Standardized Assessment of Hereditary Ataxia Patients in Clinical Studies

Brigitte K. Paap, Sandra Roeske, Alexandra Durr, Ludger Schöls, Tetsuo Ashizawa, Sylvia Boesch, Lisa M. Bunn, Martin B. Delatycki, Paola Giunti, Stéphane Lehéricy, Caterina Mariotti, Jörg Melegh, Massimo Pandolfo, Chantal M.E. Tallaksen, Dagmar Timmann, Shoji Tsuji, Jörg Bela Schulz, Bart P. van de Warrenburg, Thomas Klockgether

Research output: Contribution to journalArticlepeer-review

10 Scopus citations


Background: Hereditary 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 Results: Evidence-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. Conclusions: DNA, 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.

Original languageEnglish (US)
Pages (from-to)230-240
Number of pages11
JournalMovement Disorders Clinical Practice
Issue number3
StatePublished - May 1 2016


  • Ataxia
  • Biomaterial
  • Clinical assessment
  • Quantitative performance tests
  • Rating scales

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology


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