2018 Articles
Chorea–Acanthocytosis and the Huntington Disease Allele in an Irish Family
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.
Files
-
604-11628-1-PB.pdf application/pdf 127 KB Download File
Also Published In
- 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