Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type

• Published in: Neurology Vol. 62; no. 1; pp. 103 - 106
• Main Authors: GRIECO, G. S, MALANDRINI, A, FEDERICO, A, PIERELLI, F, BERTINI, E, CASALI, C, SANTORELLI, F. M, COMANDUCCI, G, LEUZZI, V, VALOPPI, M, TESSA, A, PALMERI, S, BENEDETTI, L, PIERALLINI, A, GAMBELLI, S
• Format: Journal Article
• Language: English
• Published: Hagerstown, MD Lippincott Williams & Wilkins 13-01-2004
• Subjects: Adult; Age of Onset; Ataxia - complications; Ataxia - diagnosis; Ataxia - genetics; Biological and medical sciences; Cerebellum - pathology; Consanguinity; Disease Progression; DNA Mutational Analysis; Genes, Recessive - genetics; Genetic Carrier Screening; Haplotypes; Heat-Shock Proteins - genetics; Homozygote; Humans; Italy; Magnetic Resonance Imaging; Male; Medical sciences; Molecular Sequence Data; Muscle Spasticity - complications; Muscle Spasticity - diagnosis; Muscle Spasticity - genetics; Mutation; Neurology; Phenotype; Ataxia; Nervous system diseases; Mutation; Neurological disorder; Central nervous system disease; Cerebral disorder
• ISSN: 0028-3878; 1526-632X
• DOI: 10.1212/01.WNL.0000104491.66816.77

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an early-onset familial disease with prominent myelinated fibers in the optic fundus. ARSACS is frequent in the Charlevoix-Saguenay region of Quebec but rare elsewhere. Mutations in SACS, encoding sacsin, a protein of unknown function, are associated with ARSACS. The authors identified three new SACS mutations in two Italian patients whose phenotype closely matches that of Quebec cases, but without retinal striation.