Huntington's disease--like 2 can present as chorea-acanthocytosis.
case_series · Level IV
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- Record sourced from PubMed, PMID 14557581.
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Abstract
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.
Medical subject headings
- Acanthocytes
- Chorea
- Membrane Proteins
- Trinucleotide Repeat Expansion