| H01243 | |
| H number | H01243 |
| Name | Huntington disease-like syndrome |
| Description | Huntington 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 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). |
| Category | Neurodegenerative disease |
| Network | - |
| Gene | (HDL1) PRNP [HSA:5621] [KO:K05634] (HDL2) JPH3 [HSA:57338] [KO:K19530] (HDL4) TBP [HSA:6908] [KO:K03120] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 8A01.11 MeSH: C580174 OMIM: 603218 606438 607136 |
| Reference | PMID:17805246 AUTHORS Schneider SA, Walker RH, Bhatia KP TITLE The Huntington's disease-like syndromes: what to consider in patients with a negative Huntington's disease gene test. JOURNAL Nat Clin Pract Neurol 3:517-25 (2007) DOI:10.1038/ncpneuro0606 PMID:18181206 AUTHORS Wild EJ, Mudanohwo EE, Sweeney MG, Schneider SA, Beck J, Bhatia KP, Rossor MN, Davis MB, Tabrizi SJ TITLE Huntington's disease phenocopies are clinically and genetically heterogeneous. JOURNAL Mov Disord 23:716-20 (2008) DOI:10.1002/mds.21915 PMID:10581230 (HDL1) AUTHORS Laplanche JL, Hachimi KH, Durieux I, Thuillet P, Defebvre L, Delasnerie-Laupretre N, Peoc'h K, Foncin JF, Destee A TITLE Prominent psychiatric features and early onset in an inherited prion disease with a new insertional mutation in the prion protein gene. JOURNAL Brain 122 ( Pt 12):2375-86 (1999) DOI:10.1093/brain/122.12.2375 PMID:11694876 (HDL2) AUTHORS Holmes SE, O'Hearn E, Rosenblatt A, Callahan C, Hwang HS, Ingersoll-Ashworth RG, Fleisher A, Stevanin G, Brice A, Potter NT, Ross CA, Margolis RL TITLE A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2. JOURNAL Nat Genet 29:377-8 (2001) DOI:10.1038/ng760 PMID:12805114 (HDL4) AUTHORS Stevanin G, Fujigasaki H, Lebre AS, Camuzat A, Jeannequin C, Dode C, Takahashi J, San C, Bellance R, Brice A, Durr A TITLE Huntington's disease-like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genes. JOURNAL Brain 126:1599-603 (2003) DOI:10.1093/brain/awg155 |