LRRK2 screening in a Canadian Parkinson's disease cohort.
BACKGROUND
Mutations in the leucine-rich repeat kinase 2 gene (LRRK2) have become the most common known cause for developing Parkinson's disease. The frequency of mutations described in the literature varies widely depending on the population studied with most reports focusing only on screening for the most common G2019S mutation in exon 41.


METHODS
In this study seven exons (19, 24, 25, 31, 35, 38, and 41) in LRRK2 where mutations have been reported were screened in 230 unselected Parkinson's disease patients using denaturing high-performance liquid chromatography.


RESULTS
The sequencing of samples with heteroduplex profiles revealed five novel and two known intronic sequence variants. In our cohort, we were unable to detect any of the known mutations in these exons or identify novel mutations within the LRRK2 gene.


CONCLUSIONS
Therefore, despite the availability of diagnostic LRRK2 genetic testing it is unlikely to yield a positive result in this population.
Grimes
D A
DA
Department of Medicine, Division of Neurology, The Ottawa Hospital, Ottawa Health Research institute, University of Ottawa, ON, Canada.
Racacho
L
L
Han
F
F
Panisset
M
M
Bulman
D E
DE
D000328:Adult; D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D001483:Base Sequence / Q000235:genetics; D002170:Canada / Q000453:epidemiology; D002851:Chromatography, High Pressure Liquid; D015331:Cohort Studies; D004252:DNA Mutational Analysis / Q000592:standards / Q000639:trends; D005091:Exons / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing / Q000592:standards* / Q000639:trends; D005838:Genotype; D006801:Humans; D007438:Introns / Q000235:genetics; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D010300:Parkinson Disease / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D011237:Predictive Value of Tests; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*