Dissecting Genetic Architecture of Rare Dystonia: Genetic, Molecular and Clinical Insights

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 )

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