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The Huntington's disease-like syndromes: what to consider in patients with a negative Huntington's disease gene test

Schneider, SA; Walker, RH; Bhatia, KP; (2007) The Huntington's disease-like syndromes: what to consider in patients with a negative Huntington's disease gene test. NAT CLIN PRACT NEURO , 3 (9) 517 - 525. 10.1038/ncpneuro0606.

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Abstract

Huntington's disease (HD), which is caused by a triplet-repeat expansion in the IT15 gene (also known as huntingtin or HD), accounts for about 90% of cases of chorea of genetic etiology. In recent years, several other distinct genetic disorders have been identified that can present with a clinical picture indistinguishable from that of HD. These disorders are termed Huntington's disease-like (HDL) syndromes. So far, four such conditions have been recognized, namely disorders attributable to mutations in the prion protein gene (HDLI), the junctophilin 3 gene (HDL2), and the gene encoding the TATA box-binding protein (HDL4/SCAI 7), and a recessively inherited HD phenocopy in a single family (HDL3), the genetic basis of which is currently poorly understood. These disorders, however, account for only a small proportion of cases with the HD phenotype but a negative genetic test for HD, and the list of HDL genes and conditions is set to grow. In this article, we review the most important HD phenocopy disorders identified to date and discuss the clinical clues that guide further investigation. We will concentrate on the four so-called HDL syndromes mentioned above, as well as other genetic disorders such as dentatorubralpallidoluysian atrophy, neuroferritinopathy, pantothenate-kinase-associated neurodegeneration and chorea-acanthocytosis.

Type: Article
Title: The Huntington's disease-like syndromes: what to consider in patients with a negative Huntington's disease gene test
DOI: 10.1038/ncpneuro0606
Keywords: Huntington's disease, Huntington's disease-like syndromes, junctophilin 3, prion disease, spinocerebellar ataxia type 17, DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY, HALLERVORDEN-SPATZ-SYNDROME, TATA-BINDING PROTEIN, KINASE-ASSOCIATED NEURODEGENERATION, TRINUCLEOTIDE REPEAT EXPANSIONS, DOMINANT SPINOCEREBELLAR ATAXIA, CHOREA-ACANTHOCYTOSIS, CLINICAL-FEATURES, BASAL GANGLIA, DENTATORUBROPALLIDOLUYSIAN ATROPHY
UCL classification: UCL > Provost and Vice Provost Offices
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
URI: http://discovery.ucl.ac.uk/id/eprint/122973
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