Journal of the Neurological Sciences
Volume 213, Issue 1 , Pages 25-28 , 15 September 2003

Spinocerebellar ataxia type 3 presenting as an l-DOPA responsive dystonia phenotype in a Chinese family

  • E Wilder-Smith

      Affiliations

    • Corresponding Author InformationCorresponding author. Tel.: +65-6772-4171; fax: +65-6779-4112.
    • Division of Neurology, National University Hospital, 5 Lower Kent Ridge Road, Singapore 119074, Singapore
    • ,
  • E.K Tan

      Affiliations

    • Department of Neurology, Singapore General Hospital, Singapore
    • ,
  • H.Y Law

      Affiliations

    • Genetic Service, KK Women and Children Hospital, Singapore
    • ,
  • Y Zhao

      Affiliations

    • Department of Clinical Research, Singapore General Hospital, Singapore
    • ,
  • I Ng

      Affiliations

    • Genetic Service, KK Women and Children Hospital, Singapore
    • ,
  • M.C Wong

      Affiliations

    • Department of Neurology, Singapore General Hospital, Singapore

Received 22 January 2003 ,Revised 8 April 2003 ,Accepted 18 April 2003.

References 

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  2. Higgins JJ, Nee LE, Vasconcelos O, Ide SE, Lavedan C, Goldfarb LG, et al.  Mutations in American families with spinocerebellar ataxia (SCA) type 3: SCA 3 is allelic to Machado–Joseph disease. Neurology. 1996;46:208–213
  3. Tan EK, Ashizawa T. Genetic testing in spinocerebellar ataxia: defining a clinical role. Arch. Neurol. 2001;58:191–195
  4. Tuite PJ, Rogaeva EA, St George-Hyslop PH, Lang AE. Dopa-responsive parkinsonism phenotype of Machado–Joseph disease: confirmation of 14q CAG expansion. Ann. Neurol. 1995;38:684–687
  5. Gwinn-Hardy K, Singleton A, O'Suilleabhain P, Boss M, Nicholl D, Adam A, et al.  Spinocerebellar ataxia type 3 phenotypically resembling Parkinson disease in a black family. Arch. Neurol. 2001;58:296–299
  6. Kawaguchi Y, Okamoto T, Taniwaki M, Aizawa M, Inoue M, Katayama S, et al.  CAG expansions in a novel gene for Machado–Joseph disease at chromosome 14q32.1. Nat. Genet. 1994;8:221–228
  7. Kyland K, Fryburg JS, Wilson WG, Bebin EM, Arnold LA, Gunasekera RS, et al.  Oral phenylalanine loading in dopa-responsive dystonia: a possible diagnostic test. Neurology. 1997;48:1290–1297
  8. Nygaard TG, Takahashi H, Heiman GA, Snow BJ, Fahn S, Calne DB. Long-term treatment response and flurodopa positron emission tomographic scanning of parkinsonism in a family with dopa-responsive dystonia. Ann. Neurol. 1992;32:603–608
  9. Tassin J, Durr A, Bonnet AM, Gil R, Vidailhet M, Lucking CB, et al.  Levodopa-responsive dystonia. GTP cyclohydrolase I or parkin mutations?. Brain. 2000;123:1112–1121
  10. Schols L, Amoiridis G, Buttner T, Przuntek H, Epplen JT, Riess O. Autosomal dominant cerebellar ataxia: phenotypic differences in genetically defined subtypes?. Ann. Neurol. 1997;42:924–932
  11. Takiyama Y, Sakoe K, Nakano I, Nishizawa M. Machado–Joseph disease: cerebellar ataxia and autonomic dysfunction in a patient with the shortest known expanded allele (56 CAG repeat units) of the MJD1 gene. Neurology. 1997;49:604–606
  12. Gwinn-Hardy K, Chen JY, Liu HC, Liu TY, Boss M, Seltzer W, et al.  Spinocerebellar ataxia type 2 with parkinsonism in ethnic Chinese. Neurology. 2000;55:800–805

PII: S0022-510X(03)00129-1

doi: 10.1016/S0022-510X(03)00129-1

Journal of the Neurological Sciences
Volume 213, Issue 1 , Pages 25-28 , 15 September 2003

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