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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

Institucijski repozitorij: Dr Med - digitalni repozitorij Medicinskog fakulteta Sveučilišta u Zagrebu

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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 i 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, i 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]. 10.11.2023. [pristupljeno 28.04.2024.];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, Studeni 2023. [Online]. Dostupno na: https://urn.nsk.hr/urn:nbn:hr:105:275110. [Citirano: 28.04.2024.]

Za citiranje koristite ovu mrežnu adresu: https://urn.nsk.hr/urn:nbn:hr:105:275110
Podaci o radu
Naslov (engleski)Applicability of clinical genetic testing for deep brain stimulation treatment in monogenic Parkinson’s disease and monogenic dystonia: a multidisciplinary team perspective
AutorValentino Rački
AutorMario Hero
AutorEliša Papić
AutorGloria Rožmarić
AutorNada Starčević Čizmarević
AutorDarko Chudy
AutorBorut Peterlin
AutorVladimira Vuletić
Autorova ustanovaSveučilište u Zagrebu
Medicinski fakultet
(KATEDRA ZA KIRURGIJU)
Znanstveno / umjetničko
područje, polje i grana		BIOMEDICINA I ZDRAVSTVO
Kliničke medicinske znanosti
Kirurgija
Sažetak (engleski)
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.
Ključne riječi (engleski)
Jezikengleski
Vrsta publikacijeZnanstveni rad - Izvorni znanstveni rad
Status objaveObjavljen
Vrsta recenzijeRecenziran
Verzija publikacijeObjavljena verzija rada (izdavačev PDF)
Naslov časopisaFrontiers in Neuroscience
Brojčani podacivol. 17, 1282267
e-ISSN1662-453X
DOIhttps://doi.org/10.3389/fnins.2023.1282267
URN:NBNurn:nbn:hr:105:275110
Datum objave publikacije2023-11-10
URL dokumentahttps://www.frontiersin.org/articles/10.3389/fnins.2023.1282267/full
Vrsta resursaTekst
Prava pristupaOtvoreni pristup
Uvjeti korištenjaIkona licence Imenovanje 4.0 međunarodna (CC BY 4.0)
Datum i vrijeme pohrane2024-03-12 08:56:07