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摘要: We read with interest the article by Walker et al [1] who report a pedigree of autosomal dominant chorea-acanthocytosis (AD-ChAc) with an expansion of the CTG repeat within junctophilin-3 (JPH3) and without CHAC mutation. Of six patients in other pedigrees, one with Huntington's disease-like 2 (HDL2) with peripheral acanthocytosis is also presented.We previously reported a Japanese AD-ChAc pedigree having a frame-shift mutation in the CHAC gene.[2] Although the clinical phenotype of the kindred reported by Walker et al does not completely agree with ours, we undertook genetic analysis for the detection of a CTG/CAG expansion within JPH3 in our pedigree.