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 language | English (US) |
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Pages (from-to) | 1002-1004 |
Number of pages | 3 |
Journal | Neurology |
Volume | 61 |
Issue number | 7 |
DOIs | |
State | Published - Oct 14 2003 |
Externally published | Yes |
ASJC Scopus subject areas
- Clinical Neurology