From the Research
Episodic ataxia type 2 (EA2) is the form of episodic ataxia that is typically triggered by caffeine consumption. This rare neurological disorder is characterized by episodes of incoordination, imbalance, and slurred speech that can last from hours to days. In addition to caffeine, EA2 attacks can be precipitated by stress, exercise, alcohol, and fever. EA2 is caused by mutations in the CACNA1A gene, which encodes a calcium channel protein important for neuronal signaling in the cerebellum. The disorder typically begins in childhood or adolescence and may be accompanied by symptoms like vertigo, nausea, headache, and nystagmus during attacks. Between episodes, patients may have mild persistent ataxia and nystagmus. Some key points to consider in the management of EA2 include:
- Treatment typically involves acetazolamide (starting at 250 mg twice daily), which can reduce attack frequency and severity in many patients 1.
- For those who don't respond to acetazolamide, 4-aminopyridine (5-10 mg three times daily) may be effective 2, 3.
- Patients with EA2 should avoid caffeine consumption as part of their management strategy to prevent triggering attacks. It's also important to note that the pathophysiology of EA2 and the mechanism of action of treatments like acetazolamide and 4-aminopyridine are not fully understood and require further study 4, 5. However, based on the available evidence, avoiding caffeine consumption and using acetazolamide or 4-aminopyridine as needed can help manage the symptoms of EA2 and improve quality of life for patients with this condition.