Abstract
A comprehensive sequence analysis of 29 exons that code for the functional domains of LRRK2 in 160 nondominant Parkinson disease (PD) patients was performed. Novel variant screening in a further 470 sporadic PD patients and 630 controls revealed two novel variants (R1067Q and IVS33 + 6 T>A), which are likely to be pathogenic in five patients. One patient presented initially with a typical essential tremor phenotype, expanding the phenotypic spectrum of LRRK2 mutations.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Adult
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Age of Onset
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Aged
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Aged, 80 and over
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Amino Acid Sequence / genetics
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Amino Acid Substitution / genetics
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DNA Mutational Analysis
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Exons / genetics
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Female
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Genetic Predisposition to Disease / genetics*
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Genetic Testing
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Genotype
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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 / ethnology
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Parkinson Disease / genetics*
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Parkinson Disease / metabolism
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Phenotype
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Point Mutation / genetics
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Protein Serine-Threonine Kinases / chemistry
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Protein Serine-Threonine Kinases / genetics*
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Protein Structure, Tertiary / genetics
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Racial Groups
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Sex Distribution
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