DYT9: Choreoathetosis/spasticity, episodic (CSE)
Evidence-based neurology checklist on dyt9: choreoathetosis/spasticity, episodic (cse): Genetics This is caused by mutations in the SLC21A gene on chromosome 1 The gene encodes glucose transporter type 1 (GLUT1) The transmission is autosomal dominant Clinical features Triggers for episodes…
Genetics
- This is caused by mutations in the SLC21A gene on chromosome 1
- The gene encodes glucose transporter type 1 (GLUT1)
- The transmission is autosomal dominant
Clinical features
Triggers for episodes
Associated features
Treatment
Synonym
References
- Weber YG, Kamm C, Suls A, et al. Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect. Neurology 2011; 77:959-964.
- Auburger G, Ratzlaff T, Lunkes A, et al. A gene for autosomal dominant paroxysmal choreoathetosis/spasticity (CSE) maps to the vicinity of a potassium channel gene cluster on chromosome 1p, probably within 2 cM between D1S443 and D1S197. Genomics 1996; 31:90-94.
- Bain PG, O'Brien MD, Keevil SF, Porter DA. Familial periodic cerebellar ataxia: a problem of cerebellar intracellular pH homeostasis. Ann Neurol 1992; 31:147-154.
Related checklists
- DYT1: Early onset primary dystonia
- DYT2: Autosomal recessive torsion dystonia
- DYT3: X-linked dystonia (Lubag)
- DYT4: Whispering dysphonia
- DYT5: Dopa-responsive dystonia (DRD): clinical features
- DYT5: Dopa-responsive dystonia (DRD): variants and differentials
- DYT5: Dopa-responsive dystonia (DRD): management
- DYT6: Adult onset mixed torsion dystonia
- DYT7: Focal adult onset torsion dystonia
- DYT8: Paroxysmal non-kinesigenic dyskinesia 1 (PNKD1)
- DYT10: Paroxysmal kinesigenic dyskinesia 1 (PKD1)
- DYT11: Myoclonus dystonia: clinical features
- DYT11: Myoclonus dystonia: management
- DYT12: Rapid onset dystonia-parkinsonism (RDP)
- DYT13: Familial cranio-cervical dystonia
- DYT14: Dystonia 14
