autosomal recessive spastic ataxia of Charlevoix-Saguenay

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An early-onset spastic ataxia particularly prevalent in the Charlevoix-Saguenay–Lac-Saint-Jean region of Quebec. There is defective sensory nerve conduction, reduced motor nerve velocity, and hypermyelination of retinal neurons. The cause is mutation in the gene encoding sacsin.

Subjects: Medicine and Health.

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