title: LRRK2 mutations are not common in Alzheimer's disease.
abstract: The development of common age-related neurodegenerative disorders as Parkinson's disease and Alzheimer's disease (AD) are influenced by genetic factors. Recently, pathogenic mutations in the leucine-rich repeat kinase 2 (LRRK2) gene have been identified in familial Parkinsonism. Individuals in some of these families developed symptoms of dementia with Lewy-bodies and AD. The LRRK2 gene is also located within a locus on chromosome 12 reported in late-onset AD, and is therefore a good candidate gene for dementia. A series of 242 patients from Norway diagnosed clinically with dementia were included in the study, the majority were diagnosed with AD. Individuals were screened for the presence of seven known pathogenic mutations previously reported in the LRRK2 gene. We did not identify LRRK2 mutations in our series of dementia patients, indicating that known pathogenic mutations are not common in patients clinically diagnosed with AD. However, these results do not exclude a possible role of other genetic variants within the LRRK2 gene in AD or other forms of dementia.
authors.affiliation: Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, FL, USA. mathias.toft@ntnu.no
authors.forename: Mathias
authors.initials: M
authors.lastname: Toft
authors.forename: Sigrid Botne
authors.initials: SB
authors.lastname: Sando
authors.forename: Stacey
authors.initials: S
authors.lastname: Melquist
authors.forename: Owen A
authors.initials: OA
authors.lastname: Ross
authors.forename: Linda R
authors.initials: LR
authors.lastname: White
authors.forename: Jan O
authors.initials: JO
authors.lastname: Aasly
authors.forename: Matthew J
authors.initials: MJ
authors.lastname: Farrer
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000544:Alzheimer Disease / Q000235:genetics* / Q000503:physiopathology; D002881:Chromosomes, Human, Pair 12; D005260:Female; D006801:Humans; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009483:Neuropsychological Tests; D010300:Parkinson Disease / Q000235:genetics; D011110:Polymorphism, Genetic; D017346:Protein Serine-Threonine Kinases / Q000235:genetics* / Q000378:metabolism
chemical_list: C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases