Article
Premutations in the FMR1 gene in Serbian patients with undetermined tremor, ataxia and parkinsonism.
Neurological research - 1 Apr 2021
Pešić Milica, Dragašević Mišković Nataša, Marjanović Ana, Dobričić Valerija, Maksimović Nela, Svetel Marina, Perović Dijana, Novaković Ivana, Cirković Sanja, Stanković Iva, Kostić Vladimir
Abstract excerpt
Introduction: Although one of the most common monogenic late-onset neurodegenerative disorders, fragile-X-associated tremor/ataxia syndrome (FXTAS) is still underdiagnosed. The aim of the present study was to estimate the frequency of premutation carriers in patients with unexplained degenerative ataxias, action tremor or parkinsonism, and action tremor with or without associated cognitive impairment.Methods: The...
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