지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2017.1
- 수록면
- 221 - 226 (6page)
이용수
초록· 키워드
오류제보하기
Purpose: Paroxysmal kinesigenic dyskinesia (PKD) is a rare paroxysmal movement disorder characterized by recurrent and brief dyskinesia attacks triggered by sudden voluntary movement. The diagnosis of PKD is based on clinical findings, and mutations in the proline-rich transmembrane protein 2 (PRRT2) gene have been identified as the cause of PKD. Two Korean cohorts have been reported on PRRT2 mutation analysis in PKD patients. The purpose of this study was to determine the mutation spectrum of the PRRT2 gene and to examine the clinical characteristics associated with PRRT2 mutations.
Methods: We studied 23 members of four families with familial PKD and two families with sporadic PKD which included 9 patients and 2 patients, respectively. Mutation analysis of the PRRT2 gene was performed using Sanger sequencing. Clinical features of PKD were compared between patients with a PRRT2 mutation and those with no detectable PRRT2 mutation.
Results: PRRT2 mutations were detected in three of four PKD families (75%), and in none of the two sporadic cases (0%). All detected PRRT2 mutations were c.649dupC (p.Arg217Profs*8). Subjects with detected PRRT2 mutations had earlier age at onset and longer duration of attacks.
Conclusion: As previously reported in Korean PKD patients, our results confirmed that PRRT2 is a major causative gene for familial PKD, and the c.649dupC is the most frequent mutation. PRRT2 mutation analysis is required for the molecular diagnosis of familial PKD and for evaluating the clinical manifestations of PKD.
목차
등록된 정보가 없습니다.
참고문헌 (24)
참고문헌 신청
Bennett LB / 2000 / A locus for paroxysmal kinesigenic dyskinesia maps to human chromosome 16 / Neurology 54 : 125 ~ 130
Bruno MK / 2004 / Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia : new diagnostic criteria / Neurology 63 : 2280 ~ 2287
Chen WJ / 2011 / Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia / Nat Genet 43 : 1252 ~ 1255
Ebrahimi-Fakhari D / 2015 / The evolving spectrum of PRRT2-associated paroxysmal diseases / Brain 138 : 3476 ~ 3495
Gardella E / 2016 / Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation / Ann Neurol 79 : 428 ~ 436
Bruno MK / 2004 / Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia : new diagnostic criteria / Neurology 63 : 2280 ~ 2287
Chen WJ / 2011 / Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia / Nat Genet 43 : 1252 ~ 1255
Ebrahimi-Fakhari D / 2015 / The evolving spectrum of PRRT2-associated paroxysmal diseases / Brain 138 : 3476 ~ 3495
Gardella E / 2016 / Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation / Ann Neurol 79 : 428 ~ 436
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