Survival and severity in dominant cerebellar ataxias

Annals of Clinical and Translational Neurology
Marie-Lorraine MoninAlexandra Durr

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.

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Citations

Sep 1, 2015·Lancet Neurology·Alexandra Durr
Jun 17, 2018·Annals of Neurology·Hayley S McLoughlinHenry L Paulson
Jan 27, 2018·Orphanet Journal of Rare Diseases·Thais Lampert MonteUNKNOWN Rede Neurogenética
Sep 1, 2017·Nature Reviews. Neuroscience·Henry L PaulsonHarry T Orr
Jun 19, 2019·Movement Disorders : Official Journal of the Movement Disorder Society·Alhassane DialloSophie Tezenas du Montcel
Apr 27, 2017·Brain : a Journal of Neurology·Marie CoutelierUNKNOWN SPATAX network
Jan 5, 2019·Neurotherapeutics : the Journal of the American Society for Experimental NeuroTherapeutics·Ronald A M BuijsenWilleke M C van Roon-Mom
Apr 29, 2020·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Giovanna De MicheleFilippo M Santorelli
Oct 31, 2020·Journal of Movement Disorders·Yannic SaathoffChristian Roth
May 1, 2021·International Journal of Molecular Sciences·Ricardo Afonso-ReisClévio Nóbrega
May 8, 2021·Clinical Genetics·Lucas Schenatto SenaLaura Bannach Jardim

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