論文

査読有り 国際誌
2018年8月

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

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

265
8
開始ページ
1860
終了ページ
1870
記述言語
英語
掲載種別
研究論文(学術雑誌)
DOI
10.1007/s00415-018-8930-8

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 magnetic resonance imaging scans, striatal dopamine transporter scans, and [123I] metaiodobenzylguanidine (MIBG) myocardiac scintigraphy scans. We identified 15 patients with heterozygous GCH1 mutations from seven probands and five sporadic cases. The prevalence of GCH1 mutations in probands was different between PD [1.9% (5/268)] and DRD [26.9% (7/26)] (p value < 0.0001). The onset age tends to be different between PD and DRD patients: 35.4 ± 25.3 and 16.5 ± 13.6, respectively (average ± SD; p = 0.08). Most of the patients were women (14/15). Dystonia was common symptom, and dysautonomia and cognitive decline were uncommon in our PD and DRD. All patients presented mild parkinsonism or dystonia with excellent response to levodopa. Seven of seven DRD and three of five PD presented normal heart-to-mediastinum ratio on MIBG myocardial scintigraphy. Five of six DRD and three of four PD demonstrated normal densities of dopamine transporter. Our findings elucidated the clinical characteristics of PD and DRD patients due to GCH1 mutations. PD patients with GCH1 mutations also had different symptoms from those seen in typical PD. The patients with GCH1 mutations had heterogeneous clinical symptoms.

リンク情報
DOI
https://doi.org/10.1007/s00415-018-8930-8
PubMed
https://www.ncbi.nlm.nih.gov/pubmed/29948246

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