Authors
Ziv Gan-Or, Laurie J Ozelius, Anat Bar-Shira, Rachel Saunders-Pullman, Anat Mirelman, Ruth Kornreich, Mali Gana-Weisz, Deborah Raymond, Liron Rozenkrantz, Andres Deik, Tanya Gurevich, Susan J Gross, Nicole Schreiber-Agus, Nir Giladi, Susan B Bressman, Avi Orr-Urtreger
Publication date
2013/4/23
Journal
Neurology
Volume
80
Issue
17
Pages
1606-1610
Publisher
Lippincott Williams & Wilkins
Description
Objective
To study the possible association of founder mutations in the lysosomal storage disorder genes HEXA, SMPD1, and MCOLN1 (causing Tay-Sachs, Niemann-Pick A, and mucolipidosis type IV diseases, respectively) with Parkinson disease (PD).
Methods
Two PD patient cohorts of Ashkenazi Jewish (AJ) ancestry, that included a total of 938 patients, were studied: a cohort of 654 patients from Tel Aviv, and a replication cohort of 284 patients from New York. Eight AJ founder mutations in the HEXA, SMPD1, and MCOLN1 genes were analyzed. The frequencies of these mutations were compared to AJ control groups that included large published groups undergoing prenatal screening and 282 individuals matched for age and sex.
Results
Mutation frequencies were similar in the 2 groups of patients with PD. The SMPD1 p.L302P was strongly associated with a highly increased risk for PD (odds ratio 9.4, 95 …
Total citations
Scholar articles
Z Gan-Or, LJ Ozelius, A Bar-Shira… - Neurology, 2013