A5041850803- Genetic Neurodegenerative Diseases
- Mitochondrial Function and Pathology
- Neurological disorders and treatments
- Parkinson's Disease Mechanisms and Treatments
- Advanced Neuroimaging Techniques and Applications
- Dementia and Cognitive Impairment Research
- Functional Brain Connectivity Studies
- Multiple Sclerosis Research Studies
- Alzheimer's disease research and treatments
- Systemic Lupus Erythematosus Research
- Advanced MRI Techniques and Applications
- Amyotrophic Lateral Sclerosis Research
- Hereditary Neurological Disorders
- EEG and Brain-Computer Interfaces
- Neurological diseases and metabolism
- Psychosomatic Disorders and Their Treatments
- Retinal Imaging and Analysis
- Neuroscience and Neuropharmacology Research
- Medical Imaging Techniques and Applications
- Cerebral Venous Sinus Thrombosis
- Neurological and metabolic disorders
- Muscle Physiology and Disorders
- Fibromyalgia and Chronic Fatigue Syndrome Research
- Glioma Diagnosis and Treatment
- Retinal Diseases and Treatments
University of Naples Federico II
2016-2025
Federico II University Hospital
2014-2024
European Huntington's Disease Network
2021-2023
Huntington's Disease Association
2021
Istituti di Ricovero e Cura a Carattere Scientifico
2020
University of Florence
2020
SDN Istituto di Ricerca Diagnostica e Nucleare
2018-2020
Azienda Ospedaliera Universitaria Senese
2020
National Archaeological Museum
2013
Brescia University
2013
<b>Objective:</b> To determine the longitudinal metric properties of recently developed clinical assessment tools in spinocerebellar ataxia (SCA). <b>Methods:</b> A subset 171 patients from EUROSCA natural history study cohort (43 SCA1, 61 SCA2, 37 SCA3, and 30 SCA6) were examined after 1 year follow-up. Score changes effect size indices calculated for scales (Scale Assessment Rating Ataxia [SARA], Inventory Non-Ataxia Symptoms [INAS]), functional tests (SCA Functional Index [SCAFI]...
Cortical sources of resting state electroencephalographic (EEG) rhythms are abnormal in subjects with Alzheimer's disease (AD). Here we tested the hypothesis that these also sensitive to progression early stage AD over course o
Abstract This is a description of the prevalence and profile depressive symptoms in dominant spinocerebellar ataxia (SCA). Depressive were assessed convenience sample 526 genetically confirmed clinically affected patients (117 SCA1, 163 SCA2, 139 SCA3, 107 SCA6) using Patient Health Questionnaire (PHQ). In addition, status according to examiner use antidepressants was recorded. Depression self‐assessment compared with an interview‐based psychiatric assessment subset 26 patients. estimates...
Background and purpose Heterozygous mutations in the STUB1 gene have recently been associated with an autosomal dominant form of spinocerebellar ataxia (SCA) cerebellar cognitive‐affective syndrome (CCAS), named SCA48. Methods Molecular screening was performed a cohort 235 unrelated patients adult‐onset, (17) or sporadic (218) ataxia, negative for pathological trinucleotide expansions common SCAs, FRDA FXTAS loci, by using targeted multigene panels whole‐exome sequencing. Bioinformatics...
A large body of evidence suggests that, besides their cholesterol-lowering effect, statins exert anti-inflammatory action. Consequently, may have therapeutic potential in immune-mediated disorders such as multiple sclerosis. Our objectives were to determine safety, tolerability and efficacy low-dose atorvastatin plus high-dose interferon beta-1a sclerosis patients responding poorly alone. Relapsing—remitting patients, aged 18—50 years, with contrast-enhanced lesions or relapses while on...
Neuropathological descriptions of the brain in Friedreich's ataxia (FRDA) were obtained before availability current molecular genetic tests for this disease. Voxel-based morphometry (VBM) enables an unbiased whole-brain quantitative analysis differences gray matter (GM) and white (WM) volume.Using VBM, we assessed structural damage 22 patients with genetically confirmed FRDA 25 healthy controls. The results correlated disease duration severity patients' clinical deficits--evaluated using...
In amyotrophic lateral sclerosis (ALS), gait abnormalities contribute to poor mobility and represent a relevant risk for falls. To date, studies in ALS patients have focused on the motor dimension of disease, underestimating cognitive aspects.Using wearable analysis device, we compared patterns ambulatory with mild impairment (ALS MCI+; n = 18), without MCI MCI-; 24), healthy subjects (HS; 16) under two conditions: (1) normal (single task) (2) walking while counting backward (dual task)....
Multiple system atrophy can be classified into two main types, a Parkinsonian (MSA-P) and cerebellar (MSA-C) variant based on clinical presentation. We obtained diffusion-weighted magnetic resonance imaging (DWI) in 9 MSA-P 12 MSA-C patients 11 controls, correlated DWI changes with disease duration severity. found that Trace (D) values the entire anterior putamen were significantly higher than whereas cerebellum middle peduncle (MCP) controls. Increased was increased pons of patients, MCP...
Previous MRI studies of functional connectivity in pre-symptomatic mutation carriers Huntington's disease (HD) have shown dysfunction the Default-Mode Network (DMN). No data however are currently available on DMN alterations symptomatic stages disease, which characterized by cortical atrophy involving several nodes. We assessed integrity and its possible correlations with motor cognitive symptoms 26 HD patients as compared to 22 normal volunteers, analyzing resting state data, using...