Funding agencies: A.D. was supported by a Fonds de Recherche du Québec-Santé fellowship, a Bourse de prestige du Réseau Québécois de Recherche sur le Vieillissement, a Canadian Institute for Health Research (CIHR) clinician-scientist (phase 1) training grant, and a Parkinson Society Canada fellowship. J.-P.B., B.B., and J.M. were supported by a CIHR and Ataxia of Charlevoix-Saguenay Foundation Team Grant.
Clinical presentation and early evolution of spastic ataxia of Charlevoix-Saguenay
Version of Record online: 2 AUG 2013
© 2013 Movement Disorder Society
Volume 28, Issue 14, pages 2011–2014, December 2013
How to Cite
Duquette, A., Brais, B., Bouchard, J.-P. and Mathieu, J. (2013), Clinical presentation and early evolution of spastic ataxia of Charlevoix-Saguenay. Mov. Disord., 28: 2011–2014. doi: 10.1002/mds.25604
Relevant conflicts of interest/financial disclosures: Nothing to report.
Full financial disclosures and author roles may be found in the online version of this article.
- Issue online: 9 DEC 2013
- Version of Record online: 2 AUG 2013
- Manuscript Accepted: 29 MAY 2013
- Manuscript Revised: 25 APR 2013
- Manuscript Received: 24 OCT 2012
- spinocerebellar ataxia;
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an increasingly recognized form of spastic ataxia worldwide, but early diagnosis remains a challenge.
We reviewed the initial presentation (n = 40) and early clinical evolution (n = 50) of a large ARSACS cohort that was followed at the Saguenay Neuromuscular clinic.
The average age at presentation was 3.41 ± 1.55 years. Increased deep tendon reflexes were more common than spasticity initially, and the neuropathy only became apparent clinically in the second decade. Despite a homogeneous genetic background, some patients showed no signs of neuropathy or spasticity by the age of 18 years.
At presentation, ARSACS lacks certain features that are considered typical in adults after years of evolution. Considering that ARSACS is probably under-diagnosed, it should be included in the differential diagnosis of early onset ataxias with or without pyramidal features and is worthwhile to consider in older patients, even when some features are absent. © 2013 International Parkinson and Movement Disorder Society