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

Laurie J. Ozelius, Tatiana Foroud, Susanne May, Geetha Senthil, Paola Sandroni, Phillip A. Low, Stephen Reich, Amy Colcher, Matthew B. Stern, William G. Ondo, Joseph Jankovic, Neng Huang, Caroline M. Tanner, Peter Novak, Sid Gilman, Frederick J. Marshall, G. Frederick Wooten, Thomas C. Chelimsky, Clifford W. Shults, Eliezer MasliahWalter Kukull, Virginia Lee, John Trojanowski, Ira Shoulson, Laurie Ozelius

Research output: Contribution to journalArticlepeer-review

21 Scopus 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 ∼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.

Original languageEnglish (US)
Pages (from-to)546-549
Number of pages4
JournalMovement Disorders
Volume22
Issue number4
DOIs
StatePublished - Mar 15 2007

Keywords

  • LRRK2
  • Multiple system atrophy
  • Parkinsonism

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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