Novel compound heterozygous mutation in SACS gene leads to a milder autosomal recessive spastic ataxia of Charlevoix‐Saguenay, ARSACS, in a Finnish family
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,...
| Main Authors: | , , , , , |
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| Format: | Online |
| Language: | English |
| Published: |
John Wiley and Sons Inc.
2016
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| Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5134137/ |