Small de novo duplication in the repeat region of the TATA-box-binding protein gene manifest with a phenotype similar to variant Creutzfeldt-Jakob disease

Clinical Genetics

Volumn 66, Issue 6, 2004, Pages 496-501

  Shatunov, A ^a   Fridman, E A ^a   Pagan, F I ^a   Leib, J ^a   Singleton, A ^b   Hallett, M ^a   Goldfarb, Lev G ^a  

^a NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^b NATIONAL INSTITUTE ON AGING   (United States)

Author keywords

DNA rearrangement; Insertion duplication; Spinocerebellar ataxia; TATA box binding protein; Variant Creutzfeldt Jakob disease

Indexed keywords

TATA BINDING PROTEIN;

ADULT; ALLELE; ARTICLE; ATAXIA; CASE REPORT; CHROMOSOME ANALYSIS; CODON; COGNITIVE DEFECT; CREUTZFELDT JAKOB DISEASE; DEGENERATIVE DISEASE; DISEASE COURSE; FEMALE; GENE DUPLICATION; GENE MUTATION; GENE REARRANGEMENT; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HUMAN; HUNTINGTON CHOREA; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRION DISEASE; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN STRUCTURE; SEQUENCE ANALYSIS; SEQUENCE HOMOLOGY; SPINOCEREBELLAR DEGENERATION; STRUCTURE ANALYSIS; TANDEM REPEAT; TRINUCLEOTIDE REPEAT;

ADULT; AMYLOID; CHROMOSOMES, HUMAN, PAIR 6; CREUTZFELDT-JAKOB SYNDROME; FEMALE; HAPLOTYPES; HUMANS; MUTATION; PEDIGREE; PHENOTYPE; PRIONS; PROTEIN PRECURSORS; SPINOCEREBELLAR ATAXIAS; TATA-BOX BINDING PROTEIN; TRINUCLEOTIDE REPEAT EXPANSION;

ATAXIA;

EID: 9444224946     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2004.00356.x     Document Type: Article

References (26)

1. Koide R, Kobayashi S, Shimohata T et al. A neurological disease caused by an expanded CAG trinucleotide repeat in the TATA-binding protein gene: a new polyglutamine disease? Hum Mol Genet 1999: 8: 2047-2053.
2. Rolfs A, Koeppen AH, Bauer I et al. Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17). Ann Neurol 2003: 54: 367-375.
3. Zühlke CH, Spranger M, Spranger S et al. SCA17 caused by homozygous repeat expansion in TBP due to partial isodisomy 6. Eur J Hum Genet 2003: 11: 629-632.
4. Imbert G, Trottier Y, Beckmann J, Mandel JL. The gene for the TATA binding protein (TBP) that contains a highly polymorphic protein coding CAG repeat maps to 6q27. Genomics 1994: 21: 667-668.
5. Nakamura K, Jeong SY, 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: 1441-1448.
6. 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: 1939-1947.
7. Maruyama H, Izumi Y, Morino H et al. Difference in disease-free survival curve and regional distribution according to subtype of spinocerebellar ataxia: a study of 1,286 Japanese patients. Am J Med Genet 2002: 114: 578-583.
8. Inoue K, Lupski JR. Molecular mechanisms for genomic disorders. Annu Rev Genomics Hum Genet 2002: 3: 199-242.
9. De Michele G, Maltecca F, Carella M et al. Dementia, ataxia, extrapyramidal features, and epilepsy: phenotype spectrum in two Italian families with spinocerebellar ataxia type 17. Neurol Sci 2003: 24: 166-167.
10. Stevanin G, Fujigasaki H, Lebre AS et al. Huntington's disease-like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genes. Brain 2003: 126: 1599-1603.
11. 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: 230-232.
12. Wu YR, Lin HY, Chen CM et al. Genetic testing in spinocerebellar ataxia in Taiwan: expansions of trinucleotide repeats in SCA8 and SCA17 are associated with typical Parkinson's disease. Clin Genet 2004: 65: 209-214.
13. Hagenah JM, Zuhlke C, Hellenbroich Y, Heide W, Klein C. Focal dystonia as a presenting sign of spinocerebellar ataxia 17. Mov Disord 2004: 19: 217-220.
14. Brown P, Will RG, Bradley R, Asher DM, Detwiler L. Bovine spongiform encephalopathy and variant Creutzfeldt-Jakob disease: background, evolution, and current concerns. Emerg Infect Dis 2001: 7: 6-16.
15. Hsich G, Kenney K, Gibbs CJ, Lee KH, Harrington MG. The 14-3-3 brain protein in cerebrospinal fluid as a marker for transmissible spongiform encephalopathies. N Engl J Med 1996: 335: 924-930.
16. Green AJ, Thompson EJ, Stewart GE et al. Use of 14-3-3 and other brain-specific proteins in CSF in the diagnosis of variant Creutzfeldt-Jakob disease. J Neurol Neurosurg Psychiatry 2001: 70: 744-748.
17. Zeidler M, Stewart GE, Barraclough CR et al. New variant Creutzfeldt-Jakob disease: neurological features and diagnostic tests. Lancet 1997: 350: 903-907.
18. Will RG, Zeidler M, Stewart GE et al. Diagnosis of new variant Creutzfeldt-Jakob disease. Ann Neurol 2000: 47: 575-582.
19. 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: 209-212.
20. Zühlke C, Gehlken U, Hellenbroich Y, Schwinger E, Bürk K. Phenotypical variability of expanded alleles in the TATA-binding protein gene. Reduced penetrance in SCA17? J Neurol 2003: 250: 161-163.
21. Toyoshima Y, Yamada M, Onodera O et al. SCA17 homozygote showing Huntington's disease-like phenotype. Ann Neurol 2004: 55: 281-286.
22. Chandley AC. On the parental origin of de novo mutation in man. J Med Genet 1991: 28: 217-223.
23. Pluciennik A, Iyer RR, Parniewski P, Wells RD. Tandem duplication. A novel type of triplet repeat instability. J Biol Chem 2000: 275: 28386-28397.
24. Scacheri PC, Garcia C, Hebert R, Hoffman EP. Unique PABP2 mutations in "Cajuns" suggest multiple founders of oculopharyngeal muscular dystrophy in populations with French ancestry. Am J Med Genet 1999: 86: 477-481.
25. van der Sluijs BM, van Engelen BG, Hoefsloot LH. Oculopharyngeal muscular dystrophy (OPMD) due to a small duplication in the PABPN1 gene. Hum Mutat 2003: 21: 609.
26. Nakamoto M, Nakano S, Kawashima S et al. Unequal crossing-over in unique PABP2 mutations in Japanese patients: a possible cause of oculopharyngeal muscular dystrophy. Arch Neurol 2002: 59: 474-477.