Marta Panzeri
A5089071653- Genetic Neurodegenerative Diseases
- Mitochondrial Function and Pathology
- DNA Repair Mechanisms
- Parkinson's Disease Mechanisms and Treatments
- Hereditary Neurological Disorders
- Neurological disorders and treatments
- Botulinum Toxin and Related Neurological Disorders
- Motor Control and Adaptation
- Eating Disorders and Behaviors
- Neurological diseases and metabolism
- Cardiac electrophysiology and arrhythmias
- Fibromyalgia and Chronic Fatigue Syndrome Research
- Cardiovascular Function and Risk Factors
- Ophthalmology and Eye Disorders
- Cerebral Palsy and Movement Disorders
- Vestibular and auditory disorders
- Empathy and Medical Education
- Sexual Differentiation and Disorders
- Parkinson's Disease and Spinal Disorders
- Health Systems, Economic Evaluations, Quality of Life
- Visual perception and processing mechanisms
- BRCA gene mutations in cancer
- Ion channel regulation and function
- Action Observation and Synchronization
- Genomics and Rare Diseases
University Hospital Bonn
2023
ZB MED - Information Centre for Life Sciences
2023
Hôpital Gui de Chauliac
2023
Max Delbrück Center
2023
Charité - Universitätsmedizin Berlin
2023
Fondazione IRCCS Istituto Neurologico Carlo Besta
2010-2019
Istituti di Ricovero e Cura a Carattere Scientifico
2017
University College London
2015
Assistance Publique – Hôpitaux de Paris
2015
IRCCS Policlinico San Donato
2009-2010
Background and purpose The autosomal recessive spastic ataxia of C harlevoix‐ S aguenay ( ARSACS ) is an early‐onset neurodegenerative disorder caused by mutations in the SACS gene. disease, first described anadian families from Q uébec, characterized cerebellar ataxia, pyramidal tract involvement peripheral neuropathy. Methods Analysis gene allowed identification 14 patients with 13 unrelated Italian families. Clinical phenotype, magnetic resonance imaging (MRI) findings were analysed....
Background and purpose: A quality of life (QoL) questionnaire for neuromuscular diseases was recently constructed validated in the United Kingdom a sample adult patients with variety muscle disorders. Preliminary results suggested it could be more relevant practical measure QoL than generic health measures QoL. The purpose our work was: (i) To validate INQoL Italy on larger (ii) to compare SF‐36. Methods: We have translated into Italian applied language adaptations original UK version....
Abstract Objectives/background Ataxia with oculomotor apraxia defines a group of genetically distinct recessive ataxias including ataxia-telangectasia (A-T, ATM gene), ataxia type 1 (AOA1, APTX gene) and 2 (AOA2, SETX gene). Although, few unique clinical features differentiate each these forms, the patients also share common signs, such as presence cerebellar atrophy, sensorimotor axonal neuropathy, elevated alpha-fetoprotein (AFP) serum level. Materials methods We selected 22 Italian from...
Abstract Background Spinocerebellar ataxias ( SCA s) are dominantly inherited, progressive ataxia disorders. Disease progression could be preceded by weight loss. Objectives We aimed to study the course of loss in patients who had most common s 1, 2 3, and 6). Additional objectives were identify subgroups evolution, determine factors influencing these evolutions, assess impact evolutions on disease progression. Methods In total, 384 from EUROSCA prospective cohort analyzed 2, or 6 at least 3...
Little is known about the progression of health-related quality life (HRQoL) and predicting factors in spinocerebellar ataxia (SCA). Such knowledge crucial to identify modifiable promoting everyday with SCA attenuating HRQoL decline.
Abstract Although health-related quality of life (HRQoL) has developed into a crucial outcome parameter in clinical research, evidence the EQ-5D-3L validation performance is lacking patients with spinocerebellar ataxia (SCA) types 1, 2, 3, and 6. The objective this study to assess acceptability, validity, reliability, responsiveness EQ-5D-3L. For n = 842 predominantly European SCA two longitudinal cohort studies, EQ-5D-3L, PHQ-9 (Patient Health Questionnaire), ataxia-specific assessments...
Abstract Background Spinocerebellar ataxias are rare dominantly inherited neurodegenerative diseases that lead to severe disability and premature death. Objective To quantify the impact of disease progression measured by Scale for Assessment Rating Ataxia on survival, identify different profiles survival. Methods Four hundred sixty‐two spinocerebellar ataxia patients from EUROSCA prospective cohort study, suffering type 1, 2, 3, 6, who had at least two measurements score, were analyzed....
Purpose: Spinocerebellar ataxias type 2 and 28 (SCA2, SCA28) are autosomal dominant disorders characterized by progressive cerebellar oculomotor abnormalities. We aimed to investigate cerebellar, brainstem, extraocular muscle involvement in the mitochondrial SCA28 disease compared with SCA2. Methods: obtained orbital brain 1.5 T–magnetic resonance images (MRI) eight subjects, nine SCA2, age-matched healthy subjects. Automated segmentation of cerebellum frontal lobe was performed using...
Performance of timed motor sequences relies on the cerebellum and basal ganglia, which integrate proprioceptive information during task set internal timing mechanisms. Accordingly, these structures are also involved in other temporal processes, such as discrimination different afferent domain time. In present study we tested processing tactile stimuli 20 patients with neurodegenerative cerebellar ataxia age- sex-matched healthy subjects. Tactile threshold was defined value at subjects...
The sense of the body is deeply rooted in humans, and it can be experimentally manipulated by inducing illusions at least two aspects: a subjective feeling ownership proprioceptive limb position. Previous studies mapped these different aspects onto anatomically distinct neuronal regions, with ventral premotor cortex processing experience inferior parietal lobule calibration. Lines evidence suggest an involvement also cerebellum, but its precise role not clear yet. To investigate contribution...
The identification of the molecular basis numerous hereditary neurological disorders allowed feasibility predictive genetic tests for at-risk family members. In agreement with international guidelines, we tested a protocol test to optimize cooperation among specialists, well-being participants, and organization clinical activities. psychiatrist/psychologist did not meet subjects, but cooperated team, integrating psychological support participants clinicians. We enrolled 60 subjects at risk...
To validate, examine the internal validity, and adapt to children electronic version of composite cerebellar functional severity (CCFS) score.In this multicenter study, we compared validated manual device with new (n = 46) analyzed its kinetics in 146 patients Friedreich ataxia through EFACTS (European Friedreich's Ataxia Consortium for Translational Studies) network, 77 spinocerebellar ataxia, 48 controls. We CCFS ataxias healthy 120) network 33).We showed that is a reliable replacement...
Lo scopo del presente studio č di costruire per la popolazione italiana una versione maschile, il Brief Index of Sexual Functioning for Men (BISF-M), Women (BISF-W) e valutarne le proprietŕ psicometriche. Il campione studiato consiste 190 uomini italiani etŕ compresa tra i 18 74 anni. Č stata condotta un'analisi fattoriale esplorativa (EFA) con metodo delle componenti principali rotazione VARIMAX. Sulla base dello sreetest sono stati considerati 4 fattori che spiegano 47% della varianza...
Cardiac involvement in myotonic dystrophy type 1 (DM1) is frequent with increased incidence of conduction disturbances and sudden cardiac death when compared general population. We describe a 38-year-old man whom the diagnosis DM1 was made 8 years after occurrence arrest owing to ventricular fibrillation discuss management patients at risk for death.
Abstract With SCAview, we present a prompt and comprehensive tool that enables scientists to browse large datasets of the most common spinocerebellar ataxias intuitively without technical effort. Basic concept is visualization data, with graphical handling filtering select define subgroups their comparison. Several plot types visualize all data points resulting from selected attributes are provided. The underlying synthetic cohort based on clinical five different European US longitudinal...