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Volumn 72, Issue 16, 2009, Pages 1385-1389

Spinocerebellar ataxia type 17 mutation as a causative and susceptibility gene in parkinsonism

Author keywords

[No Author keywords available]

Indexed keywords

ATAXIN 1; DOPAMINE TRANSPORTER; LEVODOPA; SPINOCEREBELLAR ATAXIA 17 PROTEIN; UNCLASSIFIED DRUG; [2 [[2 [[[3 (4 CHLOROPHENYL) 8 METHYL 8 AZABICYCLO[3.2.1]OCT 2 YL]METHYL](2 MERCAPTOETHYL)AMINO]ETHYL]AMINO]ETHANETHIOLATO]OXOTECHNETIUM TC 99M; BIOLOGICAL MARKER; DIAGNOSTIC AGENT; TATA BINDING PROTEIN; TBP PROTEIN, HUMAN; TECHNETIUM COMPLEX; TECHNETIUM TC 99M TRODAT 1; TECHNETIUM TC 99M TRODAT-1; TROPANE DERIVATIVE;

EID: 67449136057     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e3181a18876     Document Type: Article
Times cited : (68)

References (14)
  • 1
    • 0032885515 scopus 로고    scopus 로고
    • A neurological disease caused by an expanded CAG trinucleotide repeat in the TATA-binding protein gene: A new polyglutamine disease?
    • 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? HumMol Genet 1999;8:2047-2053.
    • (1999) HumMol Genet , vol.8 , pp. 2047-2053
    • Koide, R.1    Kobayashi, S.2    Shimohata, T.3
  • 2
    • 11144356369 scopus 로고    scopus 로고
    • Autosomal dominant cerebellar ataxias: Clinical features, genetics, and pathogenesis
    • Schols L, Bauer P, Schmidt T, Schulte T, Riess O. Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis. Lancet Neurol 2004;3:291-304.
    • (2004) Lancet Neurol , vol.3 , pp. 291-304
    • Schols, L.1    Bauer, P.2    Schmidt, T.3    Schulte, T.4    Riess, O.5
  • 3
    • 12144286184 scopus 로고    scopus 로고
    • Trinucleotide repeat expansion in SCA17/TBP in white patients with Huntington's disease-like phenotype
    • 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.
    • (2004) J Med Genet , vol.41 , pp. 230-232
    • Bauer, P.1    Laccone, F.2    Rolfs, A.3
  • 4
    • 10744232450 scopus 로고    scopus 로고
    • Possible reduced penetrance of expansion of 44 to 47 CAG/CAA repeats in the TATA-binding protein gene in spinocerebellar Ataxia Type 17
    • 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.
    • (2004) Arch Neurol , vol.61 , pp. 209-212
    • Oda, M.1    Maruyama, H.2    Komure, O.3
  • 5
    • 10744231577 scopus 로고    scopus 로고
    • Genetic testing in spinocerebellar ataxia in Taiwan: Expansions of trinucleotide repeats in SCA8 and SCA17 are associated with typical Parkinson's disease
    • 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.
    • (2004) Clin Genet , vol.65 , pp. 209-214
    • Wu, Y.R.1    Lin, H.Y.2    Chen, C.M.3
  • 7
    • 0035118860 scopus 로고    scopus 로고
    • Spinocerebellar ataxia type 3 phenotypically resembling Parkinson disease in a black family
    • Gwinn-Hardy K, Singleton A, O'Suilleabhain P, et al. Spinocerebellar ataxia type 3 phenotypically resembling Parkinson disease in a black family. Arch Neurol 2001;58: 296-299.
    • (2001) Arch Neurol , vol.58 , pp. 296-299
    • Gwinn-Hardy, K.1    Singleton, A.2    O'Suilleabhain, P.3
  • 8
    • 35348914402 scopus 로고    scopus 로고
    • Importance of low-range CAG expansion and CAA interruption in SCA2 Parkinsonism
    • Kim JM, Hong S, Kim GP, et al. Importance of low-range CAG expansion and CAA interruption in SCA2 Parkinsonism. Arch Neurol 2007;64:1510-1518.
    • (2007) Arch Neurol , vol.64 , pp. 1510-1518
    • Kim, J.M.1    Hong, S.2    Kim, G.P.3
  • 9
    • 24644471422 scopus 로고    scopus 로고
    • Putamen dopamine transporter and glucose metabolism are reduced in SCA17
    • Minnerop M, Joe A, Lutz M, et al. Putamen dopamine transporter and glucose metabolism are reduced in SCA17. Ann Neurol 2005;58:490-491.
    • (2005) Ann Neurol , vol.58 , pp. 490-491
    • Minnerop, M.1    Joe, A.2    Lutz, M.3
  • 10
    • 0042837890 scopus 로고    scopus 로고
    • Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17)
    • Rolfs A, Koeppen AH, Bauer I, et al. Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17). Ann Neurol 2003;54:367-375.
    • (2003) Ann Neurol , vol.54 , pp. 367-375
    • Rolfs, A.1    Koeppen, A.H.2    Bauer, I.3
  • 11
    • 0035393427 scopus 로고    scopus 로고
    • SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein
    • 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.
    • (2001) Hum Mol Genet , vol.10 , pp. 1441-1448
    • Nakamura, K.1    Jeong, S.Y.2    Uchihara, T.3
  • 12
    • 34447505182 scopus 로고    scopus 로고
    • Anticipation and intergenerational repeat instability in spinocerebellar ataxia type 17
    • Rasmussen A, De Blase I, Fragoso-Benítez M, et al. Anticipation and intergenerational repeat instability in spinocerebellar ataxia type 17. Ann Neurol 2007;61:607-610.
    • (2007) Ann Neurol , vol.61 , pp. 607-610
    • Rasmussen, A.1    De Blase, I.2    Fragoso-Benítez, M.3
  • 13
    • 37849012348 scopus 로고    scopus 로고
    • α-Synuclein gene duplication is present in sporadic Parkinson disease
    • Ahn TB, Kim SY, Kim JY, et al. α-Synuclein gene duplication is present in sporadic Parkinson disease. Neurology 2008;70:43-49.
    • (2008) Neurology , vol.70 , pp. 43-49
    • Ahn, T.B.1    Kim, S.Y.2    Kim, J.Y.3
  • 14
    • 34147175498 scopus 로고    scopus 로고
    • Case of spinocerebellar ataxia type 17 (SCA17) associated with only 41 repeats of the TATA-binding protein (TBP) gene
    • Nanda A, Jackson SA, Schwankhaus JD, Metzer WS. Case of spinocerebellar ataxia type 17 (SCA17) associated with only 41 repeats of the TATA-binding protein (TBP) gene. Mov Disord 2007;22:436.
    • (2007) Mov Disord , vol.22 , pp. 436
    • Nanda, A.1    Jackson, S.A.2    Schwankhaus, J.D.3    Metzer, W.S.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.