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Dystonia and deep brain stimulation: correlation between genetic mutation and clinical outcome

Gloria Rožmarić
Mario Hero
Valentino Rački
Eliša Papić
Vladimira Vuletić

Puni tekst: engleski pdf 240 Kb

str. 54-59

preuzimanja: 197



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.

Ključne riječi

Dystonia; Deep Brain Stimulation; Genetics

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