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- Title
Novel compound heterozygous mutation in SACS gene leads to a milder autosomal recessive spastic ataxia of Charlevoix-Saguenay, ARSACS, in a Finnish family.
- Authors
Palmio, Johanna; Kärppä, Mikko; Baumann, Peter; Penttilä, Sini; Moilanen, Jukka; Udd, Bjarne
- 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.
- Subjects
GENETIC mutation; ATAXIA; SPASTICITY; CEREBELLAR ataxia; TREATMENT of peripheral neuropathy; PYRAMIDAL tract; TREATMENT of neurodegeneration; THERAPEUTICS
- Publication
Clinical Case Reports, 2016, Vol 4, Issue 12, p1151
- ISSN
2050-0904
- Publication type
Article
- DOI
10.1002/ccr3.722