Autosomal recessive cerebellar ataxia due to stub1 deficiency

An autosomal recessive condition caused by mutation(s) in the SACS gene, encoding sacsin. It is characterized by early onset cerebellar ataxia, pyramidal tract signs and peripheral neuropathy.

Disease Alternative Name

spax6
spastic ataxia 6
autosomal recessive spastic ataxia of charlevoix-saguenay
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