Article
Clinical characteristics of THAP1 related dystonia: a case report with phenotypic review.
Neurogenetics - 2 Sept 2026
León Juan Sebastián Sánchez, Denicol Tais Luise, Dagostini Carolina Matte, Dos Santos Daniel Teixeira, Habekost Clarissa Troller, Hilbig Arlete, de Mello Rieder Carlos Roberto
Abstract excerpt
Dystonia is a movement disorder characterized by sustained or intermittent muscle contractions resulting in abnormal movements and postures. DYT-THAP1 is one of the most frequent genetic causes of generalized dystonia and may present with characteristic clinical features that help guide diagnostic suspicion before molecular confirmation. We report a 58-year-old man who developed dysphagia and dysarthria at 22...
Read the complete abstract on PubMedTopics
- Humans
- Male
- Middle Aged
- Phenotype
- Nuclear Proteins
- DNA-Binding Proteins