Sacsin-Related Spastic Ataxia Caused by a Novel Missense Mutation p.Arg272His in a Patient from Sicily, Southern Italy.

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disorder characterized by early-onset spastic ataxia, dysarthria, nystagmus, distal muscle wasting, peripheral neuropathy, finger and foot deformities, and hypermyelination of retinal nerve fibers . Brain imaging often reveals cerebellar hemispheres and superior vermis atrophy, spinal cord atrophy, and linear hypointensities of the pons . The gene SACS responsible for the ARSACS was mapped to chromosome 13q11 and consists in one gigantic and eight smaller upstream exons . We report a novel SACS mutation in a Sicilian family with ARSACS phenotype.