Pt4 – National Ataxia Foundation

National Ataxia Foundation

Identification

Causal gene(s): SACS
Repeat size or mutation: c.6166_6167delTT/c.6166_6167delTT
Cell type: Fibroblast

Donor Information

Donor gender: male
Age at disease onset (years): 6
Age at collection (years): 33

Source & Publications

Originating lab / institution: IRCCS Stella Maris / Federico II University
Links to publications or public resources: Powerhouse failure and oxidative damage in autosomal recessive spastic ataxia of Charlevoix-Saguenay - PubMed

Thickening of peripapillar retinal fibers for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay - PubMed

National Ataxia Foundation

Twenty Twenty-Five

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