Chorea–acanthocytosis and the Huntington disease allele in an Irish family
Murphy, Olwen C.
Hand, Collette K.
Ryan, Aisling M.
Columbia University Letters
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.
Chorea–acanthocytosis , Neuroacanthocytosis , Huntington disease , Chorea , Epilepsy
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
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