Kurlemann G, Hörnig I, Palm D G
Neuropädiatrische Abteilung, Universitäts-Kinderklinik Münster.
Monatsschr Kinderheilkd. 1988 Aug;136(8):462-3.
We report on a case of autosomal dominant periodic ataxia. So far, fourteen families have been described with this rare disease. An early diagnosis is important; the patients can be treated effectively with acetazolamide.
我们报告了一例常染色体显性遗传性发作性共济失调病例。迄今为止,已有14个家庭被描述患有这种罕见疾病。早期诊断很重要;患者可用乙酰唑胺进行有效治疗。