A Clinic-Based Screening of Mutations in Exons 31, 34, 35, 41, and 48 of LRRK2 in Iranian Parkinson's Disease Patients

作者：Shojaee Seyedmehdi; Sina Farzad; Farboodi Niloofar; Fazlali Zeinab; Ghazavi Farzaneh; Ghorashi Seyed Ali; Parsa Khosro; Sadeghi Homa; Shahidi Gholam Ali; Ronaghi Mostafa; Elahi Elahe^*

来源：Movement Disorders, 2009, 24(7): 1023-1027.

DOI：10.1002/mds.22503

• Parkinson's disease
• LRRK2
• R1441C
• IVS31+3A > G
• sex ratio

We present results of mutation screening of exons 31, 34, 35, 41, and 48 of LRRK2 in 205 Iranian Parkinson's disease patients. Sixteen percent of the cases were familial. Although age was not a factor in patient recruitment, the Iranian cohort was relatively young (average age at onset of disease: 48.9 years). A notably high male to female ratio (2.96:1) and earlier age at onset (by 2.9 years) in men were observed. A known disease-associated variation, c. C4321T causing R1441C, and IVS31 + 3A > G, a variation that may be associated, were observed. Therefore, disregarding IVS31 + 3A > G, disease status in at least 0.5% of our young cohort and in 3.5% of the familial cases was associated with a mutation in the five exons of LRRK2 screened. Interestingly, the variation causing p.G2019S was not observed.

• 出版日期2009-5-15