MeSH Browser

MeSH Supplementary: Spinocerebellar Ataxia 17
Unique ID: C564616
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C564616
Entry Term(s): HDL4 Huntington Disease-Like 4; Huntington Disease-Like 4; SCA17 Spinocerebellar Ataxia 17
Registry Number: 0
Heading Mapped to: *Spinocerebellar Ataxias
Frequency: 43
Note: An autosomal dominant spinocerebellar ataxia that is caused by expanison of TRINUCLEOTIDE REPEATS in the TATA-BOX BINDING PROTEIN (TBP) gene. It is phenotypically similar to HUNTINGTON DISEASE; affected individuals may experience ataxia, pyramidal and extrapyramidal signs, cognitive impairments, psychosis, and seizures. OMIM: 607136
Date of Entry: 2012/11/05
Revision Date: 2019/06/24

Concept UI: M0564916
Registry Number: 0
Terms: Spinocerebellar Ataxia 17 Preferred Term
Term UI T805239
Date11/15/2011
LexicalTag NON
ThesaurusID OMIM (2013); SCA17 Spinocerebellar Ataxia 17
Term UI T000961964
Date06/24/2019
LexicalTag NON
ThesaurusID NLM (2019); Huntington Disease-Like 4
Term UI T805242
Date11/15/2011
LexicalTag NON
ThesaurusID OMIM (2013); HDL4 Huntington Disease-Like 4
Term UI T000961966
Date06/24/2019
LexicalTag NON
ThesaurusID NLM (2019)

Spinocerebellar Ataxia 17 MeSH Supplementary Concept Data 2023