Spinocerebellar ataxia type 17 associated with an expansion of 42 glutamine residues in TATA-box binding protein gene

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 81, Issue 12, 2010, Pages 1396-1399

  Nolte, Dagmar ^a   Sobanski, E ^b   Wissen A ^a,c   Regula, J U ^d   Lichy, C ^d   Muller U ^a  

^a JUSTUS LIEBIG UNIVERSITY   (Germany)

^b CENTRAL INSTITUTE OF MENTAL HEALTH   (Germany)

^c UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

^d UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

GLUTAMINE; TATA BINDING PROTEIN; TRINUCLEOTIDE;

ADULT; ALLELE; ARTICLE; ATAXIA; CLINICAL ARTICLE; DYSARTHRIA; FEMALE; GAIT; GENE FREQUENCY; GENETIC ANALYSIS; HUMAN; MALE; PRIORITY JOURNAL; SPINOCEREBELLAR ATAXIA TYPE 17;

ADULT; AGED; ALLELES; ATROPHY; CEREBELLUM; CHROMOSOME ABERRATIONS; CODON; FEMALE; GENES, DOMINANT; GLUTAMINE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; PEDIGREE; PENETRANCE; SPINOCEREBELLAR ATAXIAS; TATA-BOX BINDING PROTEIN; TRINUCLEOTIDE REPEAT EXPANSION; YOUNG ADULT;

EID: 78649566546     PISSN: 00223050     EISSN: 1468330X     Source Type: Journal    
DOI: 10.1136/jnnp.2009.180711     Document Type: Article

References (25)

1. Rolfs A, Koeppen AH, Bauer I, et al. Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17). Ann Neurol 2003;54:367-75. (Pubitemid 37072039)
2. Stevanin G, Fujigasaki H, Lebre AS, et al. Huntington's disease-like phenotype due to trinucleotide repeat expansion in the TBP and JPH3 genes. Brain 2003;126:1599-603.
3. Bauer P, Laccone F, Rolfs A, et al. Trinucleotide repeat expansion in SCA17/TBP in white patients with Huntington's disease-like phenotype. J Med Genet 2004;41:230-2.
4. Schneider SA, van de Warrenburg BPC, Hughes TD, et al. Phenotypic homogeneity of the Huntington disease-like presentation in a SCA17 family. Neurology 2006;67:1701-3.
5. Koide R, Kobayashi S, Shimohata T, et al. A neurological disease caused by an expanded CAG trinucleotid repeat in the TATA-binding protein gene: a new polyglutamine disease. Hum Mol Genet 1999;18:2047-53.
6. Loy CT, Sweeney MG, Davis MB, et al. Spinocerebellar ataxia type 17: extension of phenotype with putaminal rim hyperintensity on magnetic resonance imaging. Mov Disord 2005;20:1521-3.
7. Watanabe M, Monai N, Jackson M, et al. A small trinucleotide expansion in the TBP gene gives rise to a sporadic case of SCA17 with abnormal putaminal findings on MRI. Intern Med 2008;47:2179-82.
8. Nakamura K, Jeong S, Uchihara T, et al. SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA binding protein. Hum Mol Genet 2001;10:1441-8.
9. Fujigasaki H, Martin JJ, De Deyn PP, et al. CAG repeat expansion in the TATA box-binding protein gene causes autosomal dominant cerebellar ataxia. Brain 2001;124:1939-47.
10. Van Roon-Mom WMC, Reid SJ, Faull RLM, et al. TATA-binding protein in neurodegenerative disease. Neuroscience 2005;133:863-72.
11. Friedman MJ, Shah AG, Fang ZH, et al. Polyglutamine domain modulates the TBP-TFIIB interaction: implications for its normal function and neurodegeneration. Nat Neurosci 2007;10:1519-28.
12. Toyoshima Y, Onodera O, Yamada Y, et al. Spinocerebellar ataxia type 17. Gene Reviews 2007. http://www.geneclinics.org.
13. Zühlke C, Dalski A, Schwinger E, et al. Spinocerebellar ataxia type 17: report of a family with reduced penetrance of an unstable Gln49 TBP allele, haplotype analysis supporting a founder effect for unstable alleles and comparative analysis of SCA17 genotypes. BMC Med Genet 2005;6:27. (Pubitemid 41418143)
14. Gao R, Matsuura T, Coolbaugh M, et al. Instability of expanded CAG/CAA repeats in spinocerebellar ataxia type 17. Eur J Hum Genet 2008;16:215-22.
15. Osterrieth PA. Le test du copie d'une figure complex: contribution à l'étude de la perception de la memoire. Arch Psychol 1944;30:286-95.
16. Stroop JR. Studies of interference in serial verbal reactions. J Exp Psychol 1935;18:643-62.
17. Zühlke C, Gehlken V, Hellenbroich Y, et al. Phenotypical variability of expanded alleles in the TATA-binding protein gene. Reduced penetrance in SCA17? J Neurol 2003;250:161-3.
18. Oda M, Maruyama H, Komure O, et al. Possible reduced penetrance of expansion of 44 to 47 CAG/CAA repeats in the TATA-binding protein gene in spinocerebellar ataxia type 17. Arch Neurol 2004;61:209-12.
19. Silveira I, Miranda C, Guimaraes L, et al. Trinucleotide repeats in 202 families with ataxia: a small expanded (CAG)n allele at the SCA17 locus. Arch Neurol 2002;59:623-9.
20. Mariotti C, Alpini D, Fancellu R, et al. Spinocerebellar ataxia type 17 (SCA17): oculomotor phenotype and clinical characterization of 15 Italian patients. J Neurol 2007;254:1538-46.
21. Lee LC, Chen CM, Chen FL, et al. Altered expression of HSPA5, HSPA8 and PARK7 in spinocerebellar ataxia type 17 identified by 2-dimensional fluorescence difference in gel electrophoresis. Clin Chim Acta 2009;400:56-62.
22. van Duijn CM, Dekker MCJ, Bonifati V, et al. PARK7, a novel locus for autosomal recessive early-onset parkinsonism, on chromosome 1p36. Am J Hum Genet 2001;69:629-34.
23. Taira T, Saito Y, Niki T, et al. DJ-1 has a role in antioxidative stress to prevent cell death. EMBO Rep 2004;5:213-18. (Pubitemid 38401204)
24. Tomiuk J, Bachmann L, Bauer C, et al. Repeat expansion in spinocerebellar ataxia type 17 alleles of the TATA-box binding protein gene: an evolutionary approach. Eur J Hum Genet 2007;15:81-7.
25. Nanda A, Jackson SA, Schwankhaus JD, et al. Case of spinocerebellar ataxia type 17 (SCA17) associated with only 41 repeats of the TATA-Binding protein (TBP) gene. Mov Disord 2007;22:436.