Abstract
Referral-based studies indicate that a mutation (G2019S) in exon 41 of the LRRK2 gene might be a common cause of Parkinson disease (PD). The authors sequenced leucine-rich repeat kinase 2 (LRRK2) exons 31, 35, and 41 in 371 consecutively recruited patients with PD and found mutations in six (1.6%) subjects, including two heterozygous for new putative pathogenic variants (R1441H, IVS31 + 3A-->G). These data confirm the important contribution of LRRK2 to PD susceptibility in a clinic-based population.
Publication types
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Research Support, N.I.H., Extramural
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, Non-P.H.S.
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Aged
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DNA Mutational Analysis
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Exons / genetics
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Family Health
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Female
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Gene Frequency / genetics
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Genetic Predisposition to Disease / genetics*
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Genetic Testing
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Genotype
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Heterozygote
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Homozygote
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Humans
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Leucine-Rich Repeat Serine-Threonine Protein Kinase-2
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Male
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Middle Aged
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Mutation / genetics*
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Parkinson Disease / genetics*
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Parkinson Disease / metabolism
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Pedigree
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Protein Serine-Threonine Kinases / genetics*
Substances
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LRRK2 protein, human
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Leucine-Rich Repeat Serine-Threonine Protein Kinase-2
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Protein Serine-Threonine Kinases