LRRK2 mutations in a clinic-based cohort of Parkinson's disease |
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Authors: | S. Scholz R. J. Mandel H. H. Fernandez K. D. Foote R. L. Rodriguez E. Barton S. Munson A. Singleton M. S. Okun |
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Affiliation: | Molecular Genetics Unit, National Institute on Aging, National Institutes of Health, Bethsda, MD;;and Departments of Neurology and Neurosurgery, Movement Disorders Center, University of Florida, Gainesville, FL, USA |
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Abstract: | In the last decade, major breakthroughs in the understanding of genetic contributions to Parkinson's disease (PD) have been achieved. Recently, mutations in LRRK2 , encoding dardarin, have been found to be responsible for an autosomal dominant parkinsonism (OMIM 607060). We screened 311 subjects (cases: n = 202, controls: n = 109) for the three previously reported LRRK2 mutations. Our investigation revealed a sporadic case of PD with a heterozygous mutation G2019S (c.6055G>A). Here, we present the clinical phenotype of this patient and discuss the implications of genetic testing for the G2019S mutation in patients with sporadic PD. |
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Keywords: | dardarin G2019S LRRK2 Parkinson's disease |
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