prikaz prve stranice dokumenta Dystonia and deep brain stimulation: correlation between genetic mutation and clinical outcome
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Scientific paper - Review paper
Dystonia and deep brain stimulation: correlation between genetic mutation and clinical outcome
Rad Hrvatske akademije znanosti i umjetnosti. Medicinske znanosti, 553 (2022), 60-61; 54-59. https://doi.org/10.21857/mnlqgcr6dy
Rožmarić, Gloria; Hero, Mario; Rački, Valentino; Papić, Eliša; Vuletić, Vladimira

Institutional repository: Repository of the University of Rijeka, Faculty of Medicine

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Rožmarić, G., Hero, M., Rački, V., Papić, E. & Vuletić, V. (2022). Dystonia and deep brain stimulation: correlation between genetic mutation and clinical outcome. Rad Hrvatske akademije znanosti i umjetnosti. Medicinske znanosti, 553. (60-61), 54-59. doi: 10.21857/mnlqgcr6dy

Rožmarić, Gloria, et al. "Dystonia and deep brain stimulation: correlation between genetic mutation and clinical outcome." Rad Hrvatske akademije znanosti i umjetnosti. Medicinske znanosti, vol. 553, no. 60-61, 2022, pp. 54-59. https://doi.org/10.21857/mnlqgcr6dy

Rožmarić, Gloria, Mario Hero, Valentino Rački, Eliša Papić and Vladimira Vuletić. "Dystonia and deep brain stimulation: correlation between genetic mutation and clinical outcome." Rad Hrvatske akademije znanosti i umjetnosti. Medicinske znanosti 553, no. 60-61 (2022): 54-59. https://doi.org/10.21857/mnlqgcr6dy

Rožmarić, G., et al. (2022) 'Dystonia and deep brain stimulation: correlation between genetic mutation and clinical outcome', Rad Hrvatske akademije znanosti i umjetnosti. Medicinske znanosti, 553(60-61), pp. 54-59. doi: 10.21857/mnlqgcr6dy

Rožmarić G, Hero M, Rački V, Papić E, Vuletić V. Dystonia and deep brain stimulation: correlation between genetic mutation and clinical outcome. Rad Hrvatske akademije znanosti i umjetnosti. Medicinske znanosti [Internet]. 2022 [cited 2024 November 09];553(60-61):54-59. doi: 10.21857/mnlqgcr6dy

G. Rožmarić, M. Hero, V. Rački, E. Papić and V. Vuletić, "Dystonia and deep brain stimulation: correlation between genetic mutation and clinical outcome", Rad Hrvatske akademije znanosti i umjetnosti. Medicinske znanosti, vol. 553, no. 60-61, pp. 54-59, 2022. [Online]. Available at: https://urn.nsk.hr/urn:nbn:hr:184:922083. [Accessed: 09 November 2024]

Metadata
Title (english)Dystonia and deep brain stimulation: correlation between genetic mutation and clinical outcome
AuthorGloria Rožmarić
AuthorMario Hero
AuthorValentino Rački
AuthorEliša Papić
AuthorVladimira Vuletić
Author's institution(Clinical Hospital Center Rijeka)
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Clinical Medical Sciences
Neurology
Abstract (english)
Dystonia is a movement disorder characterized by sustained or intermittent muscle contractions, leading to abnormal involuntary movements or postures. Although the pathogenesis of dystonia is not entirely understood, lack of intracortical inhibition, aberrant sensory integration and derangement of neural plasticity are known to contribute. Etiologically, dystonia can be idiopathic, acquired or heredi- tary, most commonly occurring with TOR1A, THAP1, GCH1, and KMT2B mutations. The clas- sification of dystonia is based on two main axes: clinical features (Axis I) and etiology (Axis II). When it comes to treatment a variety of therapeutic options are available, including oral medication therapy, intramuscular injections of botulinum neurotoxins (BoNTs), physical and occupational therapy and invasive neurosurgical treatment. Deep brain stimulation (DBS) is an established neurosurgical treat- ment for medication-refractory dystonia. As more evidence suggests that DBS treatment outcomes may be related to a hereditary basis, genotype determination is an important factor to consider in patient selection and prognostic counselling.
Keywords (english)
Languageenglish
Publication typeScientific paper - Review paper
Publication statusPublished
Peer reviewPeer review
Publication versionPublished version
Journal titleRad Hrvatske akademije znanosti i umjetnosti. Medicinske znanosti
Numberingvol. 553, no. 60-61, pp. 54-59
p-ISSN1330-5301
e-ISSN1848-641X
DOIhttps://doi.org/10.21857/mnlqgcr6dy
URN:NBNurn:nbn:hr:184:922083
Publication2022
Document URLhttps://hrcak.srce.hr/290809
Type of resourceText
Access conditionsOpen access
Terms of useLicence Attribution-NonCommercial 4.0 International (CC BY-NC 4.0) icon
Created on2023-01-10 12:44:05