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Mov Disord. 2007 Mar 15;22(4):546-9.

G2019S mutation in the leucine-rich repeat kinase 2 gene is not associated with multiple system atrophy.

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  • 1Department of Molecular Genetics, Albert Einstein College of Medicine, Bronx, New York, USA.


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.

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