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Updated: May 23, 2026
08:51
Cerebellar Regional Dissection for Molecular Analysis
Published on: December 5, 2020
Familial episodic ataxia type II.
K Mugundhan1, K Thiruvarutchelvan, S Sivakumar
1Dept of Neurology, Govt. Mohan Kumaramangalam Medical College Hospital, Salem, Tamil Nadu.
The Journal of the Association of Physicians of India
|April 7, 2012
Summary
Familial episodic ataxia type II, a rare genetic disorder, was effectively treated with acetazolamide. This intervention led to sustained symptom relief and normal cerebellar function in affected individuals over a two-year period.
Area of Science:
- Neurology
- Genetics
- Pharmacology
Background:
- Familial episodic ataxia type II (EA2) is a rare, autosomal dominant neurological disorder.
- Characterized by recurrent episodes of ataxia and potential cerebellar dysfunction between attacks.
Observation:
- A family presented with features consistent with EA2, including cerebellar atrophy observed via MRI.
- Affected family members exhibited symptoms of episodic ataxia.
Findings:
- All affected individuals responded positively to treatment with acetazolamide, a carbonic anhydrase inhibitor.
- Acetazolamide treatment resulted in complete resolution of ataxia symptoms.
Implications:
- Acetazolamide is a promising therapeutic option for managing familial episodic ataxia type II.
- Long-term treatment with acetazolamide appears to maintain symptom control and prevent cerebellar degeneration.
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