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

Show simple item record Murphy, Olwen C. O'Toole, Orna Hand, Collette K. Ryan, Aisling M. 2019-09-04T08:21:53Z 2019-09-04T08:21:53Z 2018-10-26
dc.identifier.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.(4pp). DOI:10.7916/D8R22J6M en
dc.identifier.startpage 1 en
dc.identifier.endpage 4 en
dc.identifier.issn 2160-8288
dc.identifier.doi 10.7916/D8R22J6M en
dc.description.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. en
dc.format.mimetype application/pdf en
dc.language.iso en en
dc.publisher Columbia University Letters en
dc.rights © 2018 Murphy et al en
dc.rights.uri en
dc.subject Chorea–acanthocytosis en
dc.subject Neuroacanthocytosis en
dc.subject Huntington disease en
dc.subject Chorea en
dc.subject Epilepsy en
dc.title Chorea–acanthocytosis and the Huntington disease allele in an Irish family en
dc.type Article (peer-reviewed) en
dc.internal.authorcontactother Orna O'Toole, Cork Neuroscience CNS Centre, University College Cork, Cork, Ireland. +353-21-490-3000 Email: en
dc.internal.availability Full text available en
dc.description.version Published Version en
dc.description.status Peer reviewed en
dc.identifier.journaltitle Tremor and Other Hyperkinetic Movements en
dc.internal.IRISemailaddress en
dc.identifier.eissn 2160-8288

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