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

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. © 2013 Movement Disorder Society.