort: Clinical Spectrum, High Genetic Variability and Muscle Involvement.

Genes (Basel) 2021 Feb 26;12(3). Epub 2021 Feb 26.

Department of Advanced Medical and Surgical Sciences, 2nd Division of Neurology, Center for Rare Diseases and Interuniversity Center for Research in Neurosciences, University of Campania "Luigi Vanvitelli", 80131 Naples, Italy.

Neuroacanthocytosis (NA) syndromes are a group of genetically defined diseases characterized by the association of red blood cell acanthocytosis, progressive degeneration of the basal ganglia and neuromuscular features with characteristic persistent hyperCKemia. The main NA syndromes include autosomal recessive chorea-acanthocytosis (ChAc) and X-linked McLeod syndrome (MLS). A series of Italian patients selected through a multicenter study for these specific neurological phenotypes underwent DNA sequencing of the and genes to search for causative mutations. Where it has been possible, muscle biopsies were obtained and thoroughly investigated with histochemical assays. A total of nine patients from five different families were diagnosed with ChAC and had mostly biallelic changes in the gene (three nonsense, two frameshift, three splicing), while three patients from a single X-linked family were diagnosed with McLeod syndrome and had a deletion in the gene. Despite a very low incidence (only one thousand cases of ChAc and a few hundred MLS cases reported worldwide), none of the 8 variants identified in our patients is shared by two families, suggesting the high genetic variability of ChAc in the Italian population. In our series, in line with epidemiological data, McLeod syndrome occurs less frequently than ChAc, although it can be easily suspected because of its X-linked mode of inheritance. Finally, histochemical studies strongly suggest that muscle pathology is not simply secondary to the axonal neuropathy, frequently seen in these patients, but primary myopathic alterations can be detected in both NA syndromes.
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http://dx.doi.org/10.3390/genes12030344DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7996727PMC
February 2021

Subclinical epileptiform activity during sleep in Alzheimer's disease and mild cognitive impairment.

Clin Neurophysiol 2020 05 5;131(5):1011-1018. Epub 2020 Mar 5.

Area of Neuroscience, IRCCS San Raffaele-Pisana, Rome, Italy.

Objective: Recent findings suggested that subclinical epileptiform activity is prevalent during sleep in a significant proportion of Alzheimer's Disease (AD) patients.

The Aims Of Our Study Were: (A) comparing the frequency of subclinical epileptiform activity during the sleep in a sample diagnosed with 'probable' AD and Mild Cognitive Impairment (MCI) due to AD, and in healthy subjects; (B) evaluating epileptiform EEG activity as a function of different sleep stages within a well-controlled polysomnographic setting.

Methods: We prospectively enrolled 50 'probable' AD patients (73 ± 7.0 years) and 50 subjects with MCI due to AD (72 ± 6.7 years) without history of seizures, comparing them with 50 controls (69 ± 6.7 years). Patients underwent to a full-night video-PSG.

Results: Subclinical epileptiform activity was detected in 6.38% of 'probable' AD patients, 11.63% of MCI due to AD subjects and 4.54% of controls (p = 0.43). The comparisons between the three groups for the frequency of epileptiform activity did not reach statistically significant differences neither for total sleep nor for any sleep period considered.

Conclusions: Our study shows that, when controlling for sleep stages and the influence of psychoactive drugs, AD patients and MCI due to AD subjects do not exhibit a higher frequency of epileptiform discharges during sleep compared to healthy subjects.

Significance: Subclinical epileptiform activity during sleep does not discriminate 'probable' AD from MCI due to AD and healthy controls.
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http://dx.doi.org/10.1016/j.clinph.2020.02.015DOI Listing
May 2020

Acromegaly can be cured by first-line pasireotide treatment?

Endocrine 2019 04 23;64(1):196-199. Epub 2019 Feb 23.

Pituitary Unit, Fondazione Policlinico Universitario Agostino Gemelli, Università Cattolica del Sacro Cuore, Rome, Italy.

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http://dx.doi.org/10.1007/s12020-019-01874-4DOI Listing
April 2019

Predicting progression of amnesic MCI: The integration of episodic memory impairment with perfusion SPECT.

Psychiatry Res Neuroimaging 2018 01 24;271:43-49. Epub 2017 Oct 24.

Institute of Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.

The present study aimed at assessing if the ability to predict progression from amnesic Mild Cognitive Impairment (aMCI) to dementia is improved by considering the presence at the baseline of Single Photon Emission Computed Tomography (SPECT) perfusion abnormalities in addition to a defect of long term memory. The Episodic Memory Score (EMS), a global index which integrates results obtained in subtests of the Rey's Verbal Learning Test and the Rey-Osterrieth Figure recall, were taken into account to evaluate defects of long term memory. The study sample consisted of 42 subjects affected by aMCI, who were followed-up during a two-year period. At the final follow-up 15 subjects progressed to AD. The EMS predicted progression from aMCI to dementia with a high level of sensitivity and a lower level of specificity, but the association of neuropsychological (EMS) and SPECT data (hypoperfusion in the Posterior Cingulate Cortex) increased the accuracy in predicting conversion from aMCI to AD. The association of results obtained by aMCI patients on memory tests and perfusion SPECT may improve the accuracy in detecting subjects who will progress to dementia. The use of currently available and low-cost investigations could be advantageous in terms of public health policies.
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http://dx.doi.org/10.1016/j.pscychresns.2017.10.008DOI Listing
January 2018

Levodopa-Carbidopa Intestinal Gel in a Pediatric Parkinsonism-plus Syndrome.

Mov Disord Clin Pract 2017 Sep-Oct;4(5):791-792. Epub 2017 Jun 29.

Istituto di Neurologia Università Cattolica del Sacro Cuore Fondazione Policlinico Universitario Agostino Gemelli Rome Italy.

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http://dx.doi.org/10.1002/mdc3.12509DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6353485PMC
June 2017

Neuroradiology of human prion diseases, diagnosis and differential diagnosis.

Radiol Med 2017 May 21;122(5):369-385. Epub 2017 Jan 21.

Department of Radiological Sciences, Institute of Radiology, Fondazione Policlinico Universitario A. Gemelli, School of Medicine, Catholic University, Largo A. Gemelli, 8, 00168, Rome, Italy.

Human transmissible spongiform encephalopathies (TSEs), or prion diseases, are invariably fatal conditions associated with a range of clinical presentations. TSEs are classified as sporadic [e.g. sporadic Creutzfeldt-Jakob disease (sCJD), which is the most frequent form], genetic (e.g. Gerstmann-Straussler-Scheinker disease, fatal familial insomnia, and inherited CJD), and acquired or infectious (e.g. Kuru, iatrogenic CJD, and variant CJD). In the past, brain imaging played a supporting role in the diagnosis of TSEs, whereas nowadays magnetic resonance imaging (MRI) plays such a prominent role that MRI findings have been included in the diagnostic criteria for sCJD. Currently, MRI is required for all patients with a clinical suspicion of TSEs. Thus, MRI semeiotics of TSEs should become part of the cultural baggage of any radiologist. The purposes of this update on the neuroradiology of CJD are to (i) review the pathophysiology and clinical presentation of TSEs, (ii) describe both typical and atypical MRI findings of CJD, and (iii) illustrate diseases mimicking CJD, underlining the MRI key findings useful in the differential diagnosis.
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http://dx.doi.org/10.1007/s11547-017-0725-yDOI Listing
May 2017

Patient with rapidly evolving neurological disease with neuropathological lesions of Creutzfeldt-Jakob disease, Lewy body dementia, chronic subcortical vascular encephalopathy and meningothelial meningioma.

Neuropathology 2017 Apr 16;37(2):110-115. Epub 2016 Sep 16.

Dipartimento di Biologia Cellulare e Neuroscienze, Istituto Superiore di Sanità, Rome, Italy.

We report a case of rapidly evolving neurological disease in a patient with neuropathological lesions of Creutzfeldt-Jakob disease (CJD), Lewy body dementia (LBD), chronic subcortical vascular encephalopathy and meningothelial meningioma. The coexistence of severe multiple pathologies in a single patient strengthens the need to perform accurate clinical differential diagnoses in rapidly progressive dementias.
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http://dx.doi.org/10.1111/neup.12343DOI Listing
April 2017

Are Raw Scores on Memory Tests Better than Age- and Education- Adjusted Scores for Predicting Progression from Amnesic Mild Cognitive Impairment to Alzheimer Disease ?

Curr Alzheimer Res 2016 ;13(12):1414-1420

Center for Neuropsychological Research, Institute of Neurology of the Policlinico Gemelli, Catholic University of Rome, Italy.

In this prospective longitudinal study, conducted in a large sample of amnestic MCI patients over a three-year period, we investigated the recently advanced proposal that unadjusted test scores obtained at baseline on long-term memory tests are more reliable than age- and education-corrected scores in predicting progression from aMCI to AD. Our experimental sample consisted of 270 aMCI patients who underwent extensive neurological and neuropsychological examinations both at baseline and at the follow-up, conducted at least 3 years later. At the follow-up 80 patients had converted to overt dementia. The predictive capacity of raw, age-corrected, education-corrected and fully corrected scores on RAVLT immediate and delayed recall was compared by examining the area under the ROC curves (AUCs) of all of these scores to assess which (raw or corrected) scores achieves the better reliability in predicting conversion to dementia. The condition (aMCI stable vs converted) was analyzed to assess the odds ratios resulting from a logistic regression on the corrected and uncorrected scores of RAVLT immediate and delayed recall. Even if both in immediate and in delayed recall the ROCs of 'raw scores' were generally higher than the other ROCs on corrected scores, these differences did not reach the level of statistical significance, failing to support the claim that unadjusted test scores are superior to age- and education-corrected scores in predicting progression from aMCI to AD.
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http://dx.doi.org/10.2174/1567205013666160314145522DOI Listing
October 2017

Clinical reversible myelopathy in T-cell lymphoblastic lymphoma treated with nelarabine and radiotherapy: report of a case and review of literature of an increasing complication.

Mediterr J Hematol Infect Dis 2015 1;7(1):e2015025. Epub 2015 Mar 1.

Institute of Hematology, Catholic University S. Cuore, Rome.

Eleven cases of neurological defects in T-ALL patients treated with nelarabine have been described in the last 4 years, seven of these after stem cell transplantation (SCT) for T Lymphoblastic Lymphoma (T-LBL). Most of these patients had an unfavorable outcome or irreversible neurological damage. We now report the case of a 41-year-old woman suffering from T-LBL who presented with severe, but reversible myelopathy after receiving nelarabine-based treatment and mediastinal radiotherapy, and we provide a review of the literature on the topic.
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http://dx.doi.org/10.4084/MJHID.2015.025DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4344177PMC
March 2015

Cognitive and behavioral determinants of psychotic symptoms in Alzheimer's disease.

Dement Geriatr Cogn Disord 2015 7;39(3-4):194-206. Epub 2015 Jan 7.

Research Center for Neuropsychology, Institute of Neurology, Catholic University, Rome, Italy.

Aims: To investigate the relationship between psychotic symptoms and cognitive impairment in Alzheimer's disease (AD).

Methods: A total of 108 subjects affected by AD were subdivided into subjects without delusions (ND), subjects with paranoid delusions (PD), subjects with delusional misidentifications (DM), subjects with both DM and PD (DM+PD), subjects with visual hallucinations (v-HALL), and subjects without visual hallucinations (N-HALL).

Results: PD and ND subjects performed similarly on neuropsychological tests, while DM patients performed significantly worse than PD and ND patients. v-HALL patients performed worse than N-HALL patients on memory, visuospatial, and executive functions. As for behavioral features, DM and v-HALL subjects reported higher scores on the abnormal motor behavior subscale of the neuropsychiatric inventory (NPI); PD subjects reported higher scores on the disinhibition subscale of the NPI. The severity of PD was predicted by the severity of disinhibition (B = 0.514; p = 0.016) but not by neuropsychological performances. The severity of DM was predicted by age (B = 0.099; p = 0.048) and MMSE (B = -0.233; p = 0.001). The severity of v-HALL was predicted by age (B = 0.052; p = 0.037) and scores on an immediate visual memory task (B = -0.135; p = 0.007).

Conclusions: The occurrence of PD may require the relative sparing of cognitive functions and be favored by frontal lobe dysfunction, while DM is associated with the overall level of cognitive impairment. Finally, v-HALL are associated with the impairment of visuospatial abilities.
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http://dx.doi.org/10.1159/000369161DOI Listing
August 2015

Typicality of words produced on a semantic fluency task in amnesic mild cognitive impairment: linguistic analysis and risk of conversion to dementia.

J Alzheimers Dis 2014 ;42(4):1171-8

Institute of Neurology, Catholic University of the Sacred Heart, Rome, Italy Research Center for Neuropsychology, Catholic University of the Sacred Heart, Rome, Italy.

Semantic and, to a lesser extent, phonological verbal fluency tasks are impaired in Alzheimer's disease (AD) and in amnesic mild cognitive impairment (aMCI). Furthermore, both fluency tasks have been considered as possible markers of conversion from aMCI to AD. Up to recent years, the use of fluency tasks has been limited to word count, but, more recently, linguistic variables, such as word frequency, age of acquisition, familiarity, and typicality, have also been considered. In particular, attention has been focused on typicality of words produced on semantic verbal fluency tasks, because the tendency to produce only the more typical members of various categories points to an impoverishment of semantic memory. The aim of our study was to compare in aMCI, AD, and control subjects a lexical (word frequency) and a lexical-semantic variable (item typicality) in a semantic verbal fluency task, and to evaluate the possible value of these variables in predicting conversion from aMCI to AD during a 2 years follow-up period. We found no difference in mean typicality of words produced by aMCI and AD subjects whereas both groups produced words of higher mean typicality than control subjects. Furthermore, to assess the relationship between typicality values and risk of conversion to AD, the aMCI group was split in two subgroups, including subjects who obtained a mean typicality value lower or higher than the median value of the whole aMCI group. Consistent with our hypothesis, conversion to AD was significantly more frequent in high typicality than in low typicality subjects.
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http://dx.doi.org/10.3233/JAD-140570DOI Listing
July 2015

Does semantic memory impairment in amnestic MCI with hippocampal atrophy conform to a distinctive pattern of progression?

Curr Alzheimer Res 2014 May;11(4):399-407

Research Center for Neuropsychology, Institute of Neurology, Catholic University of The Sacred Heart, 00168 Roma -Italy.

Subjects with Mild Cognitive Impairment (MCI) are normally classified according to the presence of episodic memory deficits associated or not to disturbances of other cognitive domains. The present study had two aims: to identify discrete subtypes of amnestic MCI (a-MCI) with hippocampal atrophy; and to assess if the identified subtypes show different rates of progression to dementia. Sixty-seven a-MCI subjects were enrolled, all showing significant hippocampal atrophy on MRI. The subjects underwent at baseline and at follow-up a comprehensive neuropsychological examination, and were followed-up for five years to detect the conversion to dementia. An exploratory factor analysis on neuropsychological performances at baseline identified three main factors that were subsequently used to perform a k-means cluster analysis. Three cluster of a-MCI subjects were identified: "pure amnestic" (N=29), "multiple domain"(N=16), and "amnestic/semantic"(N=22). The successive discriminant functions were able to correctly classify 88% of the subjects. During the follow-up, 33 subjects converted to dementia (49.2%), 14 "pure amnestic" (48.3%), 11 "multiple domain" (68.5%) and 8 "amnestic/semantic" (36.4%; log-rank: p=0.016); median survival was respectively 36, 22, and 39 months. On Cox proportional hazard model, baseline MMSE (HR=0,709; p=0.006), education (HR=1,115; p=0.011) and belonging to the "multiple domain" subgroup (HR=2,706; p=0.013) were significantly associated to higher rate of conversion to dementia. Our findings confirm the tendency to worst outcome of subjects with multiple domain MCI, and show that the association of episodic and semantic memory deficits, without other cognitive disturbances, could identify a specific cognitive pattern associated to slower cognitive decline, as previously reported in Alzheimer's Disease.
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http://dx.doi.org/10.2174/1567205011666140317104051DOI Listing
May 2014

Human brain networks in cognitive decline: a graph theoretical analysis of cortical connectivity from EEG data.

J Alzheimers Dis 2014 ;41(1):113-27

Brain Connectivity Laboratory, IRCCS San Raffaele Pisana, Rome, Italy Institute of Neurology, Catholic University, Rome, Italy.

The aim of this study was to investigate the neuronal network characteristics in physiological and pathological brain aging. A database of 378 participants divided in three groups was analyzed: Alzheimer's disease (AD), mild cognitive impairment (MCI), and normal elderly (Nold) subjects. Through EEG recordings, cortical sources were evaluated by sLORETA software, while graph theory parameters (Characteristic Path Length λ, Clustering coefficient γ, and small-world network σ) were computed to the undirected and weighted networks, obtained by the lagged linear coherence evaluated by eLORETA software. EEG cortical sources from spectral analysis showed significant differences in delta, theta, and alpha 1 bands. Furthermore, the analysis of eLORETA cortical connectivity suggested that for the normalized Characteristic Path Length (λ) the pattern differences between normal cognition and dementia were observed in the theta band (MCI subjects are find similar to healthy subjects), while for the normalized Clustering coefficient (γ) a significant increment was found for AD group in delta, theta, and alpha 1 bands; finally, the small world (σ) parameter presented a significant interaction between AD and MCI groups showing a theta increase in MCI. The fact that AD patients respect the MCI subjects were significantly impaired in theta but not in alpha bands connectivity are in line with the hypothesis of an intermediate status of MCI between normal condition and overt dementia.
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http://dx.doi.org/10.3233/JAD-132087DOI Listing
January 2015

Neuropsychological predictors of conversion from mild cognitive impairment to Alzheimer's disease.

J Alzheimers Dis 2014 ;38(3):481-95

Center for Neuropsychological Research, Institute of Neurology of the Policlinico Gemelli, Catholic University of Rome, Rome, Italy IRCCS Fondazione Santa Lucia, Department of Clinical and Behavioral Neurology, Rome, Italy.

The construct of mild cognitive impairment (MCI) has been proposed to identify patients at risk of developing Alzheimer's disease (AD) in the pre-clinical stage. Although subjects with MCI have an increased risk of progressing to dementia, most remain stable or return to normality. The new criteria for diagnosing prodromal AD assume that, to increase the predictive value of the MCI, in addition to a defect of delayed recall there must also be the presence of abnormal biomarkers, investigating structural and molecular neuroimaging and cerebrospinal fluid (CSF) analysis of amyloid-β or tau proteins. Although acknowledging that the use of CSF degeneration biomarkers is advisable not only for research, but also for clinical purposes, the present review is centered upon the neuropsychological markers of conversion to AD, which are equally clinically important. In particular, results of this review suggest the following: (a) measures of delayed recall are the best neuropsychological predictors of conversion from MCI to AD; (b) memory tests providing controlled encoding and cued recall are not necessarily better predictors than free recall tests; (c) stringent cut-off points are necessary to increase the specificity of these predictors; (d) multi-domain amnestic MCI patients are the best candidates for clinical trials, but not for treatment with disease-modifying drugs; and (e) not only episodic but also semantic memory is significantly impaired in patients who will convert to AD. These data and the underlying neural mechanisms will be discussed, trying to distinguish results obtained in MCI patients from those obtained in a pre-MCI stage of the AD progression.
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http://dx.doi.org/10.3233/JAD-130881DOI Listing
July 2014

R208H-129VV haplotype in the prion protein gene: phenotype and neuroimaging of a patient with genetic Creutzfeldt-Jakob disease.

J Neurol 2013 Oct 25;260(10):2650-2. Epub 2013 Aug 25.

Dipartimento di Gerontologia, Neuroscienze ed Ortopedia, Istituto di Neurologia, Università Cattolica del Sacro Cuore, Policlinico A.Gemelli, Largo A. Gemelli 8, 00168, Rome, Italy.

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http://dx.doi.org/10.1007/s00415-013-7078-9DOI Listing
October 2013

Cerebellar degeneration associated with mGluR1 autoantibodies as a paraneoplastic manifestation of prostate adenocarcinoma.

J Neuroimmunol 2013 Oct 3;263(1-2):155-8. Epub 2013 Aug 3.

Institute of Neurology, Department of Neuroscience, Catholic University, Rome, Italy. Electronic address:

Subacute cerebellar degeneration associated with metabotropic glutamate receptor type 1 (mGluR1) autoantibodies is an uncommon syndrome known to be part of the spectrum of paraneoplastic cerebellar degenerations associated with neuronal autoantibodies. We describe a patient with prostate adenocarcinoma who developed a subacute cerebellar ataxia. Autoantibodies specific to mGluR1 were detected in patient's serum and cerebrospinal fluid (CSF). Immunohistochemistry analyses of patient's prostate adenocarcinoma revealed abundant mGluR1 expression in luminal acinar epithelial cells and binding of patient's IgGs to tumoral mGluR1. These findings suggest that cerebellar degeneration associated with mGluR1 antibodies can be a paraneoplastic accompaniment of prostate adenocarcinoma.
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http://dx.doi.org/10.1016/j.jneuroim.2013.07.015DOI Listing
October 2013

Selective impairment of living things and musical instruments on a verbal 'Semantic Knowledge Questionnaire' in a case of apperceptive visual agnosia.

Brain Cogn 2012 Oct 7;80(1):155-9. Epub 2012 Jul 7.

Institutes of Neurology, Università Cattolica del Sacro Cuore, Policlinico A. Gemelli, 00168 Rome, Italy.

Semantic memory was investigated in a patient (MR) affected by a severe apperceptive visual agnosia, due to an ischemic cerebral lesion, bilaterally affecting the infero-mesial parts of the temporo-occipital cortices. The study was made by means of a Semantic Knowledge Questionnaire (Laiacona, Barbarotto, Trivelli, & Capitani, 1993), which takes separately into account four categories of living beings (animals, fruits, vegetables and body parts) and of artefacts (furniture, tools, vehicles and musical instruments), does not require a visual analysis and allows to distinguish errors concerning super-ordinate categorization, perceptual features and functional/encyclopedic knowledge. When the total number of errors obtained on all the categories of living and non-living beings was considered, a non-significant trend toward a higher number of errors in living stimuli was observed. This difference, however, became significant when body parts and musical instruments were excluded from the analysis. Furthermore, the number of errors obtained on the musical instruments was similar to that obtained on the living categories of animals, fruits and vegetables and significantly higher of that obtained in the other artefact categories. This difference was still significant when familiarity, frequency of use and prototypicality of each stimulus entered into a logistic regression analysis. On the other hand, a separate analysis of errors obtained on questions exploring super-ordinate categorization, perceptual features and functional/encyclopedic attributes showed that the differences between living and non-living stimuli and between musical instruments and other artefact categories were mainly due to errors obtained on questions exploring perceptual features. All these data are at variance with the 'domains of knowledge' hypothesis', which assumes that the breakdown of different categories of living and non-living things respects the distinction between biological entities and artefacts and support the models assuming that 'category-specific semantic disorders' are the by-product of the differential weighting that visual-perceptual and functional (or action-related) attributes have in the construction of different biological and artefacts categories.
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http://dx.doi.org/10.1016/j.bandc.2012.06.002DOI Listing
October 2012

Selective impairment of action-verb naming and comprehension in progressive supranuclear palsy.

Cortex 2013 Apr 16;49(4):948-60. Epub 2012 Apr 16.

Institute of Neurology, Catholic University, Rome, Italy.

Some previous studies in brain-damaged patients suggested that neural systems in the left temporal lobe might be crucial in the production and comprehension of nouns, while analogous systems in posterior frontal cortical areas might be involved in the production and comprehension of verbs. We assessed performance on neuropsychological tasks of production and comprehension of nouns and action-verbs in 10 patients with progressive supranuclear palsy (PSP) and in 10 age-matched healthy controls. PSP patients also underwent measurements of regional cerebral blood flow by means of single photon emission computed tomography (SPECT), using 99mTc-Ethyl Cysteinate Dimer. In all PSP patients, SPECT showed a significant hypoperfusion in the inferior frontal gyrus (IFG). PSP patients performed significantly worse than controls on all lexical-semantic tasks, except for the auditory lexical decision task on nouns. Within PSP patients, however, a significantly lower performance was observed on action-verbs as compared to nouns on various lexical-semantic tasks (oral and written confrontation naming, auditory and visual single-word comprehension). Analysis of individual performance revealed heterogeneous patterns of neuropsychological impairment in different PSP patients. Despite some difficulty in drawing clear-cut conclusions about the locus of functional damage, we hypothesise that in most of our PSP patients such selective impairment in the production and in the comprehension of action-verbs could be due to semantic deficits affecting the conceptual category of actions. These findings are consistent with the hypothesis that in PSP a dysfunction of neural systems in posterior frontal cortical areas (mainly involving the IFG) critical for processing the conceptual category of actions might result in a selective impairment of production and comprehension of action-verbs.
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http://dx.doi.org/10.1016/j.cortex.2012.03.024DOI Listing
April 2013

Probable Alzheimer's disease patients presenting as "focal temporal lobe dysfunction" show a slow rate of cognitive decline.

J Int Neuropsychol Soc 2012 Jan 24;18(1):144-50. Epub 2011 Nov 24.

Department of Neuroscience-Center for Neuropsychological Research, Catholic University of Sacred Heart, Largo A. Gemelli, Rome, Italy.

Several authors have recently shown that anterograde amnesia is often associated with semantic memory impairment in amnesic MCI patients. Similarly, after the MCI condition, some patients who convert to Alzheimer's disease (AD) show the classic onset (cAD) characterized by the impairment of memory and executive functions, whereas other AD patients show isolated defects of episodic and semantic memory without deficits in other cognitive domains. The latter have been considered an AD variant characterized by 'focal Temporal Lobe Dysfunction' (TLD). The aim of the present study was to assess the differences in disease progression between cAD and TLD. For this purpose a continuous series of newly diagnosed probable AD patients presenting as cAD (n = 30) and TLD (n = 25), matched for severity, and 65 healthy controls underwent a comprehensive neuropsychological evaluation at baseline; TLD and cAD were re-evaluated at a 24-month follow-up. At follow-up, TLD patients showed no significant worsening of cognitive functions, whereas cAD subjects displayed a significant worsening in all explored cognitive domains. In conclusion, our results confirm that probable AD presenting as TLD represents a specific onset of AD characterized by a slower rate of progression.
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http://dx.doi.org/10.1017/S1355617711001287DOI Listing
January 2012

An atypical phenotype of CJD associated with the E200K mutation in the prion protein gene.

Neurol Sci 2010 Dec 21;31(6):837-9. Epub 2010 Aug 21.

Institute of Neurology, Catholic University of Sacred Heart, Rome, Italy.

E200K mutation of the prion protein gene (PRNP) presented with a variety of phenotypes. A 55-year-old woman complaining of slowly progressive walking difficulties came to our observation. She showed a severe progressive ataxo-spastic syndrome but a mild cognitive impairment only. Repeated EEGs showed a diffuse slowing of the rhythm without specificity. Brain MRI revealed by FLAIR showed widespread multiple hyperintensities in the whole cerebral cortex, caudate and putamen nuclei, and in the pulvinar and medial thalamus bilaterally. These signal abnormalities were best detected by DWI with restricted diffusion on ADC map. The clinical diagnosis of possible genetic Creutzfeldt-Jakob disease (CJD) has been confirmed by PRNP gene analysis which revealed the presence of a E200K mutation. This report confirms the heterogeneity of phenotypes in E200K mutated familial CJD with the occurrence of a new phenotype not previously described.
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http://dx.doi.org/10.1007/s10072-010-0388-0DOI Listing
December 2010

Patterns of cognitive decline and rates of conversion to dementia in patients with degenerative and vascular forms of MCI.

Curr Alzheimer Res 2011 Feb;8(1):24-31

Department of Neurology, Neuropsychology Research Centre, Catholic University of Sacred Heart, Rome, Italy.

According to recent criteria, Mild Cognitive Impairment (MCI) represents a clinical condition with multiple cognitive presentations (amnesic and non amnesic) that can be supported by different types of brain lesions (mainly vascular and atrophic). In order to asses if the cognitive presentation and the rate of progression differ according to the type of brain pathology, two populations of MCI patients, characterized by hippocampal atrophy (n: 39) and vascular subcortical pathology (n: 36) respectively, on the basis of MRI findings, were investigated. Patients underwent an extensive neuropsychological test battery twice (at baseline and at two years follow-up), which is made up of the MMSE and various tests of episodic memory, short-term memory, visual-spatial abilities, executive functions, language, attention, praxis and psychomotor speed. Atrophic and vascular MCI patients showed a remarkably different pattern of impairment at the baseline. The former were significantly more impaired in episodic memory tasks. The latter were more impaired in an action naming task. At the follow up examination, the rate of progression to dementia was higher in atrophic (14/39) than in vascular (5/36) MCI patients. The comparison between neuropsychological scores obtained at the baseline and at the follow-up showed that atrophic MCI patients underwent a severe decline in several cognitive domains, whereas vascular MCI patients showed a significant decline only in those tasks requiring executive abilities. Our results confirm that a selective and severe defect of episodic memory is associated with hippocampal atrophy and that MCI patients with atrophic lesions are more likely to convert to Alzheimer's type dementia while MCI patients with vascular lesions are characterized by a slight decline in executive function over time and by a tendency to develop probable vascular forms of dementia.
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http://dx.doi.org/10.2174/156720511794604552DOI Listing
February 2011

Psychotic symptoms in Alzheimer's disease and 5-HTTLPR polymorphism of the serotonin transporter gene: evidence for an association.

J Alzheimers Dis 2009 ;16(1):173-80

Institute of Neurology, Catholic University of Sacred Heart, Rome, Italy.

The occurrence of psychotic symptoms is common in Alzheimer's disease (AD), configuring a possibly distinguished clinical entity defined "Psychosis in Alzheimer's Disease" (AD-P). In order to investigate demographic clinical and biological variables potentially associated to the occurrence of AD-P, 148 AD patients were selected. Mini-Mental State Examination (MMSE), Activities of Daily Living (ADL), and Instrumental Activities of Daily Living (IADL) scores, socio-economic status and 5-HTTLPR and APOE gene polymorphisms were determined for each subject. AD-P patients were significantly more frequent carriers of the long (L) allele of 5-HTTLPR. The percentage of AD-P increased with the number of copies of the L-allele: 13% among S homozygote; 36% among heterozygotes; 51% among L-homozygotes. No difference resulted between AD-P and non-psychotic AD (AD-NP) in the distribution of the epsilon4 allele of APOE. The risk of AD-P was increased in L/L homozygous (OR = 7.25, p = 0.003) and, to a lesser extent, in heterozygous (OR = 3.91; p = 0.018). Backward logistic regression analysis showed that the risk for AD-P was increased in older subjects (OR = 1.07; p = 0.018) while an increase of MMSE score was protective (OR = 0.90; p = 0.004). The occurrence of AD-P resulted significantly related to age at examination, cognitive status, and to the presence of the 5-HTTLPR L-allele.
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http://dx.doi.org/10.3233/JAD-2009-0950DOI Listing
March 2009

Visual hallucinations and pontine demyelination in a child: possible REM dissociation?

J Clin Sleep Med 2008 Dec;4(6):588-90

Department of Neurosciences, Catholic University, Rome, Italy.

An 11 year-old-boy acutely developed complex visual and acoustic hallucinations. Hallucinations, consisting of visions of a threatening, evil character of the Harry Potter saga, persisted for 3 days. Neurological and psychiatric examinations were normal. Ictal EEG was negative. MRI documented 3 small areas of hyperintense signal in the brainstem, along the paramedian and lateral portions of pontine tegmentum, one of which showed post-contrast enhancement. These lesions were likely of inflammatory origin, and treatment with immunoglobulins was started. Polysomnography was normal, multiple sleep latency test showed a mean sleep latency of 8 minutes, with one sleep-onset REM period. The pontine tegmentum is responsible for REM sleep regulation, and contains definite "REM-on" and "REM-off" regions. The anatomical distribution of the lesions permits us to hypothesize that hallucinations in this boy were consequent to a transient impairment of REM sleep inhibitory mechanisms, with the appearance of dream-like hallucinations during wake.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2603538PMC
December 2008

Patterns of neuropsychological impairment in MCI patients with small subcortical infarcts or hippocampal atrophy.

J Int Neuropsychol Soc 2008 Jul;14(4):611-9

Neuropsychology Service of the UCSC/Policlinico Gemelli, Catholic University of Rome, Rome, Italy.

We investigated whether MCI patients with hippocampal atrophy or multiple subcortical infarcts demonstrate neuropsychological patterns and markers considered typical of Alzheimer's disease (AD) and of vascular dementia (VD), respectively. An extensive neuropsychological battery, including tests of memory, visual-spatial and executive functions, language, attention, praxis and psychomotor speed, was administered to 36 mild cognitive impairment (MCI) patients with hippocampal atrophy and 41 MCI patients with multiple subcortical infarcts. Both groups of MCI patients were very mildly impaired and well matched in terms of MMSE scores. A clear, disproportionately severe, episodic memory disorder was observed in MCI patients with hippocampal atrophy. A less specific neuropsychological profile, consisting of impairment on an Action Naming task that is sensitive to frontal lobe lesions, was observed in MCI patients with multiple subcortical infarcts. In MCI patients, a disproportionately severe episodic memory impairment strongly points to an Alzheimer's type brain pathology, whereas the prevalence of executive deficits and other frontal lobe symptoms are a much weaker diagnostic marker of small vessel subcortical disease.
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http://dx.doi.org/10.1017/S1355617708080831DOI Listing
July 2008