Phenotypic Features and Genetic Findings in Sacsin-Related Autosomal Recessive Ataxia in Tunisia

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Abstract
AUTOSOMAL RECESSIVE spastic ataxia of Charlevoix-Saguenay (ARSACS) was first described in the area of Saguenay-Lac-Saint-Jean, Quebec, Canada, where it appeared to be a homogeneous clinical entity.1 More than 200 families comprising 320 patients have been identified in this area.2 Clinically, it is associated with a progressive spastic paraplegia with cerebellar ataxia starting around the walking age (12-18 months), brisk tendon reflexes, and late occurrence of deep sensory disturbances and distal amyotrophy. Fundi show characteristic retinal myelinated fiber thickening. Patients become wheelchair bound at around 41 years of age.1,2 The gene responsible for ARSACS has been mapped to chromosome 13q11-12,3 and it is identified as encoding a new protein called sacsin.4 Outside of Quebec, only 1 family, from Tunisia, has previously been found demonstrating linkage to this locus; 9 patients were identified in this family.5 The objective of this study was to describe the clinical signs, neurophysiological and nerve biopsy findings, and mutation analysis in 4 new Tunisian families comprising 18 patients.