KEGG DISEASE: Huntington disease-like syndrome

KEGG

DISEASE: Huntington disease-like syndrome

Entry

H01243                      Disease

Name

Huntington disease-like syndrome

Supergrp

Core neuroacanthocytosis syndromes [DS:H00832]

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

Brite

Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
  Movement disorders
   8A01  Choreiform disorders
    H01243  Huntington disease-like syndrome

Pathway

Basal transcription factors

Gene

(HDL1) PRNP [HSA:5621] [KO:K05634]
(HDL2) JPH3 [HSA:57338] [KO:K19530]
(HDL4) TBP [HSA:6908] [KO:K03120]

Other DBs

ICD-11:

MeSH:

OMIM:

603218 606438 607136

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

LinkDB

» Japanese version

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