Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia

Conclusions: Our study provides quantitative data on the clinical phenotype and progression of sporadic ataxia with adult onset. Screening for causative mutations with a gene panel approach yielded a genetic diagnosis in 6% of the cohort. ClinicalTrials.gov registration: NCT02701036.

http://www.neurology.org/cgi/content/short/89/10/1043?rss=1

Source: Neurology - September 4, 2017 Category: Neurology Authors: Giordano, I., Harmuth, F., Jacobi, H., Paap, B., Vielhaber, S., Machts, J., Schöls, L., Synofzik, M., Sturm, M., Tallaksen, C., Wedding, I. M., Boesch, S., Eigentler, A., van de Warrenburg, B., van Gaalen, J., Kamm, C., Dudesek, A., Kang, J.-S., T Tags: Gait disorders/ataxia, Multiple system atrophy, Cerebellum, Natural history studies (prognosis) ARTICLE Source Type: research