Peer-Reviewed Journal Details
Mandatory Fields
Murphy, O. C.,O'Toole, O.,Hand, C. K.,Ryan, A. M.
2018
October
Tremor And Other Hyperkinetic Movements (New York, N.Y.)
Chorea-Acanthocytosis and the Huntington Disease Allele in an Irish Family
Published
Optional Fields
8
604
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.
2160-8288
10.7916/D8R22J6M
Grant Details