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Neurology. 2003 Oct 14;61(7):1002-4.

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

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  • 1Department of Neurology, Veterans Affairs Medical Center, Bronx, NY, USA.


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 chorea-acanthocytosis.

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