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Novel compound heterozygous mutation in SACS gene leads to a milder autosomal recessive spastic ataxia of Charlevoix-Saguenay, ARSACS, in a Finnish family. 2016
Johanna Palmio, and
Mikko Kärppä, and
Peter Baumann, and
Sini Penttilä, and
Jukka Moilanen, and
Bjarne Udd
Department of Neurology Neuromuscular Research Center Tampere University and University Hospital Tampere Finland.
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.
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