title: Clinical presentation and early evolution of spastic ataxia of Charlevoix-Saguenay.
abstract: BACKGROUND
  Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an increasingly recognized form of spastic ataxia worldwide, but early diagnosis remains a challenge.
  
  
  METHODS
  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.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Unité des Troubles du Mouvement André-Barbeau, Services de Neurologie et de Médecine Génique, Département de Médecine, Faculté de Médecine et Centre Hospitalier de l'Université de Montréal, Montréal, Quebec, Canada.
authors.forename: Antoine
authors.initials: A
authors.lastname: Duquette
authors.forename: Bernard
authors.initials: B
authors.lastname: Brais
authors.forename: Jean-Pierre
authors.initials: JP
authors.lastname: Bouchard
authors.forename: Jean
authors.initials: J
authors.lastname: Mathieu
mesh_terms: D000293:Adolescent; D018450:Disease Progression; D005260:Female; D006801:Humans; D008297:Male; D009128:Muscle Spasticity / Q000175:diagnosis* / Q000503:physiopathology*; D020754:Spinocerebellar Ataxias / Q000151:congenital* / Q000175:diagnosis / Q000503:physiopathology
keywords: ARSACS; French-Canadian; neuropathy; spasticity; spinocerebellar ataxia