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The G2019S LRRK2 Mutation is Rare in Korean Patients with Parkinson’s Disease and Multiple System Atrophy

김성연|박성섭|전범석|조진환
대한신경과학회 (Korean Neurological Association)|2009.03|Journal of Clinical Neurology|제5권 제1호|pp. 29-32

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참고문헌

키워드

Parkinson’s diseaseLRRK2multiple system atrophyG2019S mutation

초록

Background and PurposeaaThe LRRK2 (PARK8; OMIM607060) substitution was recently identified as a causative mutation for Parkinson’s disease (PD). The pathologic heterogeneity of LRRK2-positive patients suggests that mutation of the LRRK2 gene is associated with the pathogenesis of PD and Parkinson-plus disorders, such as multiple system atrophy (MSA). We previously reported that the G2019S LRRK2 mutation-which is the most common LRRK2 mutation- was not found in a sample of 453 Korean PD patients. In the present study, we extended the screening for the G2019S mutation to a larger group of PD and MSA patients. MethodsaaWe performed a genetic analysis of the G2019S mutation in 877 patients with PD and 199 patients with MSA using a standard PCR and restriction digestion method. ResultsaaNone of the subjects carried the G2019S mutation. ConclusionsaaThe results of the present study support that the G2019S mutation is extremely rare in PD and is unlikely to be associated with MSA in the Korean population.

Abstract

Background and PurposeaaThe LRRK2 (PARK8; OMIM607060) substitution was recently identified as a causative mutation for Parkinson’s disease (PD). The pathologic heterogeneity of LRRK2-positive patients suggests that mutation of the LRRK2 gene is associated with the pathogenesis of PD and Parkinson-plus disorders, such as multiple system atrophy (MSA). We previously reported that the G2019S LRRK2 mutation-which is the most common LRRK2 mutation- was not found in a sample of 453 Korean PD patients. In the present study, we extended the screening for the G2019S mutation to a larger group of PD and MSA patients. MethodsaaWe performed a genetic analysis of the G2019S mutation in 877 patients with PD and 199 patients with MSA using a standard PCR and restriction digestion method. ResultsaaNone of the subjects carried the G2019S mutation. ConclusionsaaThe results of the present study support that the G2019S mutation is extremely rare in PD and is unlikely to be associated with MSA in the Korean population.

참고문헌 (35)

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관련 논문AI추천

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