ORCID
- Bunn, Lisa: 0000-0002-7263-3048
Abstract
AbstractBackgroundHereditary ataxias are a heterogeneous group of degenerative diseases of the cerebellum, brainstem, and spinal cord. They may present with isolated ataxia or with additional symptoms going beyond cerebellar deficits. There are an increasing number of clinical studies with the goal to define the natural history of these disorders, develop biomarkers, and investigate therapeutic interventions. Especially, early and preclinical disease stages are currently of particular interest.Methods and ResultsEvidence‐based, we review standards for sampling and storage of biomaterials, clinical and neuropsychological assessment, as well as neurophysiology and neuroimaging and recommendations for standardized assessment of ataxia patients in multicenter studies.ConclusionsDNA, RNA, serum, and, if possible, cerebrospinal fluid samples should be processed following established standards. Clinical assessment in ataxia studies must include use of a validated clinical ataxia scale. There are several validated clinical ataxia scales available. There are no instruments that were specifically designed for assessing neuropsychological and psychiatric symptoms in ataxia disorders. We provide a list of tests that may prove valuable. Quantitative performance tests have the potential to supplement clinical scales. They provide additional objective and quantitative information. Posturography and quantitative movement analysis—despite valid approaches—require standardization before implemented in multicenter studies. Standardization of neurophysiological tools, as required for multicenter interventional trials, is still lacking. Future multicenter neuroimaging studies in ataxias should implement quality assurance measures as defined by the ADNI or other consortia. MRI protocols should allow morphometric analyses.
DOI
10.1002/mdc3.12315
Publication Date
2016-05-01
Publication Title
Movement Disorders Clinical Practice
Volume
3
Issue
3
Organisational Unit
School of Health Professions
First Page
230
Last Page
240
Recommended Citation
Paap, B. K., Roeske, S., Durr, A., Schöls, L., Ashizawa, T., Boesch, S., Bunn, L., Delatycki, M., Giunti, P., Lehéricy, S., Mariotti, C., Melegh, J., Pandolfo, M., Tallaksen, C., Timmann, D., Tsuji, S., Schulz, J., van, d., & Klockgether, T. (2016) 'Standardized Assessment of Hereditary Ataxia Patients in Clinical Studies', Movement Disorders Clinical Practice, 3(3), pp. 230-240. Available at: https://doi.org/10.1002/mdc3.12315
