A clinic-based study of the LRRK2 gene in Parkinson disease yields new mutations.
cross_sectional · Level IV
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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.
Medical subject headings
- Genetic Predisposition to Disease
- Mutation
- Parkinson Disease
- Protein Serine-Threonine Kinases