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G2019S mutation in the leucine-rich repeat kinase 2 gene is not associated with multiple system atrophy. Mov Disord 2007 Mar 15;22(4):546-9

Date

01/19/2007

Pubmed ID

17230458

DOI

10.1002/mds.21343

Scopus ID

2-s2.0-34247276516   22 Citations

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.

Author List

Ozelius LJ, Foroud T, May S, Senthil G, Sandroni P, Low PA, Reich S, Colcher A, Stern MB, Ondo WG, Jankovic J, Huang N, Tanner CM, Novak P, Gilman S, Marshall FJ, Wooten GF, Chelimsky TC, Shults CW, North American Multiple System Atrophy Study Group

Author

Thomas C. Chelimsky MD Professor in the Neurology department at Medical College of Wisconsin




MESH terms used to index this publication - Major topics in bold

Cerebellum
Female
Gene Expression
Humans
Leucine-Rich Repeat Serine-Threonine Protein Kinase-2
Male
Middle Aged
Multiple System Atrophy
Parkinsonian Disorders
Point Mutation
Protein-Serine-Threonine Kinases
Risk Factors