Analysis of LRRK2 functional domains in nondominant Parkinson disease.
case_series · Level IV
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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.
Medical subject headings
- Genetic Predisposition to Disease
- Mutation
- Parkinson Disease
- Protein Serine-Threonine Kinases