KEGG   DISEASE: Huntington disease-like syndrome
エントリ  
H01243                                                             
名称    
Huntington disease-like syndrome
  上位グループ
中核群神経有棘赤血球症 [DS:H00832]
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
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 08 神経系の疾患
  運動障害
   8A01  舞踏病様障害
    H01243  Huntington disease-like syndrome
パスウェイ 
hsa03022  Basal transcription factors
病因遺伝子 
(HDL1) PRNP [HSA:5621] [KO:K05634]
(HDL2) JPH3 [HSA:57338] [KO:K19530]
(HDL4) TBP [HSA:6908] [KO:K03120]
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
文献    
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
文献    
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
文献    
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
文献    
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
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