|
Ataxia, Spinocerebellar
|
0.100 |
Biomarker
|
disease |
BEFREE |
The nine known polyQ disease include Huntington's disease (HD), dentatorubral-pallidoluysian atrophy (DRPLA), spinal bulbar muscular atrophy (SBMA), and six spinocerebellar ataxias (SCA1, SCA2, SCA3, SCA6, SCA7, and SCA17).
|
31669734 |
2020 |
|
Ataxia, Spinocerebellar
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Spinocerebellar ataxia (SCA) type 17 is an autosomal dominant ataxia caused by expanded polyglutamine (polyQ) tract in the TATA-box binding protein (TBP).
|
30760647 |
2019 |
|
Ataxia, Spinocerebellar
|
0.100 |
Biomarker
|
disease |
BEFREE |
Nine hereditary neurodegenerative diseases are known as polyglutamine diseases, including Huntington disease, 6 spinocerebellar ataxias (SCAs) (SCA1, SCA2, SCA3, SCA6, SCA7, and SCA17), dentatorubral-pallidoluysion atrophy, and spinal bulbar muscular atrophy.
|
30933216 |
2019 |
|
Ataxia, Spinocerebellar
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Subsequently, CAG/CAA repeat expansions in the TBP gene were identified in families with spinocerebellar ataxia (SCA), establishing this repeat expansion as the underlying mutation in SCA type 17 (SCA17).
|
29427105 |
2018 |
|
Ataxia, Spinocerebellar
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
These genes were spinocerebellar ataxia (SCA)-1 (ATXN1), SCA-2 (ATXN2), SCA-3 (ATXN3), SCA-6 (CACNA1A), SCA-7 (ATXN7), SCA-8 (ATXN8OS), SCA-10 (ATXN10), SCA-12 (PPP2R2B), SCA-17 (TBP) and dentatorubral-pallidolysian atrophy (DRPLA) (ATN1).
|
26077168 |
2015 |
|
Ataxia, Spinocerebellar
|
0.100 |
Biomarker
|
disease |
BEFREE |
Sixteen independent patients with involuntary movements, psychiatric disturbances and ataxia not having a HTT mutation were searched for loci PRNP (prion protein, HDL1), JPH3 (HDL2), ATN1 (dentatorubral-pallidoluysian atrophy), ATX2 (spinocerebellar ataxia 2) ATXN3 (spinocerebellar ataxia 3), and TBP (spinocerebellar ataxia 17=HDL4).
|
22971727 |
2013 |
|
Ataxia, Spinocerebellar
|
0.100 |
Biomarker
|
disease |
BEFREE |
Genetic diseases that can present as HD phenocopies include HD-like syndromes such as HDL1, HDL2 and HDL4 (SCA17), some spinocerebellar ataxias (SCAs) and dentatorubral-pallidoluysian atrophy (DRPLA).
|
22297462 |
2012 |
|
Ataxia, Spinocerebellar
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We screened a cohort of 181 patients with features of primary progressive ataxia and chorea for spinocerebellar ataxias 17 (SCA17) mutation after excluding other known SCAs, Huntington's disease (HD), dentatorubral-pallidoluysian atrophy (DRPLA), and non-genetic causes.
|
21108634 |
2011 |
|
Ataxia, Spinocerebellar
|
0.100 |
Biomarker
|
disease |
BEFREE |
Patients with progressive cerebellar dysfunction of autosomal dominant transmission underwent a clinical examination protocol and genetic testing for spinocerebellar ataxia (SCA)1 to Machado-Joseph disease (MJD)/SCA3, SCA6, SCA7, SCA10, SCA12, SCA17 and dentatorubral-pallidoluysian atrophy (DRPLA).
|
19659750 |
2010 |
|
Ataxia, Spinocerebellar
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutation analysis of the TATA box-binding protein (TBP) gene in Chinese Han patients with spinocerebellar ataxia.
|
19581089 |
2009 |
|
Ataxia, Spinocerebellar
|
0.100 |
GeneticVariation
|
disease |
LHGDN |
Eye movement abnormalities in spinocerebellar ataxia type 17 (SCA17).
|
17846415 |
2007 |
|
Ataxia, Spinocerebellar
|
0.100 |
Biomarker
|
disease |
LHGDN |
Case of spinocerebellar ataxia type 17 (SCA17) associated with only 41 repeats of the TATA-binding protein (TBP) gene.
|
17149738 |
2007 |
|
Ataxia, Spinocerebellar
|
0.100 |
Biomarker
|
disease |
LHGDN |
Characterization of nigrostriatal dysfunction in spinocerebellar ataxia 17.
|
16532453 |
2006 |
|
Ataxia, Spinocerebellar
|
0.100 |
GeneticVariation
|
disease |
LHGDN |
Spinocerebellar ataxia type 17 in the Yugoslav population.
|
14763955 |
2004 |
|
Ataxia, Spinocerebellar
|
0.100 |
Biomarker
|
disease |
LHGDN |
Focal dystonia as a presenting sign of spinocerebellar ataxia 17.
|
14978680 |
2004 |
|
Ataxia, Spinocerebellar
|
0.100 |
GeneticVariation
|
disease |
LHGDN |
Genetic testing in spinocerebellar ataxia in Taiwan: expansions of trinucleotide repeats in SCA8 and SCA17 are associated with typical Parkinson's disease.
|
14756671 |
2004 |
|
Ataxia, Spinocerebellar
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Genetic testing in spinocerebellar ataxia in Taiwan: expansions of trinucleotide repeats in SCA8 and SCA17 are associated with typical Parkinson's disease.
|
14756671 |
2004 |
|
Ataxia, Spinocerebellar
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Recently, an inherited spinocerebellar ataxia (SCA17) has been attributed to polyglutamine coding expansions within the gene coding for human TATA-box binding protein (TBP).
|
12758065 |
2003 |
|
Ataxia, Spinocerebellar
|
0.100 |
Biomarker
|
disease |
BEFREE |
We identified a novel spinocerebellar ataxia (SCA) form in four Japanese pedigrees which is caused by an abnormal CAG expansion in the TATA-binding protein (TBP) gene, a general transcription initiation factor.
|
11448935 |
2001 |
|
Ataxia, Spinocerebellar
|
0.100 |
Biomarker
|
disease |
BEFREE |
In this immunohistochemical study, we showed recruitment of ataxin-2, ataxin-3 and TATA box binding protein (TBP) into NIIs of the pontine neurons of spinocerebellar ataxia type (SCA) 1, SCA2, SCA3 and dentatorubral-pallidoluysian atrophy brains.
|
11563629 |
2001 |