title: Parkinsonism, Lrrk2 G2019S, and tau neuropathology.
abstract: Lrrk2 G2019S is predominantly associated with alpha-synuclein-immunopositive Lewy body pathology. We have identified Family SK where Lrrk2 G2019S segregates with slowly progressive parkinsonism and the affected proband has tau-immunopositive neurofibrillary tangle pathology. Thus alpha-synucleinopathy and tauopathy, the predominant pathologies associated with parkinsonism, may be alternate outcomes of the same underlying genetic cause. Intriguingly, we observe no evidence of a direct interaction between either the tau or alpha-synuclein protein with Lrrk2.
authors.affiliation: Division of Neurology, University of Saskatchewan and Saskatoon Health Region, Saskatoon, Saskatchewan, Canada.
authors.forename: A
authors.initials: A
authors.lastname: Rajput
authors.forename: D W
authors.initials: DW
authors.lastname: Dickson
authors.forename: C A
authors.initials: CA
authors.lastname: Robinson
authors.forename: O A
authors.initials: OA
authors.lastname: Ross
authors.forename: J C
authors.initials: JC
authors.lastname: Dächsel
authors.forename: S J
authors.initials: SJ
authors.lastname: Lincoln
authors.forename: S A
authors.initials: SA
authors.lastname: Cobb
authors.forename: M L
authors.initials: ML
authors.lastname: Rajput
authors.forename: M J
authors.initials: MJ
authors.lastname: Farrer
mesh_terms: D000368:Aged; D001921:Brain / Q000378:metabolism / Q000473:pathology; D002460:Cell Line; D004185:Disability Evaluation; D018450:Disease Progression; D005260:Female; D005998:Glycine; D006801:Humans; D007150:Immunohistochemistry; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D008297:Male; D008875:Middle Aged; D009154:Mutation; D016874:Neurofibrillary Tangles / Q000378:metabolism* / Q000473:pathology; D020734:Parkinsonian Disorders / Q000235:genetics* / Q000473:pathology* / Q000503:physiopathology; D010375:Pedigree; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D012694:Serine; D051844:alpha-Synuclein / Q000378:metabolism; D016875:tau Proteins / Q000378:metabolism*
chemical_list: D051844:alpha-Synuclein; D016875:tau Proteins; D012694:Serine; C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases; D005998:Glycine