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 language||English (US)|
|Number of pages||3|
|State||Published - Oct 14 2003|
ASJC Scopus subject areas
- Clinical Neurology