Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Spinocerebellar ataxia 17 (SCA17) and Huntington's disease-like 4 (HDL4).

Cerebellum (London, England) - 1 Jan 2008

Stevanin Giovanni, Brice Alexis

Abstract excerpt

Spinocerebellar ataxia 17 (SCA17) or Huntington's disease-like-4 is a neurodegenerative disease caused by the expansion above 44 units of a CAG/CAA repeat in the coding region of the TATA box binding protein (TBP) gene leading to an abnormal expansion of a polyglutamine stretch in the corresponding protein. Alleles with 43 and 44 repeats have been identified in sporadic cases and their pathogenicity remains...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Chromosomal Instability
Share to Creutzfeldt-Jakob Syndrome
Share to Huntington Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Parkinson Disease

Share to Schizophrenia

Share to Spinocerebellar Ataxias

Share to TATA-Box Binding Protein

Share to Trinucleotide Repeat Expansion

Source

Identifiers

PMID: 18418687
DOI: 10.1007/s12311-008-0016-1

Genes

TBP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Spinocerebellar ataxia 17 (SCA17) and Huntington's disease-like 4 (HDL4).PMID 18418687Read ↗

Spinocerebellar ataxia type 17 is caused by mutations in the TATA-box binding protein.Semantic proximity Read ↗

Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17Semantic proximity Read ↗

Mutation analysis of the TATA box-binding protein (TBP) gene in Russian patients with spinocerebellar ataxia and Huntington disease-like phenotype.Semantic proximity Read ↗

SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein.Semantic proximity Read ↗

The SCA17 phenotype can include features of MSA-C, PSP and cognitive impairment.Semantic proximity Read ↗

Severe and rapidly progressing cognitive phenotype in a SCA17-family with only marginally expanded CAG/CAA repeats in the TATA-box binding protein gene: a case report.Semantic proximity Read ↗

[Spinocerebellar ataxia 17: full phenotype in a 42 CAG/CAA-repeats carrier].Semantic proximity Read ↗

TATA-binding protein in neurodegenerative disease.Semantic proximity Read ↗

Behavioral disorder, dementia, ataxia, and rigidity in a large family with TATA box-binding protein mutation.Semantic proximity Read ↗

Small-expanded allele spinocerebellar ataxia 17: imaging and phenotypic variability.Semantic proximity Read ↗

SCA17 repeat expansion: mildly expanded CAG/CAA repeat alleles in neurological disorders and the functional implications.Semantic proximity Read ↗

Spinocerebellar ataxia type 17 (SCA17): oculomotor phenotype and clinical characterization of 15 Italian patients.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.