RESUMO
AIM: This work investigates the prevalence of G2019S mutation of the leucine-rich repeat kinase 2 (LRRK2) gene in a cohort of Egyptian patients with sporadic Parkinson's disease (PD) and its relation to various features of the disease. MATERIALS AND METHODS: The study included 113 patients with sporadic PD and 87 healthy individuals as a control group. Clinical assessment was done using the Unified PD Rating Scale (UPDRS) and staging of PD was done according to Hoehn-Yahr score. The G2019S mutation was detected by polymerase chain reaction (PCR) followed by restriction digestion; results were confirmed using a 5' nuclease allelic discrimination real-time PCR method. RESULTS: The G2019S mutation was detected in 11 patients (9.7%) with PD, all of whom were heterozygous, but it was not present in any of the controls. Among PD patients, carriers of the G2019S mutation had significantly higher UPDRS motor score and a higher score for resting tremor than noncarriers (p=0.019 and p=0.004, respectively). CONCLUSIONS: The G2019S mutation in the LRRK2 gene is quite common in Egyptian patients with sporadic PD. The mutation is associated with a higher degree of motor effect but does not seem to affect mentation or behavioral aspects of the disease.