Publications by authors named "Caterina Tonon"

81 Publications

From Neurosurgical Planning to Histopathological Brain Tumor Characterization: Potentialities of Arcuate Fasciculus Along-Tract Diffusion Tensor Imaging Tractography Measures.

Front Neurol 2021 26;12:633209. Epub 2021 Feb 26.

Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.

Tractography has been widely adopted to improve brain gliomas' surgical planning and guide their resection. This study aimed to evaluate state-of-the-art of arcuate fasciculus (AF) tractography for surgical planning and explore the role of along-tract analyses for characterizing tumor histopathology. High angular resolution diffusion imaging (HARDI) images were acquired for nine patients with tumors located in or near language areas (age: 41 ± 14 years, mean ± standard deviation; five males) and 32 healthy volunteers (age: 39 ± 16 years; 16 males). Phonemic fluency task fMRI was acquired preoperatively for patients. AF tractography was performed using constrained spherical deconvolution diffusivity modeling and probabilistic fiber tracking. Along-tract analyses were performed, dividing the AF into 15 segments along the length of the tract defined using the Laplacian operator. For each AF segment, diffusion tensor imaging (DTI) measures were compared with those obtained in healthy controls (HCs). The hemispheric laterality index (LI) was calculated from language task fMRI activations in the frontal, parietal, and temporal lobe parcellations. Tumors were grouped into low/high grade (LG/HG). Four tumors were LG gliomas (one dysembryoplastic neuroepithelial tumor and three glioma grade II) and five HG gliomas (two grade III and three grade IV). For LG tumors, gross total removal was achieved in all but one case, for HG in two patients. Tractography identified the AF trajectory in all cases. Four along-tract DTI measures potentially discriminated LG and HG tumor patients (false discovery rate < 0.1): the number of abnormal MD and RD segments, median AD, and MD measures. Both a higher number of abnormal AF segments and a higher AD and MD measures were associated with HG tumor patients. Moreover, correlations (unadjusted < 0.05) were found between the parietal lobe LI and the DTI measures, which discriminated between LG and HG tumor patients. In particular, a more rightward parietal lobe activation (LI < 0) correlated with a higher number of abnormal MD segments ( = -0.732) and RD segments ( = -0.724). AF tractography allows to detect the course of the tract, favoring the safer-as-possible tumor resection. Our preliminary study shows that along-tract DTI metrics can provide useful information for differentiating LG and HG tumors during pre-surgical tumor characterization.
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http://dx.doi.org/10.3389/fneur.2021.633209DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7952864PMC
February 2021

Brain functional MRI responses to blue light stimulation in Leber's hereditary optic neuropathy.

Biochem Pharmacol 2021 Feb 27:114488. Epub 2021 Feb 27.

Unità di RM Funzionale, Dipartimento di Scienze Biomediche e Neuromotorie, Università di Bologna, Bologna, Italy; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma Neuroimmagini Funzionali e Molecolari, Bologna, Italy.

Melanopsin retinal ganglion cells (mRGCs) are intrinsically photosensitive photoreceptors contributing both to image and non-image-forming (NIF) functions of the eye. They convey light signal to the brain to modulate circadian entrainment, sleep, alertness, cognition, brightness perception and coarse vision. Given that rods and cones also contribute to all these impacts of light, isolating mRGC visual and NIF roles in humans is challenging so that mRGC functions remains to be fully characterized. Here, we evaluated light-driven visual and cognitive brain responses in Leber's Hereditary Optic Neuropathy (LHON), an inherited optic neuropathy that is characterized by a selective relative sparing of the melanopsin-expressing retinal ganglion cells (mRGCs). Twelve patients and twelve matched healthy controls (HC) were enrolled in a functional brain magnetic resonance imaging (fMRI) protocol including visual and visual-cognitive paradigms under blue (480 nm) and red (620 nm) light exposures. Primary visual cortex activation was detected in LHON patients; in particular higher occipital activation was found in response to sustained blue vs. red stimulation in LHON vs. HC. Similarly, brain responses to the executive task were larger under blue vs. red light in LHON over lateral prefrontal cortex. These findings are in line with the relative mRGC sparing demonstrated in LHON and support the mRGC contribution to both non-visual and visual brain functions, with potential implication for visual rehabilitation in hereditary optic neuropathy patients.
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http://dx.doi.org/10.1016/j.bcp.2021.114488DOI Listing
February 2021

Major cerebral vessels involvement in patients with MELAS syndrome: Worth a scan? A systematic review.

J Neuroradiol 2021 Feb 15. Epub 2021 Feb 15.

IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.

Major cerebral vessels have been proposed as a target of defective mitochondrial metabolism in patients with mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes syndrome (MELAS). Cerebral angiographic techniques are not routinely performed in MELAS patients. A systematic literature review was performed to identify studies describing major vessel caliber alterations in MELAS. Twenty-three studies reporting on 46 MELAS patients were included. Alterations in major caliber vessels were present in 59% (27/46) of patients. Dilation occurred in 37% (17/46) of patients, and in 88% (15/17) of them during a stroke-like episode (SLE). Stenosis was reported in 24% (11/46) of patients: 36% (4/11) related to an SLE and 64% (7/11) to dissections or degenerative changes. During an SLE, identification of intracranial vessels dilation or stenosis could be a selection tool for new treatment protocols. Outside SLE, identification of major cerebral vessels dissections and degenerative changes may help to prevent subsequent complications.
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http://dx.doi.org/10.1016/j.neurad.2021.02.002DOI Listing
February 2021

''Eye of tiger sign" mimic in patients with spastic paraplegia gene 7 (SPG7) mutations.

Parkinsonism Relat Disord 2020 12 2;81:158-160. Epub 2020 Nov 2.

Department of Biomedical and Neuromotor Sciences, University of Bologna, Italy; IRCCS Istituto Delle Scienze Neurologiche di Bologna, Italy.

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http://dx.doi.org/10.1016/j.parkreldis.2020.10.049DOI Listing
December 2020

Intravenous immunoglobulin therapy in COVID-19-related encephalopathy.

J Neurol 2020 Oct 8. Epub 2020 Oct 8.

Department of Biomedical and Neuromotor Sciences, University of Bologna, Bellaria Hospital, Via Altura 3 40139, Bologna, Italy.

Objective: To report on efficacy and safety of intravenous immunoglobulin (IVIg) therapy in a case series of patients with COVID-19-related encephalopathy.

Methods: We retrospectively collected data on all patients with COVID-19 hospitalized at two Italian hospitals who developed encephalopathy during disease course and were treated with IVIg.

Results: Five patients (two females, mean age 66.8 years) developed encephalopathy after a mean of 12.6 days, since the onset of respiratory/constitutional symptoms related to COVID-19. Four patients suffered severe respiratory distress, three of which required invasive mechanical ventilation. Neurological manifestations included impaired consciousness, agitation, delirium, pyramidal and extrapyramidal signs. EEG demonstrated diffuse slowing in all patients. Brain MRI showed non-specific findings. CSF analysis revealed normal cell count and protein levels. In all subjects, RT-PCR for SARS-CoV-2 in CSF tested negative. IVIg at 0.4 g/kg/die was commenced 29.8 days (mean, range: 19-55 days) after encephalopathy onset, leading to complete electroclinical recovery in all patients, with an initial improvement of neuropsychiatric symptoms observed in 3.4 days (mean, range: 1-10 days). No adverse events related to IVIg were observed.

Conclusions: Our preliminary findings suggest that IVIg may represent a safe and effective treatment for COVID-19-associated encephalopathy. Clinical efficacy may be driven by the anti-inflammatory action of IVIg, associated with its anti-cytokine qualities.
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http://dx.doi.org/10.1007/s00415-020-10248-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7543032PMC
October 2020

An Evolutionary Cancer Epigenetic Approach Revealed DNA Hypermethylation of Ultra-Conserved Non-Coding Elements in Squamous Cell Carcinoma of Different Mammalian Species.

Cells 2020 09 13;9(9). Epub 2020 Sep 13.

Functional MR Unit, Bellaria Hospital, Department of Biomedical and Neuromotor Sciences, University of Bologna, 40139 Bologna, Italy.

Background: Ultra-conserved non-coding elements (UCNEs) are genomic sequences that exhibit > 95% sequence identity between humans, mammals, birds, reptiles, and fish. Recent findings reported their functional role in cancer. The aim of this study was to evaluate the DNA methylation modifications of UNCEs in squamous cell carcinoma (SCC) from different mammal species.

Methods: Fifty SCCs from 26 humans, 17 cats, 3 dogs, 1 horse, 1 bovine, 1 badger, and 1 porcupine were investigated. Fourteen feline stomatitis and normal samples from 36 healthy human donors, 7 cats, 5 dogs, 5 horses, 2 bovines and 1 badger were collected as normal controls. Bisulfite next generation sequencing evaluated the DNA methylation level from seven UCNEs (uc.160, uc.283, uc.416, uc.339, uc.270, uc.299, and uc.328).

Results: 57/59 CpGs were significantly different according to the Kruskal-Wallis test ( < 0.05) comparing normal samples with SCC. A common DNA hypermethylation pattern was observed in SCCs from all the species evaluated in this study, with an increasing trend of hypermethylation starting from normal mucosa, through stomatitis to SCC.

Conclusions: Our findings indicate that UCNEs are hypermethylated in human SCC, and this behavior is also conserved among different species of mammals.
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http://dx.doi.org/10.3390/cells9092092DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7565279PMC
September 2020

Liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical long-term follow-up and pathogenic implications.

J Neurol 2020 Dec 18;267(12):3702-3710. Epub 2020 Jul 18.

IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Interaziendale Clinica Neurologica Rete Metropolitana (NeuroMet), Neurologia AOU S. Orsola-Malpighi, Policlinico Sant'Orsola-Malpighi, Building #2, Via Albertoni, 15, 40138, Bologna, Italy.

We report the longest follow-up of clinical and biochemical features of two previously reported adult mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) patients treated with liver transplantation (LT), adding information on a third, recently transplanted, patient. All three patients overcame the early post-operative period and tolerated immunosuppressive therapy. Plasma nucleoside levels dramatically decreased, with evidence of clinical improvement of ambulation and neuropathy. Conversely, other features of MNGIE, as gastrointestinal dysmotility, low weight, ophthalmoparesis, and leukoencephalopathy were essentially unchanged. A similar picture characterized two patients treated with allogenic hematopoietic stem cell transplantation (AHSCT). In conclusion, LT promptly and stably normalizes nucleoside imbalance in MNGIE, stabilizing or improving some clinical parameters with marginal periprocedural mortality rate as compared to AHSCT. Nevertheless, restoring thymidine phosphorylase (TP) activity, achieved by both LT and AHSCT, does not allow a full clinical recovery, probably due to consolidated cellular damage and/or incomplete enzymatic tissue replacement.
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http://dx.doi.org/10.1007/s00415-020-10051-xDOI Listing
December 2020

The Bologna motor and non-motor prospective study on parkinsonism at onset (BoProPark): study design and population.

Neurol Sci 2020 Sep 26;41(9):2531-2537. Epub 2020 Mar 26.

IRCCS Istituto delle Scienze Neurologiche di Bologna, Via Altura 3, 40139, Bologna, Italy.

Objective: The Bologna motor and non-motor prospective study on parkinsonism at onset (BoProPark) was designed to prospectively characterize motor and non-motor features in patients with a progressive neurodegenerative disease starting with parkinsonism since early disease stage and to investigate their diagnostic and prognostic role in the differential diagnosis of Parkinson's disease from atypical parkinsonisms. The aim of this paper is to describe the method and population of the BoProPark study.

Methods: Patients referred to our Department with parkinsonism within 3 years from motor onset were recruited. Secondary causes of parkinsonism were excluded. Each patient underwent a comprehensive evaluation of motor and non-motor symptoms, assessed by means of quantitative, objective instrumental tests in addition to scales and questionnaires. The evaluations were performed at enrolment (T0), after 16 months (T1) and after 5 years (T2). Diagnoses were made according to consensus criteria.

Results: We recruited 150 patients, with mean age 61.5 ± 9.8 years and mean disease duration 20 ± 9 months. H&Y stage was 1 in 47.3% and 2 in 46.7% of cases. Mean UPDRS-III was 17.7 ± 9.2. Fifty-four patients were on dopaminergic treatment with median levodopa equivalent daily dose (LEDD) of 200 mg.

Conclusions: We expect that the prospective nature of the BoProPark study as well as the comprehensive, instrumental evaluation of motor and non-motor symptoms in patients with parkinsonism will provide important new insights for both clinical practice and research. Our data could be used for comparison with other cohorts and shared with national and international collaborators to develop new innovative projects.
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http://dx.doi.org/10.1007/s10072-020-04305-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7419369PMC
September 2020

Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome.

Sci Rep 2020 03 16;10(1):4785. Epub 2020 Mar 16.

IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Clinica Neurologica, Bologna, Italy.

Wolfram syndrome (WS) is a recessive multisystem disorder defined by the association of diabetes mellitus and optic atrophy, reminiscent of mitochondrial diseases. The role played by mitochondria remains elusive, with contradictory results on the occurrence of mitochondrial dysfunction. We evaluated 13 recessive WS patients by deep clinical phenotyping, including optical coherence tomography (OCT), serum lactic acid at rest and after standardized exercise, brain Magnetic Resonance Imaging, and brain and muscle Magnetic Resonance Spectroscopy (MRS). Finally, we investigated mitochondrial bioenergetics, network morphology, and calcium handling in patient-derived fibroblasts. Our results do not support a primary mitochondrial dysfunction in WS patients, as suggested by MRS studies, OCT pattern of retinal nerve fiber layer loss, and, in fibroblasts, by mitochondrial bioenergetics and network morphology results. However, we clearly found calcium mishandling between endoplasmic reticulum (ER) and mitochondria, which, under specific metabolic conditions of increased energy requirements and in selected tissue or cell types, may turn into a secondary mitochondrial dysfunction. Critically, we showed that Wolframin (WFS1) protein is enriched at mitochondrial-associated ER membranes and that in patient-derived fibroblasts WFS1 protein is completely absent. These findings support a loss-of-function pathogenic mechanism for missense mutations in WFS1, ultimately leading to defective calcium influx within mitochondria.
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http://dx.doi.org/10.1038/s41598-020-61735-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7075867PMC
March 2020

Color Choice Preference in Cognitively Impaired Patients: A Look Inside Alzheimer's Disease Through the Use of Lüscher Color Diagnostic.

Front Psychol 2019 27;10:1951. Epub 2019 Aug 27.

IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.

Objective: To study the emotional state of cognitively impaired patients through the color choice preference in a group of Alzheimer's disease (AD) patients and compare it with a group of Mild Cognitive Impairment (MCI) patients and a matched control group.

Methods: A total of 71 AD, 50 MCI and 68 controls were consecutively evaluated. All patients and controls underwent the Mini Mental State Evaluation (MMSE) and the Lüscher color test.

Results: Cognitively impaired patients mainly chose auxiliary colors, in particular violet and brown, and rejected black and gray. AD patients predominantly chose forms corresponding to auxiliary colors. The auxiliary color choice negatively correlated with the MMSE score. MCI patients and controls had a higher presence of anxiety on gray table and controls had higher frustration and ambivalence, i.e., psychic complexity, on basic color tables.Data globally suggest that AD patients live with a feeling of personal change due to instability and emotional insecurity, experiencing physical discomfort and a bodily need of being welcomed in a favorable environment. They aspire to a sensitive understanding by someone with whom they can be identified. Differently, MCI patients have less of these needs; however, they feel more anxious.

Conclusion: The comprehension of the inner emotional state of cognitively impaired patients allows us to better communicate with them and effectively approach their behavioral disorders. Like other projective techniques, such as the tree-drawing test and the human figure-drawing test, Lüscher color test is proposed as a simple and unconventional approach to understand the emotional life of AD patients. The awareness of clinicians about the existential fragility and insecurity of such type of patients allows us not only to better manage their behavioral disturbances but also to improve their quality of life and that of their caregivers.
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http://dx.doi.org/10.3389/fpsyg.2019.01951DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6718708PMC
August 2019

L-Dopa Modulation of Brain Connectivity in Parkinson's Disease Patients: A Pilot EEG-fMRI Study.

Front Neurosci 2019 14;13:611. Epub 2019 Jun 14.

Department of Biomedical and NeuroMotor Sciences, University of Bologna, Bologna, Italy.

Studies of functional neurosurgery and electroencephalography in Parkinson's disease have demonstrated abnormally synchronous activity between basal ganglia and motor cortex. Functional neuroimaging studies investigated brain dysfunction during motor task or resting state and primarily have shown altered patterns of activation and connectivity for motor areas. L-dopa administration relatively normalized these functional alterations. The aim of this pilot study was to examine the effects of L-dopa administration on functional connectivity in early-stage PD, as revealed by simultaneous recording of functional magnetic resonance imaging (fMRI) and electroencephalographic (EEG) data. Six patients with diagnosis of probable PD underwent EEG-fMRI acquisitions (1.5 T MR scanner and 64-channel cap) before and immediately after the intake of L-dopa. Regions of interest in the primary motor and sensorimotor regions were used for resting state fMRI analysis. From the EEG data, weighted partial directed coherence was computed in the inverse space after the removal of gradient and cardioballistic artifacts. fMRI results showed that the intake of L-dopa increased functional connectivity within the sensorimotor network, and between motor areas and both attention and default mode networks. EEG connectivity among regions of the motor network did not change significantly, while regions of the default mode network showed a strong tendency to increase their outflow toward the rest of the brain. This pilot study provided a first insight into the potentiality of simultaneous EEG-fMRI acquisitions in PD patients, showing for both techniques the analogous direction of increased connectivity after L-dopa intake, mainly involving motor, dorsal attention and default mode networks.
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http://dx.doi.org/10.3389/fnins.2019.00611DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6587436PMC
June 2019

Predicting conversion from mild cognitive impairment to Alzheimer's disease using brain H-MRS and volumetric changes: A two- year retrospective follow-up study.

Neuroimage Clin 2019 30;23:101843. Epub 2019 Apr 30.

IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Clinica Neurologica, Bologna, Italy; Department of Biomedical and NeuroMotor Sciences, University of Bologna, Bologna, Italy.

This study investigated the ability of magnetic resonance spectroscopy (H-MRS) of posterior cingulate cortex (PCC) and brain volumetry to predict the progression from mild cognitive impairment (MCI) to Alzheimer's Disease (AD) on the basis of clinical classification at 2 years follow-up. Thirty-eight MCI patients, eighteen healthy older adults and twenty-three AD patients were included in this study. All participants underwent a brain-MR protocol (1.5 T GE scanner) including high-resolution T1-weighted volumetric sequence (isotropic 1mm). Voxel-wise differences in brain volumetry were evaluated using FreeSurfer software and all volumes were normalized by the total intracranial volume (TIV). Careful localization of H-MRS volume of PCC was performed and data were processed with the LCModel program. MCI patients underwent a complete neuropsychological assessment at baseline and were clinically re-evaluated after a mean of 28 months; twenty-six MCI patients (68.4%) converted to AD and twelve remained stable. At baseline these two MCI subgroups did not differ in the global cognitive level (Mini Mental State Examination, MMSE) or in any of the other cognitive domains; the NAA/ mI ratio in the PCC was able to differentiate MCI converters from those MCI that did not develop AD (p = 0.022) with a level of accuracy (AUC area) of 0.779. A significantly reduced volume of parahippocampal gyrus (p = 0.010) and fusiform gyrus (p = 0.026) were found in the converter MCI subgroup compared to the stable MCI subgroup. The combined use of both N- acetyl-aspartate (NAA)/myo-Inositol (mI) ratio and volume of parahippocampal gyrus, increases the overall accuracy (AUC = 0.910) in predicting the conversion to AD two years before the development of clinical symptoms. Additional longitudinal studies with a broader representative sample of MCI patients and longer follow-up might be helpful to confirm these results and to elucidate the role of each parameter in predicting the possible progression to AD, and also to all the other non-AD dementia subtypes.
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http://dx.doi.org/10.1016/j.nicl.2019.101843DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6506639PMC
March 2020

Effects of Light Treatment on Sleep, Cognition, Mood, and Behavior in Alzheimer's Disease: A Systematic Review.

Dement Geriatr Cogn Disord 2018 11;46(5-6):371-384. Epub 2018 Dec 11.

Department of Biomedical and NeuroMotor Sciences, Functional MR Unit, University of Bologna, Bologna, Italy,

Background: Bright light treatment is a therapeutic intervention mainly used to treat sleep and circadian disturbances in Alzheimer's disease (AD) patients. Recently, a handful of studies also focused on the effect on cognition and behavior. Conflicting findings are reported in the literature, and no definite conclusions have been drawn about its specific therapeutic effect.

Summary: The aim of this review is to provide a critical evaluation of available evidence in this field, highlighting the specific characteristics of effective bright light treatment. Eligible studies were required to assess at least one of the following outcome measures: sleep, cognition, mood, and/or behavior (e.g., depression, agitation). A total of 32 articles were included in this systematic review and identified as research intervention studies about light treatment in AD. The quality of the papers was evaluated based on the US Preventive Service Task Force guidelines. Key Messages: Overall, the current literature suggests that the effects of light treatment in AD patients are mixed and may be influenced by several factors, but with a general trend toward a positive effect. Bright light seems to be a promising intervention treatment without significant adverse effects; therefore, further well-designed randomized controlled trials are needed taking into account the highlighted recommendations.
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http://dx.doi.org/10.1159/000494921DOI Listing
May 2019

Stridor-related gray matter alterations in multiple system atrophy: A pilot study.

Parkinsonism Relat Disord 2019 05 17;62:226-230. Epub 2018 Nov 17.

Department of Biomedical and NeuroMotor Sciences, University of Bologna, Bologna, Italy; IRCCS Istituto delle Scienze Neurologiche di Bologna, Clinica Neurologica, Bologna, Italy.

Introduction: The neuroanatomical substrate of stridor associated with Multiple System Atrophy (MSA) remains unclear. We evaluated stridor-related gray matter (GM) changes in MSA.

Methods: 36 MSA patients underwent standardized nocturnal video-polysomnography and brain MRI. Differences in GM density between MSA patients with and without stridor and a sample of 22 matched healthy controls were evaluated with Voxel Based Morphometry protocol supplemented by a specific tool (SUIT) for analysing infratentorial structures.

Results: Stridor was confirmed in 14 patients (10 MSA-cerebellar variant; 10 M; mean ± SD age = 61.6 ± 8.9years; disease duration = 5.2 ± 2.9years) and absent in 22 (11 MSA-cerebellar variant; 18 M; age = 61.4 ± 9.9years; disease duration = 4.8 ± 3.4years). Compared to MSA without stridor, patients with stridor showed higher GM density in the cerebellum (p < 0.05, corrected for the MSA-cerebellar variant and uncorrected when considering both MSA-variants) and lower in the striatum (p < 0.05, uncorrected).

Conclusions: This preliminary study has demonstrated for the first time in MSA stridor-related GM changes in striatal and cerebellar regions. Abnormalities in these regions were previously reported in dystonic disorders affecting laryngeal muscles, suggesting the hypothesis that stridor pathophysiology is dystonia-related. These results need however to be confirmed in a larger sample of patients.
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http://dx.doi.org/10.1016/j.parkreldis.2018.11.018DOI Listing
May 2019

Along-tract analysis of the arcuate fasciculus using the Laplacian operator to evaluate different tractography methods.

Magn Reson Imaging 2018 12 27;54:183-193. Epub 2018 Aug 27.

Department of Biomedical and NeuroMotor Sciences, Functional MR Unit, University of Bologna, Bologna, Italia; IRCCS Istituto delle Scienze Neurologiche di Bologna, Diagnostica Funzionale Neuroradiologica, Bologna, Italia.

Purpose: We propose a new along-tract algorithm to compare different tractography algorithms in tract curvature mapping and along-tract analysis of the arcuate fasciculus (AF). In particular, we quantified along-tract diffusion parameters and AF spatial distribution evaluating hemispheric asymmetries in a group of healthy subjects.

Methods: The AF was bilaterally reconstructed in a group of 29 healthy subjects using the probabilistic ball-and-sticks model, and both deterministic and probabilistic constrained spherical deconvolution. We chose cortical ROIs as tractography targets and the developed along-tract algorithm used the Laplacian operator to parameterize the volume of the tract, allowing along-tract analysis and tract curvature mapping independent of the tractography algorithm used.

Results: The Laplacian parameterization successfully described the tract geometry underlying hemispheric asymmetries in the AF curvature. Using the probabilistic tractography methods, we found more tracts branching towards cortical terminations in the left hemisphere. This influenced the left AF curvature and its diffusion parameters, which were significantly different with respect to the right. In particular, we detected projections towards the middle temporal and inferior frontal gyri bilaterally, and towards the superior temporal and precentral gyri in the left hemisphere, with a significantly increased volume and connectivity.

Conclusions: The approach we propose is useful to evaluate brain asymmetries, assessing the volume, the diffusion properties and the quantitative spatial localization of the AF.
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http://dx.doi.org/10.1016/j.mri.2018.08.013DOI Listing
December 2018

Cognitive Rehabilitation and Transcranial Direct Current Stimulation in a Patient with Posterior Cortical Atrophy: An fMRI Study.

Am J Case Rep 2018 Jun 21;19:729-733. Epub 2018 Jun 21.

Department of Biomedical and NeuroMotor Sciences, University of Bologna, Bologna, Italy.

BACKGROUND Posterior cortical atrophy (PCA) is a neurodegenerative syndrome that accounts for 5% of the atypical presentation of Alzheimer disease (AD). To date, only a few studies have explored the effect of non-pharmacological treatment in PCA patients and no studies have evaluated the efficacy of transcranial direct current stimulation (tDCS) in this disorder. CASE REPORT A 58-year-old PCA patient underwent a cognitive rehabilitation treatment followed by 2 cycles of tDCS stimulation. The effects of both treatments were monitored over time with a standardized task-based fMRI protocol and with a neuropsychological assessment. Improvements in cognitive abilities, increased fMRI activation in the dorsolateral prefrontal cortex, and deactivation of the default mode network during the Stroop test performance were detected after each session treatment. CONCLUSIONS This combined approach lead to both cognitive improvements and neurophysiological adaptive changes, however, further studies on a larger cohort are needed to confirm these preliminary results.
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http://dx.doi.org/10.12659/AJCR.909167DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6042471PMC
June 2018

Brain functional connectivity in sleep-related hypermotor epilepsy.

Neuroimage Clin 2018 6;17:873-881. Epub 2017 Dec 6.

Functional MR Unit, Policlinico S.Orsola - Malpighi, via Massarenti 9, 40138, Bologna, Italy; Department of Biomedical and NeuroMotor Sciences, University of Bologna, via U. Foscolo 7, 40123, Bologna, Italy. Electronic address:

Objectives: To evaluate functional connectivity (FC) in patients with sleep-related hypermotor epilepsy (SHE) compared to healthy controls.

Methods: Resting state fMRI was performed in 13 patients with a clinical diagnosis of SHE (age = 38.3 ± 11.8 years, 6 M) and 13 matched healthy controls (age = 38.5 ± 10.8 years, 6 M).Data were first analysed using probabilistic independent component analysis (ICA), then a graph theoretical approach was applied to assess topological and organizational properties at the whole brain level. We evaluated node degree (ND), betweenness centrality (BC), clustering coefficient (CC), local efficiency (LE) and global efficiency (GE). The differences between the two groups were evaluated non-parametrically.

Results: At the group level, we distinguished 16 RSNs (Resting State Networks). Patients showed a significantly higher FC in sensorimotor and thalamic regions ( < 0.05 corrected). Compared to controls, SHE patients showed no significant differences in network global efficiency, while ND and BC were higher in regions of the limbic system and lower in the occipital cortex, while CC and LE were higher in regions of basal ganglia and lower in limbic areas ( < 0.05 uncorrected).

Discussion And Conclusions: The higher FC of the sensorimotor cortex and thalamus might be in agreement with the hypothesis of a peculiar excitability of the motor cortex during thalamic K-complexes. This sensorimotor-thalamic hyperconnection might be regarded as a consequence of an alteration of the arousal regulatory system in SHE. An altered topology has been found in structures like basal ganglia and limbic system, hypothesized to be involved in the pathophysiology of the disease as suggested by the dystonic-dyskinetic features and primitive behaviours observed during the seizures.
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http://dx.doi.org/10.1016/j.nicl.2017.12.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5842749PMC
January 2019

Mitochondrial dysfunction in myotonic dystrophy type 1.

Neuromuscul Disord 2018 02 14;28(2):144-149. Epub 2017 Nov 14.

Functional MR Unit, Policlinico S. Orsola-Malpighi, via Massarenti 9, 40138, Bologna, Italy; Department of Biomedical and Neuromotor Sciences, University of Bologna, via Ugo Foscolo 7, 40123, Bologna, Italy.

The pathophysiological mechanism linking the nucleotide expansion in the DMPK gene to the clinical manifestations of myotonic dystrophy type 1 (DM1) is still unclear. In vitro studies demonstrate DMPK involvement in the redox homeostasis of cells and the mitochondrial dysfunction in DM1, but in vivo investigations of oxidative metabolism in skeletal muscle have provided ambiguous results and have never been performed in the brain. Twenty-five DM1 patients (14M, 39 ± 11years) underwent brain proton MR spectroscopy (H-MRS), and sixteen cases (9M, 40 ± 13 years old) also calf muscle phosphorus MRS (P-MRS). Findings were compared to those of sex- and age-matched controls. Eight DM1 patients showed pathological increase of brain lactate and, compared to those without, had larger lateral ventricles (p < 0.01), smaller gray matter volumes (p < 0.05) and higher white matter lesion load (p < 0.05). A reduction of phosphocreatine/inorganic phosphate (p < 0.001) at rest and, at first minute of exercise, a lower [phosphocreatine] (p = 0.003) and greater [ADP] (p = 0.004) were found in DM1 patients compared to controls. The post-exercise indices of muscle oxidative metabolism were all impaired in DM1, including the increase of time constant of phosphocreatine resynthesis (TC PCr, p = 0.038) and the reduction of the maximum rate of mitochondrial ATP synthesis (p = 0.033). TC PCr values correlated with the myotonic area score (ρ = 0.74, p = 0.01) indicating higher impairment of muscle oxidative metabolism in clinically more affected patients. Our findings provide clear in vivo evidence of multisystem impairment of oxidative metabolism in DM1 patients, providing a rationale for targeted treatment enhancing energy metabolism.
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http://dx.doi.org/10.1016/j.nmd.2017.10.007DOI Listing
February 2018

Multi-class parkinsonian disorders classification with quantitative MR markers and graph-based features using support vector machines.

Parkinsonism Relat Disord 2018 02 28;47:64-70. Epub 2017 Nov 28.

Functional MR Unit, Policlinico S. Orsola - Malpighi, Via Massarenti 9, 40138, Bologna, Italy; Department of Biomedical and NeuroMotor Sciences, University of Bologna, Via U. Foscolo 7, 40123, Bologna, Italy. Electronic address:

Background And Purpose: In this study we attempt to automatically classify individual patients with different parkinsonian disorders, making use of pattern recognition techniques to distinguish among several forms of parkinsonisms (multi-class classification), based on a set of binary classifiers that discriminate each disorder from all others.

Methods: We combine diffusion tensor imaging, proton spectroscopy and morphometric-volumetric data to obtain MR quantitative markers, which are provided to support vector machines with the aim of recognizing the different parkinsonian disorders. Feature selection is used to find the most important features for classification. We also exploit a graph-based technique on the set of quantitative markers to extract additional features from the dataset, and increase classification accuracy.

Results: When graph-based features are not used, the MR markers that are most frequently automatically extracted by the feature selection procedure reflect alterations in brain regions that are also usually considered to discriminate parkinsonisms in routine clinical practice. Graph-derived features typically increase the diagnostic accuracy, and reduce the number of features required.

Conclusions: The results obtained in the work demonstrate that support vector machines applied to multimodal brain MR imaging and using graph-based features represent a novel and highly accurate approach to discriminate parkinsonisms, and a useful tool to assist the diagnosis.
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http://dx.doi.org/10.1016/j.parkreldis.2017.11.343DOI Listing
February 2018

Proton MR Spectroscopy in Patients With Sleep-Related Hypermotor Epilepsy (SHE): Evidence of Altered Cingulate Cortex Metabolism.

Sleep 2017 09;40(9)

IRCCS Istituto delle Scienze Neurologiche, Bologna.

Study Objectives: To identify structural and/or metabolic alterations in patients with sleep-related hypermotor epilepsy (SHE) using magnetic resonance imaging (MRI) and proton MR spectroscopy (1H-MRS).

Methods: Nineteen SHE patients (seven males; 34.7 ± 9.7 years, mean age ± standard deviation) and 17 matched healthy volunteers (seven males; 34.0 ± 8.9 years) were included in the study. In all patients, the diagnosis of SHE was confirmed by video-polysomnographic recording of seizures. Semiology, seizure frequency, and therapy were assessed for all patients. For each recruited participant, structural MRI and 1H-MRS sequences were acquired. 1H-MRS was performed on two regions of interest: the medial thalamus and the anterior cingulate gyrus.

Results: At examination, five patients were seizure free. In the remainder, seizure frequency ranged from yearly to multiple episodes per night. Brain MRI was normal in all patients but one. The ratio of N-acetyl-aspartate/Creatine (NAA/Cr) was significantly reduced in the anterior cingulate cortex in patients compared to controls (p < .05). Thalamic NAA/Cr showed no differences between patients and controls. Regression analysis showed that NAA/Cr in the anterior cingulate gyrus correlated with seizure frequency (p < .05), being lower in patients with higher seizure frequency.

Conclusions: Given the absence of structural MR changes, our 1H-MRS data point to a functional NAA reduction in the cingulate cortex of SHE patients, more severe in those patients with higher seizure frequency and thus supporting the involvement of the anterior mesial structures in the pathophysiology of SHE.
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http://dx.doi.org/10.1093/sleep/zsx115DOI Listing
September 2017

White matter and cortical changes in atypical parkinsonisms: A multimodal quantitative MR study.

Parkinsonism Relat Disord 2017 06 6;39:44-51. Epub 2017 Mar 6.

Functional MR Unit, Policlinico S. Orsola - Malpighi, via Massarenti 9, 40138, Bologna, Italy; Department of Biomedical and Neuromotor Sciences, University of Bologna, via U. Foscolo 7, 40123, Bologna, Italy.

Objectives: To evaluate white matter and cortical changes in patients with parkinsonisms and healthy controls (HC), applying both hypothesis-free and regions of interest (ROI)-based advanced brain MR analyses.

Methods: Twenty-five patients with Progressive Supranuclear Palsy - Richardson's Syndrome (PSP-RS), nine with cerebellar and nine with parkinsonian Multiple System Atrophy variants (MSA-C and MSA-P), forty-seven with Parkinson's Disease (PD) and twenty-seven HC underwent a 1.5 T brain-MR protocol including high-resolution 3D T1-weighted and 25-direction diffusion tensor imaging sequences. We performed cortical and white matter analysis by using vertex-based cortical thickness evaluation and Tract Based Spatial Statistics (TBSS), followed by a ROI-based cortical thickness analysis and probabilistic tractography of cortico-spinal tract (CST), and middle and superior cerebellar peduncles (MCP and SCP).

Results: In PSP-RS, both ROIs-based and voxel-wise analyses demonstrated significant thinning of the pre-central cortices and diffuse white matter alterations involving supra- and infratentorial compartments. Along-tract tractography analysis of CST showed a significantly higher MD in PSP-RS vs PD and HC limited to the portion of the tract within the corona radiata. In MSA-C, a predominant involvement of MCPs was evident, while alterations in MCPs in MSA-P and in SCPs in PSP-RS and MSA-C were also present.

Conclusion: Specific patterns of cortical and white matter changes in atypical parkinsonism patients reflect the neuropathological and clinical features of these disorders. This study shows that quantitative brain MR techniques can detect significant changes that help to elucidate the physiopathology of movement disorders and support their differential diagnosis.
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http://dx.doi.org/10.1016/j.parkreldis.2017.03.001DOI Listing
June 2017

The effect of diffusion gradient direction number on corticospinal tractography in the human brain: an along-tract analysis.

MAGMA 2017 Jun 20;30(3):265-280. Epub 2016 Dec 20.

Functional MR Unit, Policlinico S. Orsola - Malpighi, Via Massarenti 9, Bologna, Italy.

Objectives: We evaluated diffusion imaging measures of the corticospinal tract obtained with a probabilistic tractography algorithm applied to data of two acquisition protocols based on different numbers of diffusion gradient directions (NDGDs).

Materials And Methods: The corticospinal tracts (CST) of 18 healthy subjects were delineated using 22 and 66-NDGD data. An along-tract analysis of diffusion metrics was performed to detect possible local differences due to NDGD.

Results: FA values at 22-NDGD showed an increase along the central portion of the CST. The mean of partial volume fraction of the orientation of the second fiber (f2) was higher at 66-NDGD bilaterally, because for 66-NDGD data the algorithm more readily detects dominant fiber directions beyond the first, thus the increase in FA at 22-NDGD is due to a substantially reduced detection of crossing fiber volume. However, the good spatial correlation between the tracts drawn at 22 and 66 NDGD shows that the extent of the tract can be successfully defined even at lower NDGD.

Conclusions: Given the spatial tract localization obtained even at 22-NDGD, local analysis of CST can be performed using a NDGD compatible with clinical protocols. The probabilistic approach was particularly powerful in evaluating crossing fibers when present.
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http://dx.doi.org/10.1007/s10334-016-0600-1DOI Listing
June 2017

Precuneal Thickness and Depression in Parkinson Disease.

Neurodegener Dis 2017 24;17(2-3):97-102. Epub 2016 Nov 24.

Functional MR Unit, Policlinico S. Orsola - Malpighi, Bologna, Italy.

Background: Depression-related gray matter changes in Parkinson disease (PD) patients have been reported, although studies investigating cortical thickness in early-stage disease are lacking.

Objective: We aimed to evaluate cortical changes related to depression in early-stage PD patients with an extensive neuropsychological evaluation.

Methods: 17 PD patients and 22 healthy controls underwent a 1.5-T brain MR protocol, and voxel-wise differences in cortical thickness among patients with (n = 6) and without (n = 11) depression and controls were evaluated using FreeSurfer software.

Results: Cortical thickness was increased in the precuneus bilaterally in PD patients with depression compared to the other groups (number of vertices >100; p < 0.001, uncorrected) with a direct correlation with the Beck Depression Inventory score (p < 0.001, uncorrected).

Conclusion: Precuneal cortical thickening is evident in PD patients with mild-moderate depression even in the early stages of the disease. This finding may reflect the early involvement of this region in the development of PD-related depression.
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http://dx.doi.org/10.1159/000450614DOI Listing
September 2017

Brain structural profile of multiple system atrophy patients with cognitive impairment.

J Neural Transm (Vienna) 2017 03 24;124(3):293-302. Epub 2016 Oct 24.

Parkinson Disease and Movement Disorders Unit, IRCCS San Camillo Hospital Foundation, via Alberoni, 70, 30126, Venice-Lido, Italy.

Current consensus diagnostic criteria for multiple system atrophy (MSA) consider dementia a non-supporting feature, although cognitive impairment and even frank dementia are reported in clinical practice. Mini-Mental State Examination (MMSE) is a commonly used global cognitive scale, and in a previous study, we established an MSA-specific screening cut-off score <27 to identify cognitive impairment. Finally, MSA neuroimaging findings suggest the presence of structural alterations in patients with cognitive deficits, although the extent of the anatomical changes is unclear. The aim of our multicenter study is to better characterize anatomical changes associated with cognitive impairment in MSA and to further investigate cortical and subcortical structural differences versus healthy controls (HC). We examined retrospectively 72 probable MSA patients [50 with normal cognition (MSA-NC) and 22 cognitively impaired (MSA-CI) based on MMSE <27] and compared them to 36 HC using gray- and white-matter voxel-based morphometry and fully automated subcortical segmentation. Compared to HC, MSA patients showed widespread cortical (bilateral frontal, occipito-temporal, and parietal areas), subcortical, and white-matter alterations. However, MSA-CI showed only focal volume reduction in the left dorsolateral prefrontal cortex compared with MSA-NC. These results suggest only a marginal contribution of cortical pathology to cognitive deficits. We believe that cognitive dysfunction is driven by focal fronto-striatal degeneration in line with the concept of "subcortical cognitive impairment".
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http://dx.doi.org/10.1007/s00702-016-1636-0DOI Listing
March 2017

Magnetic Resonance Parkinsonism Index: diagnostic accuracy of a fully automated algorithm in comparison with the manual measurement in a large Italian multicentre study in patients with progressive supranuclear palsy.

Eur Radiol 2017 Jun 19;27(6):2665-2675. Epub 2016 Oct 19.

Institute of Bioimaging and Molecular Physiology, National Research Council, 88100, Catanzaro, Italy.

Objectives: To investigate the reliability of a new in-house automatic algorithm for calculating the Magnetic Resonance Parkinsonism Index (MRPI), in a large multicentre study population of patients affected by progressive supranuclear palsy (PSP) or Parkinson's disease (PD), and healthy controls (HC), and to compare the diagnostic accuracy of the automatic and manual MRPI values.

Methods: The study included 88 PSP patients, 234 PD patients and 117 controls. MRI was performed using both 3T and 1.5T scanners. Automatic and manual MRPI values were evaluated, and accuracy of both methods in distinguishing PSP from PD and controls was calculated.

Results: No statistical differences were found between automated and manual MRPI values in all groups. The automatic MRPI values differentiated PSP from PD with an accuracy of 95 % (manual MRPI accuracy 96 %) and 97 % (manual MRPI accuracy 100 %) for 1.5T and 3T scanners, respectively.

Conclusion: Our study showed that the new in-house automated method for MRPI calculation was highly accurate in distinguishing PSP from PD. Our automatic approach allows a widespread use of MRPI in clinical practice and in longitudinal research studies.

Key Points: • A new automatic method for calculating the MRPI is presented. • Automatic MRPI values are in good agreement with manual values. • Automatic MRPI can distinguish patients with PSP from patients with PD. • The automatic method overcomes MRPI application limitations in routine practice. • The automatic method may allow a more widespread use of MRPI.
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http://dx.doi.org/10.1007/s00330-016-4622-xDOI Listing
June 2017

Voxel-based morphometry to detect effect of APOE on brain gray matter changes in Parkinson's Disease.

Psychiatry Res Neuroimaging 2016 Aug 12;254:177-9. Epub 2016 Jul 12.

Institute of Molecular Bioimaging and Physiology of the National Research Council (IBFM-CNR), University Magna Graecia, Catanzaro, Italy; Institute of Neurology, University "Magna Graecia", Catanzaro, Italy.

The goal of the study was to determine association between APOE Ɛ4 and gray matter changes in PD patients, with or without dementia. Twenty-five PD patients with the APOE Ɛ4 (13 with dementia), 24 without Ɛ4 (12 with dementia), and 26 controls were selected. We found no significant differences between PD patients and controls, or between PD patients with and without the APOE Ɛ4 allele, with regard to VBM analysis. Our results provide no evidence of an association of the APOE Ɛ4 and gray matter degenerative changes in patients with PD, either with or without dementia.
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http://dx.doi.org/10.1016/j.pscychresns.2016.07.006DOI Listing
August 2016

Liver transplantation for mitochondrial neurogastrointestinal encephalomyopathy.

Ann Neurol 2016 Sep 4;80(3):448-55. Epub 2016 Aug 4.

Department of Surgical and Medical Sciences, University of Bologna, Bologna, Italy.

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a fatal, recessive disease caused by mutations in the gene encoding thymidine phosphorylase, leading to reduced enzymatic activity, toxic nucleoside accumulation, and secondary mitochondrial DNA damage. Thymidine phosphorylase replacement has been achieved by allogeneic hematopoietic stem cell transplantation, a procedure hampered by high mortality. Based on high thymidine phosphorylase expression in the liver, a 25-year-old severely affected patient underwent liver transplantation. Serum levels of toxic nucleosides rapidly normalized. At 400 days of follow-up, the patient's clinical conditions are stable. We propose liver transplantation as a new therapy for MNGIE. Ann Neurol 2016;80:448-455.
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http://dx.doi.org/10.1002/ana.24724DOI Listing
September 2016

Accuracy of MR markers for differentiating Progressive Supranuclear Palsy from Parkinson's disease.

Neuroimage Clin 2016 30;11:736-742. Epub 2016 May 30.

Functional MR Unit, Policlinico S. Orsola - Malpighi, Bologna, Italy; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.

Background: Advanced brain MR techniques are useful tools for differentiating Progressive Supranuclear Palsy from Parkinson's disease, although time-consuming and unlikely to be used all together in routine clinical work. We aimed to compare the diagnostic accuracy of quantitative morphometric, volumetric and DTI metrics for differentiating Progressive Supranuclear Palsy-Richardson's Syndrome from Parkinson's disease.

Methods: 23 Progressive Supranuclear Palsy-Richardson's Syndrome and 42 Parkinson's disease patients underwent a standardized 1.5T brain MR protocol comprising high-resolution T1W1 and DTI sequences. Brainstem and cerebellar peduncles morphometry, automated volumetric analysis of brain deep gray matter and DTI metric analyses of specific brain structures were carried out. We determined diagnostic accuracy, sensitivity and specificity of MR-markers with respect to the clinical diagnosis by using univariate receiver operating characteristics curve analyses. Age-adjusted multivariate receiver operating characteristics analyses were then conducted including only MR-markers with a sensitivity and specificity exceeding 80%.

Results: Morphometric markers (midbrain area, pons to midbrain area ratio and MR Parkinsonism Index), DTI parameters (infratentorial structures) and volumetric analysis (thalamus, putamen and pallidus nuclei) presented moderate to high diagnostic accuracy in discriminating Progressive Supranuclear Palsy-Richardson's Syndrome from Parkinson's disease, with midbrain area showing the highest diagnostic accuracy (99%) (mean ± standard deviation: 75.87 ± 16.95 mm(2) vs 132.45 ± 20.94 mm(2), respectively; p < 0.001).

Conclusion: Although several quantitative brain MR markers provided high diagnostic accuracy in differentiating Progressive Supranuclear Palsy-Richardson's Syndrome from Parkinson's disease, the morphometric assessment of midbrain area is the best single diagnostic marker and should be routinely included in the neuroradiological work-up of parkinsonian patients.
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http://dx.doi.org/10.1016/j.nicl.2016.05.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4908307PMC
October 2017

Relationship of white and gray matter abnormalities to clinical and genetic features in myotonic dystrophy type 1.

Neuroimage Clin 2016 3;11:678-685. Epub 2016 May 3.

Department of Biomedical and NeuroMotor Sciences, University of Bologna, via Ugo Foscolo 7, 40123 Bologna, Italy; IRCCS Istituto delle Scienze Neurologiche di Bologna, via Altura 3, 40139 Bologna, Italy.

Background: Myotonic dystrophy type 1 (DM1) represents a multisystemic disorder in which diffuse brain white and gray matter alterations related to clinical and genetic features have been described. We aimed to evaluate in the brain of adult patients with DM1 (i) white and gray matter differences, including cortical-subcortical gray matter volume and cortical thickness and (ii) their correlation with clinical disability, global neuropsychological performance and triplet expansion.

Methods: We included 24 adult genetically-confirmed DM1 patients (14 males; age: 38.5 ± 11.8 years) and 25 age- and sex-matched healthy controls (14 males; age: 38.5 ± 11.3 years) who underwent an identical brain MR protocol including high-resolution 3D T1-weighted, axial T2 FLAIR and DTI sequences. All patients underwent an extensive clinical and neuropsychological evaluation. Voxel-wise analyses of white matter, performed by using Tract Based Spatial Statistics, and of gray matter, with Voxel-based Morphometry and Cortical Thickness, were carried out in order to test for differences between patients with DM1 and healthy controls (p < 0.05, corrected). The correlation between MRI measures and clinical-genetic features was also assessed.

Results: Patients with DM1 showed widespread abnormalities of all DTI parameters in the white matter, which were associated with reduced gray matter volume in all brain lobes and thinning in parieto-temporo-occipital cortices, albeit with less extensive cortical alterations when congenital cases were removed from the analyses. White matter alterations correlated with clinical disability, global cognitive performance and triplet expansions.

Conclusion: In patients with DM1, the combined smaller overall gray matter volume and white matter alterations seem to be the main morpho-structural substrates of CNS involvement in this condition. The correlation of white matter differences with both clinical and genetic findings lends support to this notion.
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http://dx.doi.org/10.1016/j.nicl.2016.04.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4900512PMC
October 2017