Authors
Karen Marder, Yuanjia Wang, Roy N Alcalay, Helen Mejia-Santana, Ming-Xin Tang, Annie Lee, Deborah Raymond, Anat Mirelman, Rachel Saunders-Pullman, Lorraine Clark, Laurie Ozelius, Avi Orr-Urtreger, Nir Giladi, Susan Bressman, LRRK2 Ashkenazi Jewish Consortium, Roy N Alcalay, Ming-X Tang, Helen Mejia Santana, Ernest Roos, Martha Orbe-Reilly, Stanley Fahn, Lucien Cote, Cheryl Waters, Pietro Mazzoni, Blair Ford, Elan Louis, Oren Levy, Llency Rosado, Diana Ruiz, Tsvyatko Dorovski, Paul Greene, Lorraine Clark, Karen S Marder, Tanya Gurevich, Anat Bar Shira, Mali Gana Weisz, Kira Yasinovsky, Maayan Zalis, Avner Thaler, Yaacov Balash, Shabtai Hertzel, Ziv Gan Or, Hila Kobo, Ariella Hillel, Anat Shkedy, Avi Orr-Urtreger, Nir Giladi, Andres Deik, Matthew J ames Barrett, Jose Cabassa, Mark Groves, Ann L Hunt, Naomi Lubarr, Marta San Luciano, Joan Miravite, Christina Palmese, Rivka Sachdev, Harini Sarva, Lawrence Severt, Vicki Shanker, Matthew Carrington Swan, Jeannie Soto-Valencia, Brooke Johannes, Robert Ortega, Laurie Ozelius, Rachel Saunders-Pullman, Deborah Raymond, Susan Bressman
Publication date
2015/7/7
Journal
Neurology
Volume
85
Issue
1
Pages
89-95
Publisher
Lippincott Williams & Wilkins
Description
Objective
Estimates of the penetrance of LRRK2 G2019S vary widely (24%–100%), reflective of differences in ascertainment, age, sex, ethnic group, and genetic and environmental modifiers.
Methods
The kin-cohort method was used to predict penetrance in 2,270 relatives of 474 Ashkenazi Jewish (AJ) Parkinson disease (PD) probands in the Michael J. Fox LRRK2 AJ Consortium in New York and Tel Aviv, Israel. Patients with PD were genotyped for the LRRK2 G2019S mutation and at least 7 founder GBA mutations. GBA mutation carriers were excluded. A validated family history interview, including age at onset of PD and current age or age at death for each first-degree relative, was administered. Neurologic examination and LRRK2 genotype of relatives were included when available.
Results
Risk of PD in relatives predicted to carry an LRRK2 G2019S mutation was 0.26 (95% confidence interval [CI] 0.18–0.36) to …
Scholar articles
K Marder, Y Wang, RN Alcalay, H Mejia-Santana… - Neurology, 2015