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眼睑下垂和球部症状:家族性肌萎缩侧索硬化症的一种不常见表型?

Ptosis and bulbar onset: an unusual phenotype of familial ALS?

机构信息

Department of Neurology, Eastern Piedmont University, Maggiore della Carità Hospital, Corso Mazzini 18, 28100, Novara, Italy.

Interdisciplinary Research Center of Autoimmune Diseases IRCAD, University of Eastern Piedmont, Novara, Italy.

出版信息

Neurol Sci. 2018 Feb;39(2):377-378. doi: 10.1007/s10072-017-3186-0. Epub 2017 Nov 13.

Abstract

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder of upper and lower motor neurons that usually spare the oculomotor nerves. Here, we describe a case of two siblings with a familial bulbar-onset ALS both with ptosis manifested at the onset of the disease.

摘要

肌萎缩侧索硬化症(ALS)是一种进行性神经退行性疾病,影响上下运动神经元,但通常不累及眼运动神经。在此,我们描述了两例具有家族性延髓起病 ALS 的同胞病例,他们在疾病发病时都表现出眼睑下垂。

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