Article
Huntington's disease--like 2 can present as chorea-acanthocytosis.
Neurology - 14 Oct 2003
Walker R H, Rasmussen A, Rudnicki D, Holmes S E, Alonso E, Matsuura T, Ashizawa T, Davidoff-Feldman B, Margolis R L
Abstract excerpt
Three patients from a previously described family with autosomal dominant chorea-acanthocytosis were found to have the CTG trinucleotide repeat expansion mutation of the junctophilin-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...
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