DYT-TUBB4A (DYT4 Dystonia): New Clinical and Genetic Observations.

Julien F BallySarah CamargosCamila Oliveira Dos SantosDrew S KernTeresa LeeFrancisco Pereira da Silva-JuniorRenato David PugaFrancisco CardosoEgberto Reis BarbosaRachita YadavLaurie J OzeliusPatricia de Carvalho AguiarAnthony E Lang

Published in: Neurology (2020)

Our interpretation is that laryngeal involvement is a hallmark feature of DYT-TUBB4A. Nevertheless, TUBB4A mutations remain an exceedingly rare cause of laryngeal or other isolated dystonia.

Keyphrases

deep brain stimulation
early onset
machine learning
genome wide
deep learning
dna methylation