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Scientific paper - Original scientific paper
Applicability of clinical genetic testing for deep brain stimulation treatment in monogenic Parkinson’s disease and monogenic dystonia: a multidisciplinary team perspective
Frontiers in Neuroscience, 17 (2023); 1282267. https://doi.org/10.3389/fnins.2023.1282267
Rački, Valentino; Hero, Mario; Papić, Eliša; Rožmarić, Gloria; Starčević Čizmarević, Nada; Chudy, Darko; Peterlin, Borut; Vuletić, Vladimira

Institutional repository: Dr Med - University of Zagreb School of Medicine Digital Repository

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Rački, V., Hero, M., Papić, E., Rožmarić, G., Starčević Čizmarević, N., Chudy, D. ... Vuletić, V. (2023). Applicability of clinical genetic testing for deep brain stimulation treatment in monogenic Parkinson’s disease and monogenic dystonia: a multidisciplinary team perspective. Frontiers in Neuroscience, 17.. doi: 10.3389/fnins.2023.1282267

Rački, Valentino, et al. "Applicability of clinical genetic testing for deep brain stimulation treatment in monogenic Parkinson’s disease and monogenic dystonia: a multidisciplinary team perspective." Frontiers in Neuroscience, vol. 17, 2023. https://doi.org/10.3389/fnins.2023.1282267

Rački, Valentino, Mario Hero, Eliša Papić, Gloria Rožmarić, Nada Starčević Čizmarević, Darko Chudy, Borut Peterlin and Vladimira Vuletić. "Applicability of clinical genetic testing for deep brain stimulation treatment in monogenic Parkinson’s disease and monogenic dystonia: a multidisciplinary team perspective." Frontiers in Neuroscience 17 (2023). https://doi.org/10.3389/fnins.2023.1282267

Rački, V., et al. (2023) 'Applicability of clinical genetic testing for deep brain stimulation treatment in monogenic Parkinson’s disease and monogenic dystonia: a multidisciplinary team perspective', Frontiers in Neuroscience, 17. doi: 10.3389/fnins.2023.1282267

Rački V, Hero M, Papić E, Rožmarić G, Starčević Čizmarević N, Chudy D, and sur.. Applicability of clinical genetic testing for deep brain stimulation treatment in monogenic Parkinson’s disease and monogenic dystonia: a multidisciplinary team perspective. Frontiers in Neuroscience [Internet]. 2023 November 10 [cited 2024 April 27];17. doi: 10.3389/fnins.2023.1282267

V. Rački, et al., "Applicability of clinical genetic testing for deep brain stimulation treatment in monogenic Parkinson’s disease and monogenic dystonia: a multidisciplinary team perspective", Frontiers in Neuroscience, vol. 17, November 2023. [Online]. Available at: https://urn.nsk.hr/urn:nbn:hr:105:275110. [Accessed: 27 April 2024]

Metadata
Title (english)Applicability of clinical genetic testing for deep brain stimulation treatment in monogenic Parkinson’s disease and monogenic dystonia: a multidisciplinary team perspective
AuthorValentino Rački
AuthorMario Hero
AuthorEliša Papić
AuthorGloria Rožmarić
AuthorNada Starčević Čizmarević
AuthorDarko Chudy
AuthorBorut Peterlin
AuthorVladimira Vuletić
Author's institutionUniversity of Zagreb
School of Medicine
(Department of Surgery)
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Clinical Medical Sciences
Surgery
Abstract (english)
In this perspective article, we highlight the possible applicability of genetic testing in Parkinson's disease and dystonia patients treated with deep brain stimulation (DBS). DBS, a neuromodulatory technique employing electrical stimulation, has historically targeted motor symptoms in advanced PD and dystonia, yet its precise mechanisms remain elusive. Genetic insights have emerged as potential determinants of DBS efficacy. Known PD genes such as GBA, SNCA, LRRK2, and PRKN are most studied, even though further studies are required to make firm conclusions. Variable outcomes depending on genotype is present in genetic dystonia, as DYT-TOR1A, NBIA/DYTPANK2, DYT-SCGE and X-linked dystonia-parkinsonism have demonstrated promising outcomes following GPi-DBS, while varying outcomes have been documented in DYT-THAP1. We present two clinical vignettes that illustrate the applicability of genetics in clinical practice, with one PD patient with compound GBA mutations and one GNAL dystonia patient. Integrating genetic testing into clinical practice is pivotal, particularly with advancements in next-generation sequencing. However, there is a clear need for further research, especially in rarer monogenic forms. Our perspective is that applying genetics in PD and dystonia is possible today, and despite challenges, it has the potential to refine patient selection and enhance treatment outcomes.
Keywords (english)
Languageenglish
Publication typeScientific paper - Original scientific paper
Publication statusPublished
Peer reviewPeer review
Publication versionPublished version
Journal titleFrontiers in Neuroscience
Numberingvol. 17, 1282267
e-ISSN1662-453X
DOIhttps://doi.org/10.3389/fnins.2023.1282267
URN:NBNurn:nbn:hr:105:275110
Publication2023-11-10
Document URLhttps://www.frontiersin.org/articles/10.3389/fnins.2023.1282267/full
Type of resourceText
Access conditionsOpen access
Terms of useLicence Attribution 4.0 International (CC BY 4.0) icon
Created on2024-03-12 08:56:07