| pubmed-article:21496572 | pubmed:abstractText | Huntington's disease (HD) is caused by a triplet repeat expansion in the IT15 gene on chromosome 4 encoding huntingtin. Gene mutations are found in about 99% of cases, with symptoms and signs suggestive of HD. This implies the existence of other causes of this syndrome, and, in recent years, several other distinct genetic disorders have been identified that can present with a clinical picture indistinguishable from HD, termed HD-like (HDL) syndromes. So far, four genes associated with HDL syndromes have been identified, including the prion protein gene (HDL1), the junctophilin 3 gene (HDL2) and, the gene encoding the TATA box-binding protein (HDL4). In addition, a single family with a recessively inherited HD phenocopy, the exact genetic basis of which is currently unknown (HDL3), has been described. These disorders, however, account for only a small proportion of HDL cases, and the list of HDL genes and conditions is set to grow. In this article, we review the currently identified HD phenocopy disorders and discuss clinical clues to facilitate further investigations. We will concentrate on the four so-called HDL syndromes mentioned above. Other genetic choreatic syndromes such as dentatorubral-pallidoluysian atrophy, neuroferritinopathy, pantothenate kinase-associated neurodegeneration, and chorea-acanthocytosis are also briefly discussed. | lld:pubmed |
