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

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dc.contributor.authorMurphy, Olwen C.
dc.contributor.authorO'Toole, Orna
dc.contributor.authorHand, Collette K.
dc.contributor.authorRyan, Aisling M.
dc.date.accessioned2019-09-04T08:21:53Z
dc.date.available2019-09-04T08:21:53Z
dc.date.issued2018-10-26
dc.description.abstractThe 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.en
dc.description.statusPeer revieweden
dc.description.versionPublished Versionen
dc.format.mimetypeapplication/pdfen
dc.identifier.articleid604
dc.identifier.citationMurphy, 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.433en
dc.identifier.doi10.7916/D8R22J6Men
dc.identifier.doi10.5334/tohm.433en
dc.identifier.eissn2160-8288
dc.identifier.endpage4en
dc.identifier.issn2160-8288
dc.identifier.journaltitleTremor and Other Hyperkinetic Movementsen
dc.identifier.startpage1en
dc.identifier.urihttps://hdl.handle.net/10468/8448
dc.language.isoenen
dc.publisherColumbia University Lettersen
dc.relation.urihttps://doi.org/10.5334/tohm.433
dc.rights© 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.en
dc.rights.urihttps://creativecommons.org/licenses/by-nc-nd/3.0/en
dc.subjectChorea–acanthocytosisen
dc.subjectNeuroacanthocytosisen
dc.subjectHuntington diseaseen
dc.subjectChoreaen
dc.subjectEpilepsyen
dc.titleChorea–acanthocytosis and the Huntington disease allele in an Irish familyen
dc.typeArticle (peer-reviewed)en
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