Grieco G S, Malandrini A, Comanducci G, Leuzzi V, Valoppi M, Tessa A, Palmeri S, Benedetti L, Pierallini A, Gambelli S, Federico A, Pierelli F, Bertini E, Casali C, Santorelli F M
Molecular Neurogenetics, IRCCS-C Mondino, Center of Experimental Neurobiology Mondino-Tor Vergata-S. Lucia, Rome, Italy.
Neurology. 2004 Jan 13;62(1):103-6. 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.
常染色体隐性遗传性沙勒沃伊-萨格奈痉挛性共济失调（ARSACS）是一种早发性家族性疾病，眼底有明显的有髓神经纤维。ARSACS在魁北克的沙勒沃伊-萨格奈地区很常见，但在其他地方很少见。编码功能未知的蛋白质萨克斯蛋白的SACS基因突变与ARSACS有关。作者在两名意大利患者中发现了三个新的SACS突变，其表型与魁北克病例非常匹配，但没有视网膜条纹。
