Sacsin-related ataxia (ARSACS): Expanding the genotype upstream from the gigantic exon
- 11 April 2006
- journal article
- Published by Wolters Kluwer Health in Neurology
- Vol. 66 (7) , 1103-1104
- https://doi.org/10.1212/01.wnl.0000204300.94261.ea
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.Keywords
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