Autosomal recessive spastic ataxia of Charlevoix-Saguenay in Illinois

1 specialist · 1 treatment center for Autosomal recessive spastic ataxia of Charlevoix-Saguenay in Illinois, verified against ClinicalTrials.gov, PubMed, and the NPPES NPI registry.

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), also known as spastic ataxia Charlevoix-Saguenay type or SACS-related ataxia, is a rare inherited neurodegenerative disorder caused by mutations in the SACS gene on chromosome 13q12.12, which encodes the protein sacsin. The disease was first described …

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Specialists are identified from ClinicalTrials.gov principal investigators, PubMed publications, and the NPI registry, then ranked through an automated scoring pipeline.
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