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Review
. 2022;12(6):1703-1725.
doi: 10.3233/JPD-212986.

A Review on Response to Device-Aided Therapies Used in Monogenic Parkinsonism and GBA Variants Carriers: A Need for Guidelines and Comparative Studies

Philippe A Salles  1   2 , James Liao  1 , Umar Shuaib  1 , Ignacio F Mata  3 , Hubert H Fernandez  1
Affiliations
Review

A Review on Response to Device-Aided Therapies Used in Monogenic Parkinsonism and GBA Variants Carriers: A Need for Guidelines and Comparative Studies

Philippe A Salles et al. J Parkinsons Dis. 2022.

Abstract

Parkinson's disease (PD) is in some cases predisposed-or-caused by genetic variants, contributing to the expression of different phenotypes. Regardless of etiology, as the disease progresses, motor fluctuations and/or levodopa-induced dyskinesias limit the benefit of pharmacotherapy. Device-aided therapies are good alternatives in advanced disease, including deep brain stimulation (DBS), levodopa-carbidopa intestinal gel, and continuous subcutaneous infusion of apomorphine. Candidate selection and timing are critical for the success of such therapies. Genetic screening in DBS cohorts has shown a higher proportion of mutation carriers than in general cohorts, suggesting that genetic factors may influence candidacy for advanced therapies. The response of monogenic PD to device therapies is not well established, and the contribution of genetic information to decision-making is still a matter of debate. The limited evidence regarding gene-dependent response to device-aided therapies is reviewed here. An accurate understanding of the adequacy and responses of different mutation carriers to device-aided therapies requires the development of specific studies with long-term monitoring.

Keywords: Parkinson’s disease; apomorphine; deep brain stimulation; genetic disorders; infusion pumps; levodopa; parkinsonian disorders.

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Conflict of interest statement

Philippe Salles MD did not receive any specific grant from funding agencies in the public, commercial, or not-for-profit sectors.

James Liao MD did not receive any specific grant from funding agencies in the public, commercial, or not-for-profit sectors.

Umar Shuaib MD did not receive any specific grant from funding agencies in the public, commercial, or not-for-profit sectors.

Ignacio Mata MD

Grants/Research Support: Dr. Mata has received research support from American Parkinson’s Disease Association, Parkinson’s Foundation, Michael J. Fox Foundation, and NIH/NINDS

Hubert Fernandez MD

Grants/Research Support: Dr. Fernandez has received research support from Acorda Therapeutics, Alkahest, Amneal, Biogen, Michael J. Fox Foundation, Movement Disorders Society, NIH/NINDS, Parkinson Study Group, and Sunovion but has no owner interest in any pharmaceutical company.

Honoraria: Dr. Fernandez has received honoraria from Cleveland Clinic and Boston University as a speaker in CME events. Dr. Fernandez has received honoraria from Bial Neurology, Biopas, Cerevel, CNS Ratings, Denali Therapeutics, Kyowa Hakko Kirin, Pfizer, Partners Healthcare System, Parkinson Study Group, Revance, Sun Pharmaceutical Industries, Sunovion Research, and Development Trust as a consultant, and from Elsevier as the Co-Editor-In-Chief of Parkinsonism and Related Disorders Journal.

Royalty: Dr. Fernandez has received royalty payments from Demos Publishing and Springer for serving as a book author/editor.

Contractual Services: The Cleveland Clinic has a contract with Teva for Dr. Fernandez’s role as a Co-Principal Investigator in Deutetrabenazine for Tardive Dyskinesia global studies.

Figures

Fig. 1
Fig. 1
Key elements to consider when reporting the response to device-aided therapies in patients with monogenic parkinsonism or GBA variants carriers.
See this image and copyright information in PMC

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