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Chorea–Acanthocytosis and the Huntington Disease Allele in an Irish Family

Murphy, Olwen C.; O’Toole, Orna; Hand, Collette K.; Ryan, Aisling M.

The presence of peripheral blood film acanthocytes can help narrow the differential diagnosis of a familial choreiform disorder. Acanthocytosis is associated with chorea–acanthocytosis (ChAc), McLeod syndrome, pantothenate kinase-associated neurodegeneration (PKAN), and Huntington’s disease-like 2 (HDL-2). Huntington disease (HD) can present at a similar age with a similar phenotype, but without acanthocytosis. We report the cases of three adult siblings with genetically confirmed ChAc, and discuss the unusual finding of a co-existing abnormal HD allele (CAG repeat expansion in the range of reduced penetrance) in two of these siblings.

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Title
Tremor and Other Hyperkinetic Movements
DOI
https://doi.org/10.7916/D8R22J6M

More About This Work

Academic Units
Center for Parkinson's Disease and Other Movement Disorders
Published Here
February 19, 2019
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