Mutations in LRRK2 other than G2019S are rare in a north American-based sample of familial Parkinson's disease.
A total of 956 individuals with Parkinson's disease (PD) from 430 multiplex PD pedigrees were screened for 12 previously reported, pathogenic LRRK2 mutations: R793M, L1114L, I1371V, R1441C, R1441G, R1441H, Y1699C, M1869T, I2012T, I2020T, G2385R, and IVS31 +3G > A. Previous screening identified the LRRK2 G2019S mutation in 5% of our families. Only 1 of the 12 newly screened mutations, R1441C, was detected in a single family in our patient cohort. These results indicate that, although the G2019S mutation remains the most common mutation identified in familial PD patients, other mutations in LRRK2 are infrequent.
Pankratz
Nathan
N
Indiana University Medical Center, Indianapolis, Indiana, USA.
Pauciulo
Michael W
MW
Elsaesser
Veronika E
VE
Marek
Diane K
DK
Halter
Cheryl A
CA
Rudolph
Alice
A
Shults
Clifford W
CW
Foroud
Tatiana
T
Nichols
William C
WC
D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D005192:Family Health; D005260:Female; D005820:Genetic Testing / Q000379:methods; D005998:Glycine / Q000235:genetics*; D006801:Humans; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D009656:North America / Q000453:epidemiology; D010300:Parkinson Disease / Q000235:genetics*; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D012694:Serine / Q000235:genetics*
D012694:Serine; C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases; D005998:Glycine