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Huntington's disease phenocopies are clinically and genetically heterogeneous

Wild, EJ; Mudanohwo, EE; Sweeney, MG; Schneider, SA; Beck, J; Bhatia, KP; Rossor, MN; ... Tabrizi, SJ; + view all (2008) Huntington's disease phenocopies are clinically and genetically heterogeneous. Movement Disorders , 23 (5) 716 - 720. 10.1002/mds.21915. Green open access

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Abstract

Huntington's disease (HD) classically presents with movement disorder, cognitive dysfunction and behavioral problems but is phenotypically variable. One percent of patients with HD-like symptoms lack the causative mutation and are considered HD phenocopies. Genetic diseases known to cause HD phenocopies include HD-like syndromes HDL1, HDL2, and HDL4 (SCA17). HD has phenotypic overlap with dentatorubral-pallidoluysian atrophy, the spinocerebellar ataxias and neuroferritinopathy. Identifying the genetic basis of HD phenocopies is important for diagnosis and may inform the search for HD genetic modifiers. We sought to identify neurogenetic diagnoses in the largest reported cohort of HD phenocopy patients. Two hundred eighty-five patients with syndromes consistent with HD, who were HD expansion-negative, were screened for mutations in PRNP, JPH3, TBP, DRPLA, SCA1, SCA2, SCA3, FTL and FRDA. Genetic diagnoses were made in 8 subjects: we identified 5 cases of HDL4, 1 of HDL1 and 1 of HDL2. One patient had Friedreich's ataxia. There were no cases of DRPLA, SCA1, SCA2, SCA3, or neuroferritinopathy. HD phenocopies are clinically and genetically diverse and a definitive genetic diagnosis is currently possible in only a minority of cases. When undertaken, it should be clinically directed and patients and clinicians should be prepared for the low probability of reaching a genetic diagnosis in this group of patients. (c) 2008 Movement Disorder Society.

Type: Article
Title: Huntington's disease phenocopies are clinically and genetically heterogeneous
Open access status: An open access version is available from UCL Discovery
DOI: 10.1002/mds.21915
Publisher version: http://dx.doi.org/10.1002/mds.21915
Language: English
Additional information: This is the peer reviewed version of the following article: Wild, EJ; Mudanohwo, EE; Sweeney, MG; Schneider, SA; Beck, J; Bhatia, KP; Rossor, MN; Davis, MB; Tabrizi, SJ; (2008) Huntington's disease phenocopies are clinically and genetically heterogeneous. Movement Disorders , 23 (5) 716 - 720, which has been published in final form at http://dx.doi.org/10.1002/mds.21915. This article may be used for non-commercial purposes in accordance With Wiley Terms and Conditions for self-archiving
Keywords: Huntington's disease (HD), phenocopies, SCA17, familial prion disease, HDL1, HDL2, Benign Hereditary Chorea, Trinucleotide Repeat, Cerebellar Atrophy, Gene, Expansion, Mutation, Acanthocytosis, Phenotype, Ferritin
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Clinical and Movement Neurosciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Neurodegenerative Diseases
URI: https://discovery.ucl.ac.uk/id/eprint/143053
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