Abstract
Essential tremor (ET) and Parkinson's disease (PD) are two of the most common adult onset movement disorders with overlapping clinical features. PD patients with leucine-rich repeat kinase-2 (LRRK2) mutations may present initially with an ET phenotype. To address the possibility of a common genetic link between ET and PD, we examined the association between a common LRRK2 R1628P gene variant and ET. The LRRK2 R1628P was genotyped in ET cases and matched healthy controls. A total of 1277 subjects comprising of 450 ET cases and 827 controls were included. There were 40 heterozygote (GG to CG) variant out of 450 ET cases (genotypic frequency 8.9%) and 36 heterozygote variant (GG to CG, genotypic frequency 4.3%) and one homozygote variant (GG to CC) out of 827 controls. Subjects carrying the R1628P variant had a twofold increased risk of ET (p = 0.0035, OR = 2.20 and 95% confidence interval is 1.30–3.73). Using a case control methodology, we demonstrated an association between a known PD risk variant, LRRK2 R1628P, with ET. Subjects carrying the R1628P variant had twice the risk of developing ET. The sharing of a similar gene risk variant suggests a possible pathophysiologic link between PD and ET.
Highlights
Essential tremor (ET) and Parkinson’s disease (PD) are two of the most common adult onset movement disorders with overlapping clinical features
To address the possibility of a common genetic link between ET and PD, we examined the association between a common leucine-rich repeat kinase-2 (LRRK2) R1628P gene variant and ET
A total of 1277 subjects comprising of 450 ET cases and 827 controls were included
Summary
Essential tremor (ET) and Parkinson’s disease (PD) are two of the most common adult onset movement disorders with overlapping clinical features. PD patients with leucine-rich repeat kinase-2 (LRRK2) mutations may present initially with an ET phenotype. To address the possibility of a common genetic link between ET and PD, we examined the association between a common LRRK2 R1628P gene variant and ET. A total of 1277 subjects comprising of 450 ET cases and 827 controls were included. Using a case control methodology, we demonstrated an association between a known PD risk variant, LRRK2 R1628P, with ET. The sharing of a similar gene risk variant suggests a possible pathophysiologic link between PD and ET. PD patients with leucine-rich repeat kinase-2 (LRRK2) mutations may present initially with an ET phenotype, suggesting a possible etiologic link[2]. To address the possibility of a common genetic link between ET and PD, we examined the association between LRRK2 R1628P and ET
Sign-in/Register to view highlights & summary Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
