Open AccessSurvival and severity in dominant cerebellar ataxias
Author(s) -
Monin MarieLorraine,
Tezenas du Montcel Sophie,
Marelli Cecilia,
Cazeneuve Cecile,
Charles Perrine,
Tallaksen Chantal,
Forlani Sylvie,
Stevanin Giovanni,
Brice Alexis,
Durr Alexandra
Publication year - 2015
Publication title -
annals of clinical and translational neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.824
H-Index - 42
ISSN - 2328-9503
DOI - 10.1002/acn3.156
Subject(s) - medicine , spinocerebellar ataxia , overall survival , oncology , pediatrics , disease
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 SCA s ( P < 0.001). This has implications for genetic counseling and the design of therapeutic trials.