DYT9: Choreoathetosis/spasticity, episodic (CSE)

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

DYT9: Choreoathetosis/spasticity, episodic (CSE). This is caused by mutations in the SLC21A gene on chromosome 1. Fully referenced neurology checklist.

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

Locked: subscribe to see this section.

Triggers for episodes

Locked: subscribe to see this section.

Associated features

Locked: subscribe to see this section.

Treatment

Locked: subscribe to see this section.

Synonym

Locked: subscribe to see this section.

References

  1. Weber YG, Kamm C, Suls A, et al. Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect. Neurology 2011; 77:959-964. 
  2. 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.
  3. 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

Loading...