Spinocerebellar Ataxia 17

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

Also Known As:

Networked: 21 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Neurodegenerative Diseases (Neurodegenerative Disease)
2.	Ataxia (Dyssynergia)
3.	X-Linked Bulbo-Spinal Atrophy
4.	Dyskinesias (Dyskinesia)
5.	Spinocerebellar Ataxias (Spinocerebellar Ataxia)

Experts

1.	Li, Shihua: 7 articles (01/2018 - 12/2007)
2.	Li, Xiao-Jiang: 7 articles (01/2018 - 12/2007)
3.	Yang, Su: 5 articles (01/2018 - 07/2011)
4.	Cui, Yiting: 2 articles (01/2018 - 01/2017)
5.	Guo, Jifeng: 2 articles (01/2018 - 01/2017)
6.	Tang, Beisha: 2 articles (01/2018 - 01/2017)
7.	Yang, Yang: 2 articles (01/2018 - 01/2017)
8.	Ghosh, Tanay: 2 articles (01/2017 - 06/2012)
9.	Pillai, Beena: 2 articles (01/2017 - 06/2012)
10.	Roshan, Reema: 2 articles (01/2017 - 06/2012)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Spinocerebellar Ataxia 17:

1.	TATA-Box Binding Protein (TATA-Binding Protein)IBA 07/01/2011 - "To investigate the pathogenesis of spinocerebellar ataxia 17, we generated a conditional knock-in mouse model that expresses one copy of the mutant TATA box-binding protein gene, which encodes a 105-glutamine repeat, selectively in neuronal cells at the endogenous level. " 02/01/2004 - "We report on the clinical manifestation of spinocerebellar ataxia 17 (SCA17) in 3 members of a German family, in whom the pathological repeat expansion in the TATA-binding protein gene ranged from 53 to 55 repeats (normal: 29-42). " 01/01/2017 - "Synergistic Toxicity of Polyglutamine-Expanded TATA-Binding Protein in Glia and Neuronal Cells: Therapeutic Implications for Spinocerebellar Ataxia 17." 08/01/2013 - "Spinocerebellar ataxia 17 (SCA17) is one of the 32 subtypes described to date and is secondary to CAG/CAA repeat expansion in the gene coding for the TATA-box binding protein (TBP). " 02/01/2009 - "Expansion of the CAG repeat of the TATA-box binding protein (TBP) gene has been identified as the causative mutations in spinocerebellar ataxia 17 (SCA17). "
2.	tributyl phosphate (TBP)IBA 01/01/2014 - "Spinocerebellar ataxia 17 (SCA 17) is a rare autosomal dominant cerebellar ataxia (ADCA) caused by a CAG/CAA expansion in the TBP gene, reported from a limited number of countries. " 08/01/2013 - "Spinocerebellar ataxia 17 (SCA17) is one of the 32 subtypes described to date and is secondary to CAG/CAA repeat expansion in the gene coding for the TATA-box binding protein (TBP). " 02/01/2009 - "Expansion of the CAG repeat of the TATA-box binding protein (TBP) gene has been identified as the causative mutations in spinocerebellar ataxia 17 (SCA17). " 10/01/2021 - "Spinocerebellar ataxia 17 (SCA17) is a rare genetic cause of adult-onset ataxia caused by an abnormal expansion of the CAG/CAA sequence in the TATA-box Binding Protein (TBP) gene. " 01/01/2013 - "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). "
3.	polyglutamineIBA 01/01/2018 - "Spinocerebellar ataxia 17 (SCA17) belongs to the family of neurodegenerative diseases caused by polyglutamine (polyQ) expansion. " 01/01/2017 - "Synergistic Toxicity of Polyglutamine-Expanded TATA-Binding Protein in Glia and Neuronal Cells: Therapeutic Implications for Spinocerebellar Ataxia 17." 01/01/2016 - "Spinocerebellar ataxia 17 (SCA17) belongs to the family of 9 genetically inherited, late-onset neurodegenerative diseases, which are caused by polyglutamine (polyQ) expansion in different proteins. " 09/01/2011 - "Expanded polyglutamine (polyQ) tract in the human TATA-box-binding protein (hTBP) causes the neurodegenerative disease spinocerebellar ataxia 17 (SCA17). " 01/01/2012 - "Spinocerebellar ataxia 17 (SCA17) is caused by expansion of the polyglutamine (polyQ) tract in human TATA-box binding protein (TBP) that is ubiquitously expressed in both central nervous system and peripheral tissues. "
4.	Proteins (Proteins, Gene)FDA Link 01/01/2016 - "Spinocerebellar ataxia 17 (SCA17) belongs to the family of 9 genetically inherited, late-onset neurodegenerative diseases, which are caused by polyglutamine (polyQ) expansion in different proteins. " 01/01/2016 - "Using these immunoassays, we now report that polyglutamine expansion influences the conformational properties of other polyglutamine disease proteins, exemplified by the androgen receptor (associated with spinal bulbar muscular atrophy) and TATA binding protein (associated with spinocerebellar ataxia 17). " 01/01/2008 - "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. " 09/14/2007 - "Huntington's disease, spinal and bulbar muscular atrophy, and spinocerebellar ataxia 17 (SCA17) are caused by expansions in the polyglutamine (polyQ) repeats in Huntingtin protein (Htt), androgen receptor protein (AR), and TATA-binding protein (TBP), respectively. "
5.	Androgen Receptors (Androgen Receptor)IBA 01/01/2016 - "Using these immunoassays, we now report that polyglutamine expansion influences the conformational properties of other polyglutamine disease proteins, exemplified by the androgen receptor (associated with spinal bulbar muscular atrophy) and TATA binding protein (associated with spinocerebellar ataxia 17). " 09/14/2007 - "Huntington's disease, spinal and bulbar muscular atrophy, and spinocerebellar ataxia 17 (SCA17) are caused by expansions in the polyglutamine (polyQ) repeats in Huntingtin protein (Htt), androgen receptor protein (AR), and TATA-binding protein (TBP), respectively. "
6.	Protein AggregatesIBA 01/01/2017 - "Brain sections of patients with spinocerebellar ataxia 17 (SCA17), a type of neurodegenerative disease, have been reported to contain protein aggregates of TATA-binding protein (TBP). "
7.	TamoxifenFDA LinkGeneric 01/22/2014 - "We established spinocerebellar ataxia 17 (SCA17) knockin mice that inducibly express one copy of mutant TATA box binding protein (TBP) at different ages by tamoxifen-mediated Cre recombination. "
8.	Prion ProteinsIBA 01/01/2013 - "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). "
9.	Huntingtin ProteinIBA 09/14/2007 - "Huntington's disease, spinal and bulbar muscular atrophy, and spinocerebellar ataxia 17 (SCA17) are caused by expansions in the polyglutamine (polyQ) repeats in Huntingtin protein (Htt), androgen receptor protein (AR), and TATA-binding protein (TBP), respectively. "