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

Fingerprint

Levodopa
Mutation
Parkinsonian Disorders
Dystonia
Therapeutics
Dopa-Responsive Dystonia
Nervous System Malformations
Chi-Square Distribution
Nonparametric Statistics
Tertiary Care Centers
Neuroimaging
Demography
Students

Keywords

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

ASJC Scopus subject areas

  • Neurology
  • Geriatrics and Gerontology
  • Clinical Neurology

Cite this

Residual signs of dopa-responsive dystonia with GCH1 mutation following levodopa treatment are uncommon in Korean patients. / Ahn, Tae Beom; Chung, Sun Ju; Koh, Seong Beom; Park, Hyun Young; Cho, Jin Whan; Lee, Jae Hyeok; Hong, Jin Yong; Kwon, Do-Young; Shin, Chaewon; Lee, Jee Young; Lee, Woong Woo; Jeon, Beomseok.

In: Parkinsonism and Related Disorders, 01.01.2019.

Research output: Contribution to journalArticle

Ahn, Tae Beom ; Chung, Sun Ju ; Koh, Seong Beom ; Park, Hyun Young ; Cho, Jin Whan ; Lee, Jae Hyeok ; Hong, Jin Yong ; Kwon, Do-Young ; Shin, Chaewon ; Lee, Jee Young ; Lee, Woong Woo ; Jeon, Beomseok. / Residual signs of dopa-responsive dystonia with GCH1 mutation following levodopa treatment are uncommon in Korean patients. In: Parkinsonism and Related Disorders. 2019.
@article{b43e0a6028264903a80c1391ef99d200,
title = "Residual signs of dopa-responsive dystonia with GCH1 mutation following levodopa treatment are uncommon in Korean patients",
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.",
keywords = "Dopa responsive dystonia, Dystonia, GCH1, Guanosine triphosphate cyclohydrolase 1, Parkinsonism, Residual sign",
author = "Ahn, {Tae Beom} and Chung, {Sun Ju} and Koh, {Seong Beom} and Park, {Hyun Young} and Cho, {Jin Whan} and Lee, {Jae Hyeok} and Hong, {Jin Yong} and Do-Young Kwon and Chaewon Shin and Lee, {Jee Young} and Lee, {Woong Woo} and Beomseok Jeon",
year = "2019",
month = "1",
day = "1",
doi = "10.1016/j.parkreldis.2019.06.005",
language = "English",
journal = "Parkinsonism and Related Disorders",
issn = "1353-8020",
publisher = "Elsevier BV",

}

TY - JOUR

T1 - Residual signs of dopa-responsive dystonia with GCH1 mutation following levodopa treatment are uncommon in Korean patients

AU - Ahn, Tae Beom

AU - Chung, Sun Ju

AU - Koh, Seong Beom

AU - Park, Hyun Young

AU - Cho, Jin Whan

AU - Lee, Jae Hyeok

AU - Hong, Jin Yong

AU - Kwon, Do-Young

AU - Shin, Chaewon

AU - Lee, Jee Young

AU - Lee, Woong Woo

AU - Jeon, Beomseok

PY - 2019/1/1

Y1 - 2019/1/1

N2 - 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.

AB - 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.

KW - Dopa responsive dystonia

KW - Dystonia

KW - GCH1

KW - Guanosine triphosphate cyclohydrolase 1

KW - Parkinsonism

KW - Residual sign

UR - http://www.scopus.com/inward/record.url?scp=85067275731&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85067275731&partnerID=8YFLogxK

U2 - 10.1016/j.parkreldis.2019.06.005

DO - 10.1016/j.parkreldis.2019.06.005

M3 - Article

JO - Parkinsonism and Related Disorders

JF - Parkinsonism and Related Disorders

SN - 1353-8020

ER -