Sacsin-related ataxia (ARSACS): expanding the genotype upstream from the gigantic exon.
case_report · Level V
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- Record sourced from PubMed, PMID 16606928.
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Abstract
The authors describe a Japanese autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) patient with a compound heterozygous mutation (32627-32636delACACTGTTAC and 31760delT) in a new exon of the SACS gene. The new exons upstream of the gigantic one should be analyzed when a case is clinically compatible with ARSACS, even without any mutation in the gigantic exon.
Medical subject headings
- Ataxia
- Heat-Shock Proteins