The G2019S LRRK2 Mutation is Rare in Korean Patients with Parkinson's Disease and Multiple System Atrophy
Journal of Clinical Neurology
; : 29-32, 2009.
Article
in English
| WPRIM (Western Pacific)
| ID: wpr-211099
Responsible library:
WPRO
ABSTRACT
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.
Full text:
Available
Database:
WPRIM (Western Pacific)
Main subject:
Parkinson Disease
/
Population Characteristics
/
Mass Screening
/
Polymerase Chain Reaction
/
Multiple System Atrophy
/
Digestion
Type of study:
Prognostic study
/
Screening study
Aspects:
Social determinants of health
Limits:
Humans
Language:
English
Journal:
Journal of Clinical Neurology
Year:
2009
Document type:
Article