Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene

Hiroshi Ichinose, Tamae Ohye, Ei ichi Takahashi, Naohiko Seki, Tada aki Hori, Masaya Segawa, Yoshiko Nomura, Kotaro Endo, Hajime Tanaka, Shoji Tsuji, Keisuke Fujita, Toshiharu Nagatsu

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Abstract

Hereditary progressive dystonia with marked diurnal fluctuation (HPD) (also known as dopa responsive dystonia) is a dystonia with onset in childhood that shows a marked response without any side effects to levodopa. Recently the gene for dopa responsive dystonia (DRD) was mapped to chromosome 14q. Here we report that GTP cyclohydrolase I is mapped to 14q22.1–q22.2. The identification of four independent mutations of the gene for GTP cyclohydrolase I in patients with HPD, as well as a marked decrease in the enzymes activity in mononuclear blood cells, confirms that the GTP cyclohydrolase I gene is a causative gene for HPD/DRD. This is the first report of a causative gene for the inherited dystonias.

Original languageEnglish
Pages (from-to)236-242
Number of pages7
JournalNature Genetics
Volume8
Issue number3
DOIs
Publication statusPublished - 11-1994

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All Science Journal Classification (ASJC) codes

  • Genetics

Cite this

Ichinose, H., Ohye, T., Takahashi, E. I., Seki, N., Hori, T. A., Segawa, M., Nomura, Y., Endo, K., Tanaka, H., Tsuji, S., Fujita, K., & Nagatsu, T. (1994). Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene. Nature Genetics, 8(3), 236-242. https://doi.org/10.1038/ng1194-236