伴有下跳性眼球震颤的遗传性小脑变性。1例病例及其治疗

Hereditary cerebellar degeneration with downbeat nystagmus. A case and it's treatment.

作者信息

McConnell H W, Darlington C L, Smith P F, Sturge D L, Thomson S D, Nukada H, Mair M W

机构信息

Department of Physiology, University of Otago, Dunedin, New Zealand.

出版信息

Acta Neurol Scand. 1990 May;81(5):423-6. doi: 10.1111/j.1600-0404.1990.tb00988.x.

DOI:10.1111/j.1600-0404.1990.tb00988.x

PMID:2375245

Abstract

We present a female patient of 48 years with downbeat nystagmus (DBN), moderate impairment of coordination testing and a family history of cerebellar ataxia. We report that a single 2 mg dose of clonazepam (following Currie & Matsuo) resulted in a virtual disappearance of nystagmus and of the patient's symptom of oscillopsia. This result is interpreted in terms of current models of DBN.

摘要

我们报告了一名48岁的女性患者，患有下跳性眼球震颤（DBN）、协调性测试中度受损以及小脑共济失调家族史。我们发现，单次服用2毫克氯硝西泮（按照Currie和Matsuo的方法）后，眼球震颤和患者的视振荡症状几乎完全消失。本文根据当前DBN的模型对此结果进行了解释。