Session Time: 12:30pm-2:00pm
Location: Exhibit Hall located in Hall B, Level 2
Objective: To evaluate the frequency and characteristics of parkinsonism and Parkinson’s disease (PD) attributable to LRRK2 G2019S and Glucocerebrosidase1 (GBA1) mutations in Ashkenazi Jewish (AJ) research participants with PD evaluated at Mount Sinai Beth Israel (MSBI) an outpatient tertiary care center in New York.
Background: While the frequency of GBA1 mutations and LRRK2 mutations are known to be increased in AJ with PD, the percentage of carriers varies by site. Further, as LRRK2 knockout mice demonstrate weight loss, it is possible that weight might be increased in LRRK2 mutation carriers.
Methods: DNA from parkinsonism patients of AJ heritage consenting to genetics research at MSBI was screened for LRRK2 G2019S and N370S, L444P, 84GG, IVS2+1G→A, V394L, del55bp, D409H, R496H GBA1 mutations. Clinical features were compared between groups using t-tests. Linear regression models assessed body mass index (BMI) between groups adjusting for age at onset, gender, duration of disease and UPDRS I.
Results: Among all parkinsonism cases (415): 72 (17.4%) had LRRK2 mutations, 78 (18.8%) harbored one or more GBA1 mutations, of whom 7 (1.7%) had both. Among those who met UK Brain Bank criteria for IPD (352): 66 (18.8%) had LRRK2, 58 (19.3%) carried one or more GBA1 mutations, of whom 6 (1.7%) had both LRRK2 and GBA1. More LRRK2 were female (53.3%) than GBA1 PD (37.1%) or IPD (39.3%) (p=0.05). Age of onset was younger in both the LRRK2 (mean, sd) (57.3, 1.4) and GBA1 carriers (57.1, 1.3), than IPD (61.3, 0.8) (p<0.05), but not different from each other. At the earliest complete visit, duration of disease was longer in LRRK2 carriers (13.2, 7) than IPD (11.2, 6) (p=0.03), but not between GBA1 carriers (11.8, 5.9) and LRRK2 carriers or IPD. BMI was not different between LRRK2 (24.9, 3.7), GBA1 (25.3, 4.6) and IPD (25.3, 3.7).
Conclusions: The frequency of GBA1 mutations is similar to reports of frequency in other cohorts; however it is lower than an original report which suggested frequency of 30%. The male gender predominance was maintained in the GBA1 group, supporting that the gender effect is more similar to IPD than LRRK2 PD. Despite basic data suggesting that LRRK2 mutations might result in weight gain, BMI did not differ between either carrier groups or IPD.
To cite this abstract in AMA style:N. Doan, D. Raymond, R.A. Ortega, J. Ratliff, I. Meijer, J. Squires, S. Buckingham, B. Johannes, A. Vaigast, I. Perera, W.C. Nichols, L. Ozelius, J. Miravite, L. Severt, V. Shanker, N. Lubarr, S. Bressman, R. Saunders-Pullman. Frequency of GBA1 and LRRK2 G2019S mutations, and body mass index in Ashkenazi Jews [abstract]. Mov Disord. 2016; 31 (suppl 2). https://www.mdsabstracts.org/abstract/frequency-of-gba1-and-lrrk2-g2019s-mutations-and-body-mass-index-in-ashkenazi-jews/. Accessed November 29, 2023.
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MDS Abstracts - https://www.mdsabstracts.org/abstract/frequency-of-gba1-and-lrrk2-g2019s-mutations-and-body-mass-index-in-ashkenazi-jews/