The electroencephalogram in acetazolamide-responsive periodic ataxia

Acetazolamide-responsive periodic ataxia (ARPA) is a rare movement disorder, characterized by recurrent episodes of vertigo, cerebellar ataxia, and nystagmus, which has recently been characterized genetically. The pathophysiology is unknown, but it is probably not epileptic. By definition, acetazolamide produces an impressive symptomatic relief. Because of the paroxysmal nature of the disorder, EEG tracings were often obtained. We report four new cases (two familial and two sporadic) with typical ARPA (none of whom had metabolic abnormalities or continuous electrical muscle activity) and review the EEG findings associated with this disorder. EEG findings were reported in 18 kindreds and nine sporadic cases (including ours). EEG was described in 54 of the 140 affected cases and was abnormal in 52% (28/54). Most commonly seen was intermittent generalized slow activity, observed in 35% (19/54), frequently intermingled with spikes (10 cases). Other abnormalities included nonspecific mild generalized or focal slowing in seven (13%) and focal epileptic activity in two (4%) patients. The paroxysmal EEG activity frequently seen in ARPA should not establish a diagnosis of epilepsy. Although not specific, it may suggest the correct diagnosis and indicate treatment with acetazolamide.