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: Antoine Duquette, Bernard Brais, Jean-Pierre Bouchard, Jean Mathieu
• Journal: Movement disorders : official journal of the Movement Disorder Society (Mov Disord) Vol. 28 Issue 14 Pg. 2011-4 (Dec 2013) ISSN: 1531-8257 [Electronic] United States
• PMID: 23913799 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: © 2013 Movement Disorder Society.

Topics

• Adolescent
• Disease Progression
• Female
• Humans
• Male
• Muscle Spasticity (diagnosis, physiopathology)
• Spinocerebellar Ataxias (congenital, diagnosis, physiopathology)