Year: 2015
Type: article
Study design: Observational Study
Abstract: Inherited spinocerebellar ataxias (SCAs) are known to be genetically and clinically heterogeneous. Whether severity and survival are variable, however, is not known. We, therefore, studied survival and severity in 446 cases and 509 relatives with known mutations. Survival was 68 years [95% CI: 65-70] in 223 patients with polyglutamine expansions versus 80 years [73-84] in 23 with other mutations (P < 0.0001). Disability was also more severe in the former: at age 60, 30% were wheelchair users versus 3% with other SCAs (P < 0.001). This has implications for genetic counseling and the design of therapeutic trials.
DOI: 10.1002/acn3.156
Institutions: Centre National de la Recherche Scientifique, Inserm, Assistance Publique – Hôpitaux de Paris, Pitié-Salpêtrière Hospital, Institut du Cerveau, Université Pierre-et-Marie-Curie, Institut Pierre Louis d‘Épidémiologie et de Santé Publique, Hôpital Gui de Chauliac, University of Oslo, École Pratique des Hautes Études
Language: English
Subfield: Cellular and Molecular Neuroscience
Field: Neuroscience
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $4,100
OpenAlex ID: W2161520201