Genetic screening for a single common LRRK2 mutation in familial Parkinson's disease.
Mutations in the leucine-rich repeat kinase 2 (LRRK2) gene cause some forms of autosomal dominant Parkinson's disease. We measured the frequency of a novel mutation (Gly2019 ser) in familial Parkinson's disease by screening genomic DNA of patients and controls. Of 767 affected individuals from 358 multiplex families, 35 (5%) individuals were either heterozygous (34) or homozygous (one) for the mutation, and had typical clinical findings of idiopathic Parkinson's disease. Thus, our results suggest that a single LRRK2 mutation causes Parkinson's disease in 5% of individuals with familial disease. Screening for this mutation should be a component of genetic testing for Parkinson's disease.
Nichols
William C
WC
Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA. Bill.nichols@cchmc.org
Pankratz
Nathan
N
Hernandez
Dena
D
Paisán-Ruíz
Coro
C
Jain
Shushant
S
Halter
Cheryl A
CA
Michaels
Veronika E
VE
Reed
Terry
T
Rudolph
Alice
A
Shults
Clifford W
CW
Singleton
Andrew
A
Foroud
Tatiana
T
D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D005838:Genotype; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D008297:Male; D008875:Middle Aged; D010300:Parkinson Disease / Q000235:genetics*; D017354:Point Mutation; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*
C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases