title: Lrrk2 R1441 substitution and progressive supranuclear palsy.
abstract: Mutation of the LRRK2 gene has been associated with autosomal dominant parkinsonism. An R1441C pathogenic substitution was identified in Family D, a large Western Nebraskan kindred, with four members demonstrating pleomorphic pathology at autopsy. One member of this family displayed tau pathology suggestive of progressive supranuclear palsy (PSP). To evaluate the influence of mutation at the R1441 residue in this disorder we screened a series of 242 pathologically confirmed PSP cases. No evidence was found for the presence of a mutation at this codon in our series. These data would suggest that this Lrrk2 variant does not contribute in susceptibility to PSP.
authors.affiliation: Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, FL 32224, USA. ross.owen@mayo.edu
authors.forename: O A
authors.initials: OA
authors.lastname: Ross
authors.forename: A J
authors.initials: AJ
authors.lastname: Whittle
authors.forename: S A
authors.initials: SA
authors.lastname: Cobb
authors.forename: M M
authors.initials: MM
authors.lastname: Hulihan
authors.forename: S J
authors.initials: SJ
authors.lastname: Lincoln
authors.forename: M
authors.initials: M
authors.lastname: Toft
authors.forename: M J
authors.initials: MJ
authors.lastname: Farrer
authors.forename: D W
authors.initials: DW
authors.lastname: Dickson
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D001921:Brain / Q000473:pathology*; D020022:Genetic Predisposition to Disease; D006801:Humans; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D008875:Middle Aged; D009154:Mutation; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D013494:Supranuclear Palsy, Progressive / Q000235:genetics*
chemical_list: C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases