Neufeld M Y, Nisipeanu P, Chistik V, Korczyn A D
Department of Neurology, Tel-Aviv Elias Sourasky Medical Center, Israel.
Mov Disord. 1996 May;11(3):283-8. doi: 10.1002/mds.870110312.
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.
乙酰唑胺敏感性周期性共济失调（ARPA）是一种罕见的运动障碍，其特征为眩晕、小脑共济失调和眼球震颤反复发作，最近已在基因层面得到明确。其病理生理学尚不清楚，但可能并非癫痫性的。根据定义，乙酰唑胺可显著缓解症状。由于该疾病具有阵发性特点，因此经常进行脑电图描记。我们报告了4例典型ARPA的新病例（2例家族性和2例散发性，均无代谢异常或持续性肌肉电活动），并回顾了与该疾病相关的脑电图检查结果。18个家族和9例散发性病例（包括我们的病例）报告了脑电图检查结果。140例受影响病例中有54例进行了脑电图检查，其中52%（28/54）异常。最常见的是间歇性广泛性慢波活动，见于35%（19/54），常与棘波混合（10例）。其他异常包括7例（13%）非特异性轻度广泛性或局灶性慢波以及2例（4%）患者的局灶性癫痫样活动。ARPA中常见的阵发性脑电图活动不应作为癫痫的诊断依据。虽然不具有特异性，但它可能提示正确的诊断并表明可使用乙酰唑胺进行治疗。
