Dystonia is one of the most common movement disorders. This is the first study that covers dystonia families from Turkey, the population of which is known to be a mixture of populations from the Middle East, the Caucasus, the Balkans, Central Asia, and Europe. We identified potentially disease-causing variants in the established dystonia genes (PRKRA, SGCE, KMT2B, SLC2A1, GCH1, THAP1, HPCA, TSPOAP1, AOPEP; n=11 families [26%]), in the uncommon forms of dystonia-associated genes (PCCB, CACNA1A, ALDH5A1, PRKN; n=4 families [10%]), and in the candidate genes (n=11 families [21%]). Several pathways and gene ontologies implicated in immune system, transcription, metabolic pathways, endosomal-lysosomal, and neurodevelopmental mechanisms were overrepresented in our analyses. (By Dr Ebba Lohmann, https://jmg.bmj.com/content/early/2024/03/08/jmg-2022-109099 )
Dissecting Genetic Architecture of Rare Dystonia: Genetic, Molecular and Clinical Insights
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