Clinical presentation and early evolution of spastic ataxia of Charlevoix-Saguenay


  • Antoine Duquette MD, MSc, FRCP(C),

    Corresponding author
    1. 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
    • Correspondence to: Dr. Antoine Duquette, Unité des troubles du mouvement André-Barbeau, Service de Neurologie, Département de Médecine, Centre Hospitalier de l'Université de Montréal, 1560 rue Sherbrooke Est GR-1185, Montréal, QC, Canada, H2L 4M1;

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  • Bernard Brais MD, MPhil, PhD, FRCP(C),

    1. Departments of Neurology and Neurosurgery and Human Genetics, Montreal Neurological Hospital, Faculty of Medicine, McGill University, Montréal, Quebec, Canada
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  • Jean-Pierre Bouchard MD, FRCP(C),

    1. Hôpital Enfant-Jésus, CHU de Québec et Département des Sciences Neurologiques, Faculté de Médecine de l'Université Laval, Québec, Quebec, Canada
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  • Jean Mathieu MD, MSc, FRCP(C)

    1. Complexe Hospitalier de la Sagamie et Faculté de Médecine et des Sciences de la Santé de l'Université de Sherbrooke, Jonquière, Quebec, Canada
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  • 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.

  • 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.



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