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.
References
Jan 1, 1992·Movement Disorders : Official Journal of the Movement Disorder Society·R N Rosenberg
Dec 1, 1995·Brain : a Journal of Neurology·A DürrJ Dellanave
Apr 1, 1996·Annals of Neurology·L G GoldfarbD C Gajdusek
May 13, 1998·Brain : a Journal of Neurology·T KlockgetherJ Dichgans
Aug 6, 2000·Movement Disorders : Official Journal of the Movement Disorder Society·T KlockgetherB Evert
Mar 13, 2002·Neurology·B P C van de WarrenburgH P H Kremer
Feb 5, 2005·Acta Neurologica Scandinavica·V JuvonenM-L Savontaus
Sep 27, 2007·Clinical Genetics·C KielingL B Jardim
Aug 8, 2008·Neurology·T Schmitz-HübschT Klockgether
Sep 2, 2008·Movement Disorders : Official Journal of the Movement Disorder Society·Christoph GlobasLudger Schols
Jul 28, 2009·NeuroImage·Jörg B SchulzTill-Karsten Hauser
Dec 18, 2009·The Cerebellum·Kathrin ReetzFerdinand Binkofski
Aug 21, 2010·Lancet Neurology·Alexandra Durr
Aug 13, 2011·Neurology·H JacobiT Klockgether
Apr 12, 2012·Archives of Neurology·Sophie Tezenas du MontcelAlexandra Durr
Apr 17, 2012·The Lancet Oncology·Jianguang JiJan Sundquist
May 28, 2013·Lancet Neurology·Heike JacobiThomas Klockgether
Jul 30, 2014·American Journal of Human Genetics·Eleonora Di GregorioAlfredo Brusco
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
Nov 27, 2018·F1000Research·Giulia CoarelliAlexandra Durr
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