Collection-image

TOPICAL COLLECTIONS

Current Research Methods in the Study of Cerebellar Ataxias

Submit Abstract

Guest Editor

Marinela Vavla

Marinela Vavla

University of Foggia, Foggia, Italy, Department of Medical and Surgical Sciences; University Hospital Policlinico Riuniti, Foggia, Italy, Institute of Respiratory Diseases

Marinela Vavla is a medical doctor and a neuroscientist. She graduated in Medicine and Surgery from the University of Florence and is currently a Resident in Respiratory Medicine at the University of Foggia (Italy). Additionally, she holds degrees in MSc in Neuroscience from King's College, University of London and a PhD from the University of Padua. She has a main interest in the field of neuromuscular disorders, in particular cerebellar ataxias (e.g. Friedreich’s Ataxia), and also in Hereditary Spastic Paraplegia, Glycogen Storage disorders, Cerebral Palsy, Parkinson's Disease and Motor Control. Her main field of study is focused on the application of neuroimaging in Friedreich’s Ataxia, integrating advanced MRI techniques with clinical assessment, and search for disease biomarkers. Furthermore, the research expertise evolved in clinical study design and conduction, neuromodulation, and rehabilitation in ataxic patients. She is enthusiastic and curious about finding new alternatives of studying rare neurological disorders by optimizing the research methodology, exploring adequate paradigms in the study design process, and promoting early diagnosis and screening.

Collection Overview

Friedreich’s Ataxia (FRDA) is a rare and progressive cerebellar neurological disorder with multisystemic involvement. FRDA is caused by a GAA triplet expansion in the FXN gene, leading to a deficit of the frataxin protein. No cure is currently available despite the high-yielding research over the last 25 years.

The aim of this Methods Collection is to bring together cutting-edge protocols that explore FRDA pathology from basic research to clinical and multidisciplinary approaches. This Collection includes expertise across different areas of medicine (neurology, radiology, cardiology, pulmonology, audiology, rehabilitation medicine, orthopedics, endocrinology), biology, bioengineering, pharmacology, etc., and covers important areas of FRDA research focused on the assessment of basic research, clinical assessment, diagnosis, and early diagnosis and screening, neuroimaging, clinical trials, new molecules investigation, rehabilitation, neuromodulation. The Collection mostly focuses on FRDA, but the methods may also be adapted and applied to other progressive cerebellar ataxias.

Articles

A Standardized Pipeline for Examining Human Cerebellar Grey Matter Morphometry using Structural Magnetic Resonance Imaging
11:50

A Standardized Pipeline for Examining Human Cerebellar Grey Matter Morphometry using Structural Magnetic Resonance Imaging

0 Views

•

Cited by 22

•

2022

•

Abstracts

The Friedreich Ataxia Clinical Outcome Measures Study

David Lynch*1,

Jennifer Farmer2,

Christian Rummey3

1University of Pennsylvania,

2FARA,

3Clinical Data Science

A Standardized Multimodal Protocol for the Study of Cerebellar Ataxias: Integration of Neuroimaging, Electrophysiology, and Wearable Biosensors

Ali Msheik*1

1Hamad Medical Corporation