Symptoms

1. Paroxysmal attacks of ataxia lasting hours to days.  These are associated with vertigo, dizziness, headache, and oscillopsia.
2. Central oculomotor dysfunction and nystagmus

The attacks may be provoked by: exercise, sport, stress, and alcohol.
Age of onset: late childhood

Examination findings

Clinical findings between attacks: nystagmus (most often downbeat),and cerebellar ataxia.

Special investigations

MRI: cerebellar atrophy (vermis)

Prognosis

The clinical course is often slow progression of the ataxia.

Pathogenesis

Mutations of the CACNA1A calcium channel gene on chromosome 19.

Therapy

Treatment options include acetazolamide, and 4-aminopyridine, which may increase the release of GABA in the Purkinje cell.
 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

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