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

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Abstract

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.

Original languageEnglish
Pages (from-to)517-519
Number of pages3
JournalNeurology
Volume50
Issue number2
DOIs
Publication statusPublished - Feb 1998

All Science Journal Classification (ASJC) codes

  • Clinical Neurology

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    Imaiso, Y., Taniwaki, T., Yamada, T., Yoshimura, T., Hirano, M., Ueno, S., Kaneda, N., & Kira, J. (1998). A novel mutation of the GTP-cyclohydrolase I gene in a patient with hereditary progressive dystonia/dopa-responsive dystonia. Neurology, 50(2), 517-519. https://doi.org/10.1212/WNL.50.2.517