| H01243 | |
| H番号 | H01243 |
| 名称 | Huntington disease-like syndrome |
| 概要 | 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). |
| カテゴリ | 神経変性疾患 |
| ネットワーク | - |
| 病因遺伝子 | (HDL1) PRNP [HSA:5621] [KO:K05634] (HDL2) JPH3 [HSA:57338] [KO:K19530] (HDL4) TBP [HSA:6908] [KO:K03120] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 8A01.11 MeSH: C580174 OMIM: 603218 606438 607136 |
| 文献 | PMID:17805246 著者 Schneider SA, Walker RH, Bhatia KP タイトル The Huntington's disease-like syndromes: what to consider in patients with a negative Huntington's disease gene test. 雑誌 Nat Clin Pract Neurol 3:517-25 (2007) DOI:10.1038/ncpneuro0606 PMID:18181206 著者 Wild EJ, Mudanohwo EE, Sweeney MG, Schneider SA, Beck J, Bhatia KP, Rossor MN, Davis MB, Tabrizi SJ タイトル Huntington's disease phenocopies are clinically and genetically heterogeneous. 雑誌 Mov Disord 23:716-20 (2008) DOI:10.1002/mds.21915 PMID:10581230 (HDL1) 著者 Laplanche JL, Hachimi KH, Durieux I, Thuillet P, Defebvre L, Delasnerie-Laupretre N, Peoc'h K, Foncin JF, Destee A タイトル Prominent psychiatric features and early onset in an inherited prion disease with a new insertional mutation in the prion protein gene. 雑誌 Brain 122 ( Pt 12):2375-86 (1999) DOI:10.1093/brain/122.12.2375 PMID:11694876 (HDL2) 著者 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 タイトル A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2. 雑誌 Nat Genet 29:377-8 (2001) DOI:10.1038/ng760 PMID:12805114 (HDL4) 著者 Stevanin G, Fujigasaki H, Lebre AS, Camuzat A, Jeannequin C, Dode C, Takahashi J, San C, Bellance R, Brice A, Durr A タイトル Huntington's disease-like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genes. 雑誌 Brain 126:1599-603 (2003) DOI:10.1093/brain/awg155 |