Huntington's disease-like 2 can present as chorea-acanthocytosis

Ruth H. Walker, A. Rasmussen, D. Rudnicki, S. E. Holmes, E. Alonso, T. Matsuura, T. Ashizawa, B. Davidoff-Feldman, R. L. Margolis

Research output: Contribution to journalArticle

Abstract

Three patients from a previously described family with autosomal dominant chorea-acanthocytosis were found to have the CTG trinucleotide repeat expansion mutation of thejunctophilin-3 gene associated with Huntington's disease-like 2 (HDL2). One of six previously identified patients with HDL2 had acanthocytosis on peripheral blood smear, suggesting that HDL2 should be considered in the differential of chorea-acanthocytosis.

Original languageEnglish (US)
Pages (from-to)1002-1004
Number of pages3
JournalNeurology
Volume61
Issue number7
DOIs
StatePublished - Oct 14 2003

ASJC Scopus subject areas

  • Clinical Neurology

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    Walker, R. H., Rasmussen, A., Rudnicki, D., Holmes, S. E., Alonso, E., Matsuura, T., Ashizawa, T., Davidoff-Feldman, B., & Margolis, R. L. (2003). Huntington's disease-like 2 can present as chorea-acanthocytosis. Neurology, 61(7), 1002-1004. https://doi.org/10.1212/01.WNL.0000085866.68470.6D