Adult-onset dystonia associated with CHD8 truncating variants: case series and targeted literature review.

Abstract excerpt

The CHD8 gene encodes a chromatin-remodeling protein critical for neural development and transcriptional regulation. Although CHD8 mutations are classically associated with autism spectrum disorder, macrocephaly, and intellectual disability, recent reports suggest that dystonia may also be part of this spectrum. Two unrelated female patients presenting with progressive dystonia were evaluated through detailed...

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