Chorea–acanthocytosis and the Huntington disease allele in an Irish family

cbnd
Thumbnail Image
Files
604-11628-1-PB.pdf(438.11 KB)
Published version
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
10.7916/D8R22J6M
10.5334/tohm.433
Research Projects
Organizational Units
Journal Issue
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
Link to publisher’s version
https://doi.org/10.5334/tohm.433
URI
https://hdl.handle.net/10468/8448
Collections
Anatomy and Neuroscience - Journal Articles
Pathology - Journal Articles
Copyright
© 2018 Murphy et al. This is an open-access article distributed under the terms of the Creative Commons Attribution–Noncommercial–No Derivatives License, which permits the user to copy, distribute, and transmit the work provided that the original authors and source are credited; that no commercial use is made of the work; and that the work is not altered or transformed.