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Article

GCH1 mutations in dopa-responsive dystonia and Parkinson's disease.

Journal of neurology - 1 Aug 2018

Yoshino Hiroyo, Nishioka Kenya, Li Yuanzhe, Oji Yutaka, Oyama Genko, Hatano Taku, Machida Yutaka, Shimo Yasushi, Hayashida Arisa, Ikeda Aya, Mogushi Kaoru, Shibagaki Yasuro, Hosaka Ai, Iwanaga Hiroshi, Fujitake Junko, Ohi Takekazu, Miyazaki Daigo, Sekijima Yoshiki, Oki Mitsuaki, Kusaka Hirofumi, Fujimoto Ken-Ichi, Ugawa Yoshikazu, Funayama Manabu, Hattori Nobutaka

Abstract excerpt

Guanosine triphosphate cyclohydrolase I (GCH1) mutations are associated with increased risk for dopa-responsive dystonia (DRD) and Parkinson's disease (PD). Herein, we investigated the frequency of GCH1 mutations and clinical symptoms in patients with clinically diagnosed PD and DRD. We used the Sanger method to screen entire exons in 268 patients with PD and 26 patients with DRD, with the examinations of brain...

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Identifiers

PMID: 29948246
DOI: 10.1007/s00415-018-8930-8

Genes

GCH1

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