Chorea–acanthocytosis and the Huntington disease allele in an Irish family
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Date
2018-10-26
Authors
Murphy, Olwen C.
O'Toole, Orna
Hand, Collette K.
Ryan, Aisling M.
Journal Title
Journal ISSN
Volume Title
Publisher
Columbia University Letters
Published Version
Abstract
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).1 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.
Description
Keywords
Chorea–acanthocytosis , Neuroacanthocytosis , Huntington disease , Chorea , Epilepsy
Citation
Murphy, O.C., O’Toole, O., Hand, C.K. and Ryan, A.M. (2018) ‘Chorea–acanthocytosis and the Huntington disease allele in an Irish family’, Tremor and Other Hyperkinetic Movements, 8, 604 (4 pp). https://doi.org/10.5334/tohm.433