Objective: The aim of this study was to characterize patients with Parkinson’s disease (PD) on Levodopa/carbidopa intestinal gel infusion (LCIG) treatment based on their genetic status, studying differences in inclusion characteristics and outcome.

Background: LCIG is a method for providing continuous dopaminergic stimulation for patients with advanced PD. Ashkenazi Jews (AJ) may constitute a unique population for implementing a personalized medicine approach of intervention since more than one third have mutations in either the GBA or the LRRK2 (G2019S) genes.

Method: Data from 69 AJ PD patients with known GBA and LRRK2 genetic status, who underwent LCIG treatment in 2 movement disorder services in Israel (Tel-Aviv Medical Center and Chaim Sheba Medical Center) since 2009, was included in the study. All patients were assessed after titration and stabilization of LCIG treatment. Demographic (age, gender) and clinical data regarding treatment with LCIG (disease duration, list of medications, presence of hallucinations, dyskinesia and dementia) as well as cognitive and motor assessments based on the Montreal Cognitive assessment (MoCA), the Unified Parkinson’s Disease Rating Scale (UPDRS) and the Hoehn and Yahr staging scale respectively, were collected from medical records. Levodopa equivalent dosage (LEDD) was calculated as customary. Three groups of PD patient based on genetic status were compared while correcting for disease duration, LEDD and gender.

Results: Sixteen LRRK2-PD, 11 GBA-PD and 42 idiopathic PD patients were included in this study. Groups did not differ in age of onset, disease duration, gender, time to initiating LCIG treatment, total LEDD, MoCA scores, and frequencies of dyskinesia or hallucinations. While total UPDRS scores did not differ between groups, motor UPDRS scores were significantly higher among GBA-PD compared to the two other groups of participant (Table 1).

Conclusion: Our findings may support the current concept of a more severe PD phenotype among carriers of GBA mutations. Although not reaching statistical significance, we postulate that GBA-PD were treated on lower doses of PD related medications due to the higher rates of hallucinations and lower cognitive scores.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/assessing-the-response-to-levodopa-carbidopa-intestinal-gel-infusion-based-on-genetic-status/