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

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

Parkinsonism & related disorders - 1 May 2007

Lin I-Sheng, Wu Ruey-Meei, Lee-Chen Guey-Jen, Shan Din-E, Gwinn-Hardy Katrina

Abstract excerpt

Spinocerebellar ataxia (SCA) 17 is a dominant neurodegenerative disorder characterized by ataxia, cognitive decline, dystonia, and parkinsonism. The disease is caused by unstable cytosine-adenine-guanine (CAG) trinucleotide expansion mutation coding for polyglutamine tracts in the TATA box-binding protein (TBP), a general transcription initiation factor. Herein, we report a SCA17 case with a phenotype not...

Read the complete abstract on PubMed

Topics

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

Share to Cognition Disorders
Share to Magnetic Resonance Imaging

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Multiple System Atrophy

Share to Positron-Emission Tomography

Share to Spinocerebellar Ataxias

Share to TATA Box

Share to TATA-Box Binding Protein

Share to Trinucleotide Repeat Expansion

Source

Identifiers

PMID: 16793320
DOI: 10.1016/j.parkreldis.2006.04.009

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

The SCA17 phenotype can include features of MSA-C, PSP and cognitive impairment.PMID 16793320Read ↗

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

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

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

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

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

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

Early-onset SCA17 with 43 TBP repeats: expanding the phenotype?Semantic proximity Read ↗

A novel transgenic rat model for spinocerebellar ataxia type 17 recapitulates neuropathological changes and supplies in vivo imaging biomarkers.Semantic proximity Read ↗

Dementia, ataxia, extrapyramidal features, and epilepsy: phenotype spectrum in two Italian families with spinocerebellar ataxia type 17.Semantic proximity Read ↗

Spinocerebellar ataxia type 17: extension of phenotype with putaminal rim hyperintensity on magnetic resonance imaging.Semantic proximity Read ↗

Focal dystonia as a presenting sign of spinocerebellar ataxia 17.Semantic proximity Read ↗

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