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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2009.1
- 수록면
- 29 - 32 (4page)
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초록· 키워드
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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.
목차
등록된 정보가 없습니다.
참고문헌 (28)
참고문헌 신청
[학술지(정기간행물)
Autere JM / 2000 / Familial aggregation of Parkinson’s disease in a Finnish population / J Neurol Neurosurg Psychiatry 69 : 107 ~ 109
Cho JW / 2007 / The G2019S LRRK2 mutation is rare in Korean patients with Parkinson’s disease / Can J Neurol Sci 34 : 53 ~ 55
Funayama M / 2005 / An LRRK2 mutation as a cause for the Parkinsonism in the original PARK8 family / Ann Neurol 57 : 918 ~ 921
Funayama M / 2020 / A new locus for Parkinson’s disease (PARK8) maps to chromosome 12 p11.2-q13.1 / Ann Neurol 51 : 296 ~ 301
Autere JM / 2000 / Familial aggregation of Parkinson’s disease in a Finnish population / J Neurol Neurosurg Psychiatry 69 : 107 ~ 109
Cho JW / 2007 / The G2019S LRRK2 mutation is rare in Korean patients with Parkinson’s disease / Can J Neurol Sci 34 : 53 ~ 55
Funayama M / 2005 / An LRRK2 mutation as a cause for the Parkinsonism in the original PARK8 family / Ann Neurol 57 : 918 ~ 921
Funayama M / 2020 / A new locus for Parkinson’s disease (PARK8) maps to chromosome 12 p11.2-q13.1 / Ann Neurol 51 : 296 ~ 301
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