Slowed abduction during smooth pursuit eye movement in episodic ataxia type 2 with a novel CACNA1A mutation

• Slowed abduction during smooth pursuit (pursuit abduction lag) is rare. • This is the first case of EA2 presenting with pursuit abduction lag. • Our case exhibited cerebellar oculomotor signs and dissociated nystagmus. • Brainstem and cerebellar dysfunction could contribute to pursuit abduction la...
Ausführliche Beschreibung

• Slowed abduction during smooth pursuit (pursuit abduction lag) is rare. • This is the first case of EA2 presenting with pursuit abduction lag. • Our case exhibited cerebellar oculomotor signs and dissociated nystagmus. • Brainstem and cerebellar dysfunction could contribute to pursuit abduction lag. • A novel nonsense mutation might be associated with this rare phenotype. Ausführliche Beschreibung