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

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

Research output: Contribution to journalArticle

623 Citations (Scopus)

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 - 01-01-1994

Fingerprint

GTP Cyclohydrolase
Mutation
Dystonia
Genes
Levodopa
Blood Cells
Chromosomes
Dopa-Responsive Dystonia
Enzymes

All Science Journal Classification (ASJC) codes

  • Genetics

Cite this

Ichinose, Hiroshi ; Oe, Tamae ; Takahashi, Ei ichi ; Seki, Naohiko ; Hori, Tada aki ; Segawa, Masaya ; Nomura, Yoshiko ; Endo, Kotaro ; Tanaka, Hajime ; Tsuji, Shoji ; Fujita, Keisuke ; Nagatsu, Toshiharu. / Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene. In: Nature Genetics. 1994 ; Vol. 8, No. 3. pp. 236-242.
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Ichinose, H, Oe, T, Takahashi, EI, Seki, N, Hori, TA, 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, vol. 8, no. 3, pp. 236-242. https://doi.org/10.1038/ng1194-236

Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene. / Ichinose, Hiroshi; Oe, Tamae; Takahashi, Ei ichi; Seki, Naohiko; Hori, Tada aki; Segawa, Masaya; Nomura, Yoshiko; Endo, Kotaro; Tanaka, Hajime; Tsuji, Shoji; Fujita, Keisuke; Nagatsu, Toshiharu.

In: Nature Genetics, Vol. 8, No. 3, 01.01.1994, p. 236-242.

Research output: Contribution to journalArticle

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AU - Oe, Tamae

AU - Takahashi, Ei ichi

AU - Seki, Naohiko

AU - Hori, Tada aki

AU - Segawa, Masaya

AU - Nomura, Yoshiko

AU - Endo, Kotaro

AU - Tanaka, Hajime

AU - Tsuji, Shoji

AU - Fujita, Keisuke

AU - Nagatsu, Toshiharu

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