Generalized Dystonia With Cervical Predominance in a Patient With a De Novo TCF20 Variant.

Abstract

TCF20 has been implicated in developmental delay and intellectual disability, with dystonia reported less frequently. We describe a woman in her early twenties with childhood-onset learning difficulties, progressive dysarthria, tremor, and generalized dystonia with marked cervical predominance, associated with a de novo TCF20 frameshift variant identified by whole genome sequencing. Quantitative brain MRI demonstrated numerically increased globus pallidus susceptibility and reduced volume compared with controls, without clear evidence of iron accumulation. This case further supports generalized dystonia as a recognizable manifestation of TCF20-related disorders and suggests a possible link between TCF20 dysfunction and globus pallidus involvement in dystonia pathophysiology.