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

Authors

Melisa Kilic, Petr Dusek, Ibrahim Kamaci, Bahar Gulmez, Gul Yalcin Cakmakli, Ersin Tan, Sibel Ugur Iseri, Zuhal Yapici

Published in

Annals of clinical and translational neurology. Oct 09, 2026. Epub Oct 09, 2026.

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.

PMID:
42855741
Bibliographic data and abstract were imported from PubMed on 10 Oct 2026.

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