Session Information
Date: Monday, September 23, 2019
Session Title: Genetics
Session Time: 1:45pm-3:15pm
Location: Les Muses Terrace, Level 3
Objective: Parkinson’s disease (PD) is a neurodegenerative disorder characterized by remarkable phenotypic variability. Accumulated evidence points that the manifestation of PD clinical signs might be differentially modified by genetic factors. Long-term treatment with levodopa is accompanied by motor fluctuations and dyskinesias, being the infusion therapies and deep brain stimulation (DBS) the effective therapies in more advanced stages. The objective of this study was to identify the mutational frequencies of multiple PD-causative genes in PD patients undergoing second line therapies.
Background: Parkinson’s disease (PD) is a neurodegenerative disorder characterized by remarkable phenotypic variability. Accumulated evidence points that the manifestation of PD clinical signs might be differentially modified by genetic factors. Long-term treatment with levodopa is accompanied by motor fluctuations and dyskinesias, being the infusion therapies and deep brain stimulation (DBS) the effective therapies in more advanced stages.
Method: We performed a prospective study in the movement disorders unit of a reference university hospital between 2007-2018. Mutations were identified by an integrated approach including gene dosage analysis, a targeted next-generation sequencing panel, repeat-primed polymerase chain reaction, and whole-exome sequencing analysis.We analyzed mutations in patients treated with DBS and levodopa-carbidopa intestinal infusion (LCII).
Results: A total of 149 were included with DBS and 54 patients with LCII. Mutations were more frequent in DBS patients than LCII group (26% vs 12.9%, p=0.04).In DBS group the most frequent mutations were in Parkin (5,3%), LRRK2 (6,71%) or GBA (5,3%).On the contrary, mutations in Parkin were not detected in the LCII group but mutations in GBA and LRRK2 were found in 5,5% of patients.
Conclusion: Our findings suggest that specific mutations in GBA, Parkin and LRRK2 influence the clinical signs of the disease, with significant implications for the selection of specific second line therapies.
To cite this abstract in AMA style:
F. Carrillo, S. Jesus, T. Periñan, R. Escuela, D. Buiza, MA. Labrador, M. Carrión, A. Adarmes, D. Macias, P. Gomez-Garre, P. Mir. Genetic study of patients with Parkinson’s disease subjected to second line therapies [abstract]. Mov Disord. 2019; 34 (suppl 2). https://www.mdsabstracts.org/abstract/genetic-study-of-patients-with-parkinsons-disease-subjected-to-second-line-therapies/. Accessed June 14, 2025.« Back to 2019 International Congress
MDS Abstracts - https://www.mdsabstracts.org/abstract/genetic-study-of-patients-with-parkinsons-disease-subjected-to-second-line-therapies/