title: G2019S mutation in the leucine-rich repeat kinase 2 gene is not associated with multiple system atrophy.
abstract: Multiple system atrophy (MSA) is characterized clinically by Parkinsonism, cerebellar dysfunction, and autonomic impairment. Multiple mutations in the LRRK2 gene are associated with parkinsonian disorders, and the most common one, the G2019S mutation, has been found in approximately 1% of sporadic cases of Parkinsonism. In a well-characterized cohort of 136 subjects with probable MSA and 110 neurologically evaluated control subjects, none carried the G2019S mutation. We conclude that the G2019S mutation in the LRRK2 gene is unlikely to be associated with MSA.
authors.affiliation: Department of Molecular Genetics, Albert Einstein College of Medicine, Bronx, New York, USA.
authors.forename: Laurie J
authors.initials: LJ
authors.lastname: Ozelius
authors.forename: Tatiana
authors.initials: T
authors.lastname: Foroud
authors.forename: Susanne
authors.initials: S
authors.lastname: May
authors.forename: Geetha
authors.initials: G
authors.lastname: Senthil
authors.forename: Paola
authors.initials: P
authors.lastname: Sandroni
authors.forename: Phillip A
authors.initials: PA
authors.lastname: Low
authors.forename: Stephen
authors.initials: S
authors.lastname: Reich
authors.forename: Amy
authors.initials: A
authors.lastname: Colcher
authors.forename: Matthew B
authors.initials: MB
authors.lastname: Stern
authors.forename: William G
authors.initials: WG
authors.lastname: Ondo
authors.forename: Joseph
authors.initials: J
authors.lastname: Jankovic
authors.forename: Neng
authors.initials: N
authors.lastname: Huang
authors.forename: Caroline M
authors.initials: CM
authors.lastname: Tanner
authors.forename: Peter
authors.initials: P
authors.lastname: Novak
authors.forename: Sid
authors.initials: S
authors.lastname: Gilman
authors.forename: Frederick J
authors.initials: FJ
authors.lastname: Marshall
authors.forename: G Frederick
authors.initials: GF
authors.lastname: Wooten
authors.forename: Thomas C
authors.initials: TC
authors.lastname: Chelimsky
authors.forename: Clifford W
authors.initials: CW
authors.lastname: Shults
mesh_terms: D002531:Cerebellum / Q000473:pathology; D005260:Female; D015870:Gene Expression / Q000235:genetics; D006801:Humans; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D008297:Male; D008875:Middle Aged; D019578:Multiple System Atrophy / Q000453:epidemiology* / Q000473:pathology; D020734:Parkinsonian Disorders / Q000453:epidemiology / Q000235:genetics*; D017354:Point Mutation / Q000235:genetics*; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D012307:Risk Factors
chemical_list: C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases