Literature DB >> 17853080

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

Christine Zühlke1, Katrin Bürk.   

Abstract

The spinocerebellar ataxia type 17 (SCA17) is characterized by cerebellar ataxia, dementia, and involuntary movements, including chorea and dystonia. In addition, psychiatric symptoms, pyramidal signs, and rigidity are common. MRI shows variable atrophy of the cerebrum, brainstem, and cerebellum. The autosomal dominantly inherited progressive neurodegenerative disorder is caused by an expanded CAA/CAG repeat coding for glutamine. Alleles of the normal range carry 25 to 42 glutamine residues, disease causing alleles 43 to 63. Alleles with 43 to 48 glutamine codons may be associated with incomplete penetrance. The mean age of onset is about 30 years for individuals with full-penetrance alleles, but ranges from three to 55 years.

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Year:  2007        PMID： 17853080     DOI： 10.1080/14734220601136177

Source DB:  PubMed          Journal:  Cerebellum        ISSN： 1473-4222            Impact factor:   3.847


  61 in total

1.  Trinucleotide repeat expansion in SCA17/TBP in white patients with Huntington's disease-like phenotype.

Authors:  P Bauer; F Laccone; A Rolfs; U Wüllner; S Bösch; H Peters; S Liebscher; M Scheible; J T Epplen; B H F Weber; E Holinski-Feder; H Weirich-Schwaiger; D J Morris-Rosendahl; J Andrich; O Riess
Journal:  J Med Genet       Date:  2004-03       Impact factor: 6.318

2.  Autosomal dominant cerebellar ataxia type I clinical features and MRI in families with SCA1, SCA2 and SCA3.

Authors:  K Bürk; M Abele; M Fetter; J Dichgans; M Skalej; F Laccone; O Didierjean; A Brice; T Klockgether
Journal:  Brain       Date:  1996-10       Impact factor: 13.501

3.  Functional domains and upstream activation properties of cloned human TATA binding protein.

Authors:  M G Peterson; N Tanese; B F Pugh; R Tjian
Journal:  Science       Date:  1990-06-29       Impact factor: 47.728

4.  CAG repeat instability at SCA2 locus: anchoring CAA interruptions and linked single nucleotide polymorphisms.

Authors:  S Choudhry; M Mukerji; A K Srivastava; S Jain; S K Brahmachari
Journal:  Hum Mol Genet       Date:  2001-10-01       Impact factor: 6.150

5.  Analysis of polyglutamine-coding repeats in the TATA-binding protein in different human populations and in patients with schizophrenia and bipolar affective disorder.

Authors:  D C Rubinsztein; J Leggo; T J Crow; L E DeLisi; C Walsh; S Jain; E S Paykel
Journal:  Am J Med Genet       Date:  1996-09-20

6.  CAG repeat expansion in the TATA box-binding protein gene causes autosomal dominant cerebellar ataxia.

Authors:  H Fujigasaki; J J Martin; P P De Deyn; A Camuzat; D Deffond; G Stevanin; B Dermaut; C Van Broeckhoven; A Dürr; A Brice
Journal:  Brain       Date:  2001-10       Impact factor: 13.501

7.  Machado-Joseph disease: correlation between the clinical features, the CAG repeat length and homozygosity for the mutation.

Authors:  I Lerer; D Merims; D Abeliovich; J Zlotogora; N Gadoth
Journal:  Eur J Hum Genet       Date:  1996       Impact factor: 4.246

8.  Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families.

Authors:  Alfredo Brusco; Cinzia Gellera; Claudia Cagnoli; Alessandro Saluto; Alessia Castucci; Chiara Michielotto; Vincenza Fetoni; Caterina Mariotti; Nicola Migone; Stefano Di Donato; Franco Taroni
Journal:  Arch Neurol       Date:  2004-05

9.  Genetic testing in spinocerebellar ataxia in Taiwan: expansions of trinucleotide repeats in SCA8 and SCA17 are associated with typical Parkinson's disease.

Authors:  Y R Wu; H Y Lin; C M Chen; K Gwinn-Hardy; L S Ro; Y C Wang; S H Li; J C Hwang; K Fang; H M Hsieh-Li; M L Li; L C Tung; M T Su; K T Lu; G J Lee-Chen
Journal:  Clin Genet       Date:  2004-03       Impact factor: 4.438

10.  Dementia, ataxia, extrapyramidal features, and epilepsy: phenotype spectrum in two Italian families with spinocerebellar ataxia type 17.

Authors:  G De Michele; F Maltecca; M Carella; G Volpe; M Orio; A De Falco; S Gombia; A Servadio; G Casari; A Filla; A Bruni
Journal:  Neurol Sci       Date:  2003-10       Impact factor: 3.307
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  12 in total

Review 1.  The cerebellum, cerebellar disorders, and cerebellar research--two centuries of discoveries.

Authors:  Mario Manto
Journal:  Cerebellum       Date:  2008       Impact factor: 3.847

2.  Spinocerebellar ataxias type 8, 12, and 17 and dentatorubro-pallidoluysian atrophy in Czech ataxic patients.

Authors:  Zuzana Musova; Zdenek Sedlacek; Radim Mazanec; Jiri Klempir; Jan Roth; Pavlina Plevova; Martin Vyhnalek; Marta Kopeckova; Ludmila Apltova; Anna Krepelova; Alena Zumrova
Journal:  Cerebellum       Date:  2013-04       Impact factor: 3.847

3.  CAG repeats determine brain atrophy in spinocerebellar ataxia 17: a VBM study.

Authors:  Kathrin Reetz; Alexandra Kleiman; Christine Klein; Rebekka Lencer; Christine Zuehlke; Kathrin Brockmann; Arndt Rolfs; Ferdinand Binkofski
Journal:  PLoS One       Date:  2011-01-19       Impact factor: 3.240

Review 4.  Fragile X-associated tremor/ataxia syndrome: phenotypic comparisons with other movement disorders.

Authors:  Erin E Robertson; Deborah A Hall; Andrew R McAsey; Joan A O'Keefe
Journal:  Clin Neuropsychol       Date:  2016-08       Impact factor: 3.535

5.  Downregulation of proteins involved in the endoplasmic reticulum stress response and Nrf2-ARE signaling in lymphoblastoid cells of spinocerebellar ataxia type 17.

Authors:  Li-Ching Lee; Yu-Ting Weng; Yih-Ru Wu; Bing-Wen Soong; Yung-Che Tseng; Chiung-Mei Chen; Guey-Jen Lee-Chen
Journal:  J Neural Transm (Vienna)       Date:  2014-01-11       Impact factor: 3.575

Review 6.  Sleep Disorders in Hereditary Ataxias.

Authors:  Lucio Huebra; Fernando Morgadinho Coelho; Flávio Moura Rezende Filho; Orlando G Barsottini; José Luiz Pedroso
Journal:  Curr Neurol Neurosci Rep       Date:  2019-07-25       Impact factor: 5.081

7.  Structural changes associated with progression of motor deficits in spinocerebellar ataxia 17.

Authors:  Kathrin Reetz; Rebekka Lencer; Johannes M Hagenah; Christian Gaser; Vera Tadic; Uwe Walter; Alexander Wolters; Susanne Steinlechner; Christine Zühlke; Katja Brockmann; Christine Klein; Arndt Rolfs; Ferdinand Binkofski
Journal:  Cerebellum       Date:  2010-06       Impact factor: 3.847

8.  Past, present and future therapeutics for cerebellar ataxias.

Authors:  D Marmolino; M Manto
Journal:  Curr Neuropharmacol       Date:  2010-03       Impact factor: 7.363

9.  From normal gait to loss of ambulation in 6 months: a novel presentation of SCA17.

Authors:  R Mehanna; I Itin
Journal:  Cerebellum       Date:  2013-08       Impact factor: 3.847

10.  Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity.

Authors:  Hanyin Cheng; Simona Capponi; Emma Wakeling; Elaine Marchi; Quan Li; Mengge Zhao; Chunhua Weng; Piatek G Stefan; Helena Ahlfors; Robert Kleyner; Alan Rope; Aimé Lumaka; Prosper Lukusa; Koenraad Devriendt; Joris Vermeesch; Jennifer E Posey; Elizabeth E Palmer; Lucinda Murray; Eyby Leon; Jullianne Diaz; Lisa Worgan; Amalia Mallawaarachchi; Julie Vogt; Sonja A de Munnik; Lauren Dreyer; Gareth Baynam; Lisa Ewans; Zornitza Stark; Sebastian Lunke; Ana R Gonçalves; Gabriela Soares; Jorge Oliveira; Emily Fassi; Marcia Willing; Jeff L Waugh; Laurence Faivre; Jean-Baptiste Riviere; Sebastien Moutton; Shehla Mohammed; Katelyn Payne; Laurence Walsh; Amber Begtrup; Maria J Guillen Sacoto; Ganka Douglas; Nora Alexander; Michael F Buckley; Paul R Mark; Lesley C Adès; Sarah A Sandaradura; James R Lupski; Tony Roscioli; Pankaj B Agrawal; Antonie D Kline; Kai Wang; H T Marc Timmers; Gholson J Lyon
Journal:  Hum Mutat       Date:  2019-10-23       Impact factor: 4.878
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