Novel compound heterozygous mutation in SACS gene leads to a milder autosomal recessive spastic ataxia of Charlevoix‐Saguenay, ARSACS, in a Finnish family. Issue 12 (26th October 2016)

• Record Type: Journal Article
• Authors: Palmio, Johanna; Kärppä, Mikko; Baumann, Peter; Penttilä, Sini; Moilanen, Jukka; Udd, Bjarne
• Is Part Of: Clinical case reports. Volume 4:Issue 12(2016)
• Page Start: 1151
• Page End: 1156
• Publication Date: 2016-10-26
• Subjects: Autosomal recessive -- SACS gene -- spastic ataxia; Medicine -- Periodicals; 616.09
• DOI: 10.1002/ccr3.722
• Languages: English
• ISSNs: 2050-0904

Abstract

Key Clinical Message: Autosomal recessive spastic ataxia of Charlevoix‐Saguenay is a rare disorder outside Quebec causing childhood‐onset cerebellar ataxia, peripheral neuropathy, and pyramidal tract signs. A Finnish family with milder form of ARSACS was found to harbor three mutations, p.E1100K, p.N1489S, and p.M1359T, in SACS gene. The mutations segregated with the disease. Abstract : Autosomal recessive spastic ataxia of Charlevoix‐Saguenay is a rare disorder outside Quebec causing childhood‐onset cerebellar ataxia, peripheral neuropathy, and pyramidal tract signs. A Finnish family with milder form of ARSACS was found to harbor three mutations, p.E1100K, p.N1489S, and p.M1359T, in SACS gene. The mutations segregated with the disease.