Neural endophenotypes and predictors of laryngeal dystonia penetrance and manifestation.

ABSTRACT: Focal dystonias are the most common forms of isolated dystonia; however, the etiopathophysiological signatures of disorder penetrance and clinical manifestation remain unclear. Using an imaging genetics approach, we investigated functional and structural representations of neural endophenotypes underlying the penetrance and manifestation of laryngeal dystonia in families, including 21 probands and 21 unaffected relatives, compared to 32 unrelated healthy controls. We further used a supervised machine-learning algorithm to predict the risk for dystonia development in susceptible individuals based on neural features of identified endophenotypes. We found that abnormalities in prefrontal-parietal cortex, thalamus, and caudate nucleus were commonly shared between patients and their unaffected

SUBMITTER: Khosravani S 

PROVIDER: S-EPMC8284879 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature