Session Information
Date: Wednesday, June 7, 2017
Session Title: Parkinson's Disease: Genetics
Session Time: 1:15pm-2:45pm
Location: Exhibit Hall C
Objective: To asses genetic impact on dosage of L-dopa/carbidopa treatment
Background:
L-dopa/carbidopa intestinal gel infusion (LCIG) is a method of continuous dopaminergic stimulation used in patients in advanced stages of Parkinson’s disease (PD) in order to reduce dyskinesia and off phenomenon. Personalized medicine which takes into account among other things, genetic information is gaining ground. Ashkenazi Jews (AJ) constitute a unique population to start implementing such genetic based personalized approach in PD since more than one third of AJ PD patients have a known mutation in either the GBA (8 mutations) or the LRRK2 (G2019S) genes. The aim of this study was to compare the response to LCIG among PD patients based on their carrier status with the hypothesis, that LRRK2 carriers would demonstrate a milder form of disease.
Methods: 44 PD patients underwent LCIG in the movement disorder unit of the Tel-Aviv Sourasky Medical Center since 2009. Genetic (GBA, LRRK2), demographic (age, gender) and clinical data (disease duration, list of medications, presence of hallucinations, dyskinesia, dementia, Unified Parkinson’s Disease Rating Scale (UPDRS), Hoehn and Yahr, Scwab and England) was collected through medical records. Levo-dopa equivalent dosage (LEDD) was calculated as customary.
Results: The average age was 69.5, average LEDD was 1739.9, 9/29 patients were female Genetic data was available on 29/44 patients. Seventeen patients did not carry any mutation; age 69.7 (10.2) LEDD 1849 (886). 5 were LRRK2 carriers; age 70.0 (16.1), LEDD 1382 (336), 4 were GBA heterozygotes; age 65.0 (7.2) LEDD 1864 (620), 2 were GBA homozygotes while another was a carrier of both GBA and LRRK2. No significant differences were found between the groups
Conclusions:
A personalized approach to the treatment of PD is in the making; however, we currently could not detect any between group differences among these three study groups we believe that this is mainly due to the underpowered nature of this study.
To cite this abstract in AMA style:
A. Thaler, A. Hillel, H. Shabtai, N. Giladi, T. Gurevich. Assessing the response to L-dopa/carbidopa intestinal gel infusion (Deudopa) based on genetic status. [abstract]. Mov Disord. 2017; 32 (suppl 2). https://www.mdsabstracts.org/abstract/assessing-the-response-to-l-dopacarbidopa-intestinal-gel-infusion-deudopa-based-on-genetic-status/. Accessed June 15, 2025.« Back to 2017 International Congress
MDS Abstracts - https://www.mdsabstracts.org/abstract/assessing-the-response-to-l-dopacarbidopa-intestinal-gel-infusion-deudopa-based-on-genetic-status/