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Related Experiment Videos

Familial periodic ataxia.

G J Hankey1, S S Gubbay

  • 1Department of Neurology, Royal Perth Hospital, WA.

The Medical Journal of Australia
|March 6, 1989
PubMed
Summary

Familial periodic ataxia, a rare inherited cerebellar disorder, causes recurrent vertigo and ataxia. Acetazolamide often provides therapeutic response for this benign condition.

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Area of Science:

  • Neurology
  • Genetics
  • Cerebellar Disorders

Background:

  • Familial periodic ataxia is a rare, dominantly inherited disorder affecting cerebellar function.
  • Characterized by recurrent episodes of vertigo and ataxia, it presents a diagnostic challenge due to normal initial investigations.

Observation:

  • A teenage girl presented with stereotyped episodes of vertigo and ataxia.
  • Constant horizontal gaze-evoked nystagmus was observed.
  • Cranial CT scans and metabolic screens were unremarkable.

Findings:

  • Diagnosis was confirmed through family history and examination, identifying familial periodic ataxia.
  • This condition is inherited in an autosomal dominant pattern.
  • The prognosis is generally benign.

Implications:

  • The pathophysiology of familial periodic ataxia requires further investigation.
  • Acetazolamide is frequently effective, suggesting potential therapeutic pathways.
  • Early diagnosis and management can improve patient outcomes for this rare ataxia.

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