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 journalArticlepeer-review

79 Scopus citations


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
Issue number7
StatePublished - Oct 14 2003

ASJC Scopus subject areas

  • Clinical Neurology


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