ataxia of Charlevoix-Saguenay

ataxia of Charlevoix-Saguenay

an autosomal recessive, slowly progressive spastic ataxia of childhood onset, due to a gene mutation on chromosome 13.
[Saguenay-Lac-St. Jean and Charlevoix, isolated regions in northeastern Quebec to which the gene pool of the disease is limited]
References in periodicals archive ?
5 Mb and including 7 genes: SGCG, SACS [spastic ataxia of Charlevoix-Saguenay (sacsin)], TNFRSF19 (tumor necrosis factor receptor superfamily, member 19), MIPEP (mitochondrial intermediate peptidase), PCOTH, (prostate collagen triple helix protein) [11]; SPATA13 (spermatogenesis associated 13), and C1QTNF9 (C1q and tumor necrosis factor related protein 9).
Interestingly, 1 of these alleles corresponded to a previously reported CNV (27,28), which was also detected in other samples analyzed in this study together with SACS point mutations, producing autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) (29, 30, 35).
Pseudodominant inheritance of spastic ataxia of Charlevoix-Saguenay.
A novel genomic disorder: a deletion of the SACS gene leading to spastic ataxia of Charlevoix-Saguenay.
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