A novel mutation of the GTP-cyclohydrolase I gene in a patient with hereditary progressive dystonia/dopa-responsive dystonia

Y. Imaiso, T. Taniwaki, T. Yamada, T. Yoshimura, M. Hirano, S. Ueno, N. Kaneda, J. Kira

研究成果: Contribution to journalArticle査読

15 被引用数 (Scopus)

抄録

We report a 37-year-old Japanese woman with hereditary progressive dystonia with marked diurnal fluctuation and dopa-responsive dystonia. She developed dystonia in the lower limbs at the age 11 years, followed by spasmodic torticollis and resting tremor of the feet, which responded remarkably to low doses of levodopa (100 mg/day). Concentrations of biopterin and neopterin in CSF were decreased. Polymerase chain reaction analysis of the guanosine 5'-triphosphate cyclohydrolase I gene revealed a novel mutation.

本文言語英語
ページ(範囲)517-519
ページ数3
ジャーナルNeurology
50
2
DOI
出版ステータス出版済み - 2 1998

All Science Journal Classification (ASJC) codes

  • 臨床神経学

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