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

研究成果: Article査読

658 被引用数 (Scopus)

抄録

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.

本文言語English
ページ(範囲)236-242
ページ数7
ジャーナルNature Genetics
8
3
DOI
出版ステータスPublished - 11-1994

All Science Journal Classification (ASJC) codes

  • 遺伝学

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