Anat Mirelman1, Roy N Alcalay2,3, Rachel Saunders-Pullman4,5, Kira Yasinovsky1, Avner Thaler1, Tanya Gurevich1,6, Helen Mejia-Santana2, Deborah Raymond4, Mali Gana-Weisz7, Anat Bar-Shira7, Laurie Ozelius8, Lorraine Clark9,10, Avi Orr-Urtreger6,7, Susan Bressman4,5, Karen Marder2,3, Nir Giladi1,6,11. 1. Movement Disorders Unit, Department of Neurology, Tel-Aviv Medical Center, Department of Neurology, Israel. 2. College of Physicians and Surgeons, Columbia University, New York, NY, USA. 3. Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, NY, USA. 4. The Alan and Barbara Mirken Department of Neurology, Mount Sinai-Beth Israel Medical Center, New York, New York, USA. 5. Icahn School of Medicine at Mount Sinai, New York, NY, USA. 6. Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel. 7. Genetics Institute, Tel Aviv Sourasky Medical Center, Israel. 8. Departments of Genetics and Genomic Sciences and Neurology, Mount Sinai School of Medicine, New York, NY, USA. 9. Department of Pathology and Cell Biology, College of Physicians and Surgeons, Columbia University, New York, NY, USA. 10. Center for Human Genetics, College of Physicians and Surgeons, Columbia University, New York, NY, USA. 11. Sieratzki Chair in Neurology, Tel-Aviv University, New York, NY, USA.
Abstract
BACKGROUND: The asymptomatic carriers of the Leucine rich repeat kinase 2 (LRRK2) G2019S mutation represent a population at risk for developing PD. The aim of this study was to assess differences in nonmotor symptoms between nonmanifesting carriers and noncarriers of the G2019S mutation. METHODS: Two hundred fifty-three subjects participated in this observational cross-sectional multicenter study. Standard questionnaires assessing anxiety, depression, cognition, smell, nonmotor symptoms, and rapid eye movement (REM) sleep behavior were administered. Analyses were adjusted for age, sex, family relations, education, and site. RESULTS: One hundred thirty-four carriers were identified. Carriers had higher nonmotor symptoms score on the Nonmotor symptoms (NMS) questionnaire (P = 0.02). These findings were amplified in carriers older than age 50 y, with higher nonmotor symptoms scores and trait anxiety scores (P < 0.03). CONCLUSIONS: In this cross-section study, carriers of the G2019S LRRK2 mutation endorsed subtle nonmotor symptoms. Whether these are early features of PD will require a longitudinal study.
BACKGROUND: The asymptomatic carriers of the Leucine rich repeat kinase 2 (LRRK2) G2019S mutation represent a population at risk for developing PD. The aim of this study was to assess differences in nonmotor symptoms between nonmanifesting carriers and noncarriers of the G2019S mutation. METHODS: Two hundred fifty-three subjects participated in this observational cross-sectional multicenter study. Standard questionnaires assessing anxiety, depression, cognition, smell, nonmotor symptoms, and rapid eye movement (REM) sleep behavior were administered. Analyses were adjusted for age, sex, family relations, education, and site. RESULTS: One hundred thirty-four carriers were identified. Carriers had higher nonmotor symptoms score on the Nonmotor symptoms (NMS) questionnaire (P = 0.02). These findings were amplified in carriers older than age 50 y, with higher nonmotor symptoms scores and trait anxiety scores (P < 0.03). CONCLUSIONS: In this cross-section study, carriers of the G2019SLRRK2 mutation endorsed subtle nonmotor symptoms. Whether these are early features of PD will require a longitudinal study.
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