Acetazolamide-responsive episodic ataxia syndrome.

Area of Science:

• Neurology
• Genetics
• Metabolic Disorders

Background:

• Episodic ataxia syndromes are rare neurological disorders characterized by recurrent episodes of ataxia.
• Understanding the underlying mechanisms is crucial for developing effective treatments.

Observation:

• A kindred presented with episodic ataxia triggered by exertion or stress.
• Affected individuals experienced neurological symptoms including ataxia, paresthesia, weakness, headache, tinnitus, vertigo, and myotonia.
• Electroencephalograms revealed paroxysmal, high-amplitude, slow and sharp activity between attacks.

Findings:

• Acetazolamide completely prevented all symptoms in affected members.
• Serum pyruvate, lactate, and urinary amino acids were normal between attacks.
• Serum potassium levels remained normal during attacks, suggesting a non-electrolyte-based mechanism.

Implications:

• Acetazolamide is a highly effective treatment for this specific type of episodic ataxia.
• The metabolic abnormality appears to impact the cerebellum, brainstem, peripheral nerves, and muscle.
• Further research is needed to elucidate the precise metabolic defect and its molecular pathways.