Ebba Lohmann

This study uses exome sequencing to identify genetic variants in dystonia patients, finding 137 likely pathogenic variants in 51 genes and expanding the known phenotypic spectrum of dystonia-related genes.

The paper screens a Turkish dementia cohort for VCP variants and identifies a missense variant associated with prodromal dementia with Lewy bodies.

The paper identifies bi-allelic variants in TSPOAP1 as a cause of autosomal recessive dystonia, showing different clinical presentations based on variant type.