Bouchard J P, Roberge C, van Gelder N M, Barbeau A
Can J Neurol Sci. 1984 Nov;11(4 Suppl):550-3. doi: 10.1017/s0317167100035022.
Two cases, a father and son, of recurrent cerebellar ataxia in the same family are reported, suggesting a familial trait for the dysfunction. In the older male the onset of each episode (30-90 min.) was signalled by dysarthria which then progressed towards gait ataxia; the son presented closely similar clinical symptoms. Physical examination and blood chemistry revealed no obvious neurological deficit or biochemical abnormalities, with the exception of I-III and III-IV evoked auditory wave interpeak latencies, which were found markedly abnormal on the left side in the father but not in the son; the EEG of both individuals showed some diffuse, slow wave abnormalities. A low dose of acetazolamide, 250 mg daily, has successfully repressed recurrence of the attacks over the past six months. Temporary withdrawal for 14 days of the carbonic anhydrase inhibitor in the father coincided with two observed ataxic episodes.
本文报道了同一家族中父子两人反复出现小脑共济失调的病例，提示该功能障碍具有家族性特征。在年长男性中，每次发作（30 - 90分钟）以构音障碍为信号开始，随后进展为步态共济失调；儿子表现出极为相似的临床症状。体格检查和血液生化检查未发现明显的神经功能缺损或生化异常，但父亲左侧的Ⅰ - Ⅲ和Ⅲ - Ⅳ听觉诱发电位波峰间潜伏期明显异常，儿子则无此异常；两人的脑电图均显示出一些弥漫性慢波异常。在过去六个月中，每天服用低剂量（250毫克）的乙酰唑胺成功抑制了发作的复发。父亲停用碳酸酐酶抑制剂14天期间，观察到两次共济失调发作。
