G2019S mutation in the leucine-rich repeat kinase 2 gene is not associated with multiple system atrophy.
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.
Ozelius
Laurie J
LJ
Department of Molecular Genetics, Albert Einstein College of Medicine, Bronx, New York, USA.
Foroud
Tatiana
T
May
Susanne
S
Senthil
Geetha
G
Sandroni
Paola
P
Low
Phillip A
PA
Reich
Stephen
S
Colcher
Amy
A
Stern
Matthew B
MB
Ondo
William G
WG
Jankovic
Joseph
J
Huang
Neng
N
Tanner
Caroline M
CM
Novak
Peter
P
Gilman
Sid
S
Marshall
Frederick J
FJ
Wooten
G Frederick
GF
Chelimsky
Thomas C
TC
Shults
Clifford W
CW
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
C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases