title: Mutations in LRRK2 other than G2019S are rare in a north American-based sample of familial Parkinson's disease.
abstract: 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.
authors.affiliation: Indiana University Medical Center, Indianapolis, Indiana, USA.
authors.forename: Nathan
authors.initials: N
authors.lastname: Pankratz
authors.forename: Michael W
authors.initials: MW
authors.lastname: Pauciulo
authors.forename: Veronika E
authors.initials: VE
authors.lastname: Elsaesser
authors.forename: Diane K
authors.initials: DK
authors.lastname: Marek
authors.forename: Cheryl A
authors.initials: CA
authors.lastname: Halter
authors.forename: Alice
authors.initials: A
authors.lastname: Rudolph
authors.forename: Clifford W
authors.initials: CW
authors.lastname: Shults
authors.forename: Tatiana
authors.initials: T
authors.lastname: Foroud
authors.forename: William C
authors.initials: WC
authors.lastname: Nichols
mesh_terms: 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*
chemical_list: D012694:Serine; C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases; D005998:Glycine