Residual signs of dopa-responsive dystonia with GCH1 mutation following levodopa treatment are uncommon in Korean patients

Tae Beom Ahn, Sun Ju Chung, Seong Beom Koh, Hyun Young Park, Jin Whan Cho, Jae Hyeok Lee, Jin Yong Hong, Do-Young Kwon, Chaewon Shin, Jee Young Lee, Woong Woo Lee, Beomseok Jeon

Research output: Contribution to journalArticle

Abstract

Introduction: Dopa-responsive dystonia (DRD) related to GCH1 mutation is a biochemical disorder. DRD is majorly characterized by dystonia and/or parkinsonism. Although clinical disorders show a dramatic positive response to levodopa, there are controversies over the residual signs following treatment. This study was designed to investigate the residual signs following levodopa treatment in Korean DRD patients with GCH1 mutation. Methods: A structured questionnaire was prepared to obtain information about demographic factors, clinical characteristics, genetic data, neuroimaging data and residual signs following levodopa treatment of the patients, and was sent to movement specialists at tertiary hospitals. The data collected from the returned forms were analyzed using appropriate statistical methods such as Student's t-test, Mann-Whitney U test, Chi-square test or Fisher's exact test. Results: Thirty-nine DRD Korean patients with GCH1 mutation were recruited. One patient was presented with only parkinsonism. Dystonia was completely resolved in 32 out of 38 patients following treatment, while parkinsonism improved without residual signs in 8 out of 9 patients. The frequency of the residual signs in Korean patients (15.8% for dystonia and 11.1% for parkinsonism) is similar to that observed in Chinese patients, but lower in Western patients. Furthermore, these signs were more frequent in those patients with a delay in their diagnosis, and those who were relatively older at the time of diagnosis. Conclusions: Ethnic differences, age at diagnosis, and a temporal gap between the onset and diagnosis in Korean patients may influence the remaining neurologic abnormalities of DRD.

Original languageEnglish
JournalParkinsonism and Related Disorders
DOIs
Publication statusPublished - 2019 Jan 1

Keywords

  • Dopa responsive dystonia
  • Dystonia
  • GCH1
  • Guanosine triphosphate cyclohydrolase 1
  • Parkinsonism
  • Residual sign

ASJC Scopus subject areas

  • Neurology
  • Geriatrics and Gerontology
  • Clinical Neurology

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