Article
GNAL mutation in isolated laryngeal dystonia.
Movement disorders : official journal of the Movement Disorder Society - 1 May 2016
Putzel Gregory G, Fuchs Tania, Battistella Giovanni, Rubien-Thomas Estee, Frucht Steven J, Blitzer Andrew, Ozelius Laurie J, Simonyan Kristina
Abstract excerpt
BACKGROUND: Up to 12% of patients with laryngeal dystonia report a familial history of dystonia, pointing to involvement of genetic factors. However, its genetic causes remain unknown. METHOD: Using Sanger sequencing, we screened 57 patients with isolated laryngeal dystonia for mutations in known dystonia genes TOR1A (DYT1), THAP1 (DYT6), TUBB4A (DYT4), and GNAL (DYT25). Using functional MRI, we explored the...
Topics
- Aged
- Cerebellum
- Cerebral Cortex
- Dysphonia
- Female
- GTP-Binding Protein alpha Subunits
- Humans
- Male
- Middle Aged
- Mutation