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Volumn 13, Issue 4, 2007, Pages 246-249

The SCA17 phenotype can include features of MSA-C, PSP and cognitive impairment

Author keywords

MSA; PSP; SCA17; Taiwanese; TATA box binding protein (TBP)

Indexed keywords

6 FLUORODOPA; BENSERAZIDE PLUS LEVODOPA; BUSPIRONE; CARBIDOPA PLUS LEVODOPA; ROPINIROLE;

EID: 34247117930     PISSN: 13538020     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.parkreldis.2006.04.009     Document Type: Article
Times cited : (61)

References (9)
  • 1
    • 8144228406 scopus 로고    scopus 로고
    • Trinucleotide repeats and neurodegenerative disease
    • Everett C.M., and Wood N.W. Trinucleotide repeats and neurodegenerative disease. Brain 127 (2004) 2385-2405
    • (2004) Brain , vol.127 , pp. 2385-2405
    • Everett, C.M.1    Wood, N.W.2
  • 2
    • 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., Ikeuchi T., Maruyama M., Saito M., et al. A neurological disease caused by an expanded CAG trinucleotide repeat in the TATA-binding protein gene: a new polyglutamine disease?. Human Mol Genet 8 (1999) 2047-2053
    • (1999) Human Mol Genet , vol.8 , pp. 2047-2053
    • Koide, R.1    Kobayashi, S.2    Shimohata, T.3    Ikeuchi, T.4    Maruyama, M.5    Saito, M.6
  • 3
    • 0035076389 scopus 로고    scopus 로고
    • Different types of repeat expansion in the TATA-binding protein gene are associated with a new form of inherited ataxia
    • Zuhlke C., Hellenbroich Y., Dalski A., Kononowa N., Hagenah J., Vieregge P., et al. Different types of repeat expansion in the TATA-binding protein gene are associated with a new form of inherited ataxia. Eur J Human Genet 9 (2001) 160-164
    • (2001) Eur J Human Genet , vol.9 , pp. 160-164
    • Zuhlke, C.1    Hellenbroich, Y.2    Dalski, A.3    Kononowa, N.4    Hagenah, J.5    Vieregge, P.6
  • 4
    • 0035393427 scopus 로고    scopus 로고
    • SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein
    • Nakamura K., Jeong S.Y., Uchihara T., Anno M., Nagashima K., Nagashima T., et al. SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein. Human Mol Genet 10 (2001) 1441-1448
    • (2001) Human Mol Genet , vol.10 , pp. 1441-1448
    • Nakamura, K.1    Jeong, S.Y.2    Uchihara, T.3    Anno, M.4    Nagashima, K.5    Nagashima, T.6
  • 5
    • 0034783914 scopus 로고    scopus 로고
    • CAG repeat expansion in the TATA box-binding protein gene causes autosomal dominant cerebellar ataxia
    • Fujigasaki H., Martin J.J., De Deyn P.P., Camuzat A., Deffond D., Stevanin G., et al. CAG repeat expansion in the TATA box-binding protein gene causes autosomal dominant cerebellar ataxia. Brain 124 (2001) 1939-1947
    • (2001) Brain , vol.124 , pp. 1939-1947
    • Fujigasaki, H.1    Martin, J.J.2    De Deyn, P.P.3    Camuzat, A.4    Deffond, D.5    Stevanin, G.6
  • 6
    • 0042837890 scopus 로고    scopus 로고
    • Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17)
    • Rolfs A., Koeppen A.H., Bauer I., Bauer P., Buhlmann S., Topka H., et al. Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17). Ann Neurol 54 (2003) 367-375
    • (2003) Ann Neurol , vol.54 , pp. 367-375
    • Rolfs, A.1    Koeppen, A.H.2    Bauer, I.3    Bauer, P.4    Buhlmann, S.5    Topka, H.6
  • 7
    • 0035353759 scopus 로고    scopus 로고
    • Pontine MRI hyperintensities ("the cross sign") are not pathognomonic for multiple system atrophy (MSA)
    • Burk K., Skalej M., and Dichgans J. Pontine MRI hyperintensities ("the cross sign") are not pathognomonic for multiple system atrophy (MSA). Mov Disord 16 (2001) 535
    • (2001) Mov Disord , vol.16 , pp. 535
    • Burk, K.1    Skalej, M.2    Dichgans, J.3
  • 8
    • 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 Y.R., Lin H.Y., Chen C.M., Gwinn-Hardy K., Ro L.S., Wang Y.C., 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 65 (2004) 209-214
    • (2004) Clin Genet , vol.65 , pp. 209-214
    • Wu, Y.R.1    Lin, H.Y.2    Chen, C.M.3    Gwinn-Hardy, K.4    Ro, L.S.5    Wang, Y.C.6
  • 9
    • 0037321835 scopus 로고    scopus 로고
    • Phenotypical variability of expanded alleles in the TATA-binding protein gene. Reduced penetrance in SCA17?
    • Zuhlke C., Gehlken U., Hellenbroich Y., Schwinger E., and Burk K. Phenotypical variability of expanded alleles in the TATA-binding protein gene. Reduced penetrance in SCA17?. J Neurol 250 (2003) 161-163
    • (2003) J Neurol , vol.250 , pp. 161-163
    • Zuhlke, C.1    Gehlken, U.2    Hellenbroich, Y.3    Schwinger, E.4    Burk, K.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.