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.
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Cited by 22
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2022
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Rebecca Kerestes1, Shuo Han2, Srinivas Balachander3, Carlos Hernandez-Castillo4, Jerry L. Prince5,6, Jörn Diedrichsen7, Ian H. Harding1,8
1Department of Neuroscience, Central Clinical School, Monash University, 2Department of Biomedical Engineering, The Johns Hopkins University, 3Department of Psychiatry, National Institute of Mental Health & Neuro Sciences (NIMHANS), 4Faculty of Computer Science, Dalhousie University, 5Department of Electrical and Computer Engineering, The Johns Hopkins University, 6Department of Computer Science, The Johns Hopkins University, 7Brain and Mind Institute, Department for Statistical and Actuarial Sciences, Department for Computer Science, Western University, 8Monash Biomedical Imaging, Monash University
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