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NEUROLOGY 2003;61:1614-1616
© 2003 American Academy of Neurology
Brief Communications

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

S. Saiki, MD, K. Sakai, MD PhD, Y. Kitagawa, AS, M. Saiki, MD, S. Kataoka, MD PhD and G. Hirose, MD PhD

From the Department of Neurology, Kanazawa Medical University, Ishikawa, Japan.

Address correspondence and reprint requests to Dr. K. Sakai, Department of Neurology, Kanazawa Medical University, 1-1 Daigaku, Uchinada-machi, Kahoku-gun, Ishikawa, 920-0293, Japan; e-mail: ksakai{at}kanazawa-med.ac.jp

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.

Received June 4, 2003. Accepted in final form August 5, 2003.




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