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. 2003 Dec 9;61(11):1614-6.
doi: 10.1212/01.wnl.0000096172.26601.02.

Mutation in the CHAC gene in a family of autosomal dominant chorea-acanthocytosis

S Saiki  1 , K Sakai, Y Kitagawa, M Saiki, S Kataoka, G Hirose
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Mutation in the CHAC gene in a family of autosomal dominant chorea-acanthocytosis

S Saiki et al. Neurology. .

Erratum in

  • Neurology. 2011 Aug 16;77(7):701

Abstract

Although mutations in the CHAC gene have been identified in autosomal recessive chorea-acanthocytosis (AR-ChAc), the molecular basis of autosomal dominant ChAc (AD-ChAc) remains to be determined. The authors investigated abnormalities in the CHAC gene in an AD-ChAc family with mRNA and sequencing analyses of mRNA and genomic DNA. A novel single heterozygous mutation in the last nucleotide of exon 57 of the CHAC gene, which could cause skipping of the exon, was detected in affected siblings.

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