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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.

DOI:10.1007/s10072-017-3186-0
PMID:29134445
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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本文引用的文献

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Amyotrophic lateral sclerosis and myasthenia gravis: association or chance occurrence?肌萎缩侧索硬化症与重症肌无力:关联还是偶发?
Neurol Sci. 2017 Mar;38(3):441-444. doi: 10.1007/s10072-016-2787-3. Epub 2016 Dec 2.
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A revision of the El Escorial criteria - 2015.《埃尔埃斯科里亚尔标准(2015年修订版)》
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Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
ERCC6L2 rs591486 多态性与希腊人群肌萎缩侧索硬化症的风险。
Neurol Sci. 2019 Jun;40(6):1237-1244. doi: 10.1007/s10072-019-03825-3. Epub 2019 Mar 16.
序列变异解读的标准与指南:美国医学遗传学与基因组学学会和分子病理学协会的联合共识推荐
Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.
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Amyotroph Lateral Scler. 2009 Jun;10(3):131-46. doi: 10.1080/17482960802654364.
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Amyotrophic lateral sclerosis patients and ocular ptosis.肌萎缩侧索硬化症患者与眼睑下垂
Clin Neurol Neurosurg. 2008 Feb;110(2):168-70. doi: 10.1016/j.clineuro.2007.08.022. Epub 2007 Oct 24.
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Neurologist. 2003 Jan;9(1):45-8. doi: 10.1097/01.nrl.0000038589.58012.a8.
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