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KMID : 1130620090050010029
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Journal of Clinical Neurology
2009 Volume.5 No. 1 p.29 ~ p.32
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The G2019S LRRK2 Mutation is Rare in Korean Patients with Parkinson’s Disease and Multiple System Atrophy
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Cho Jin-Whan
Kim Sung-Yeon
Park Sung-Sup
Jeon Beom S.
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Abstract
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Background and Purpose:The 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.
Methods:We 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.
Results:None of the subjects carried the G2019S mutation.
Conclusions:The 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.
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KEYWORD
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Parkinson’s disease, multiple system atrophy, LRRK2, G2019S mutation.
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