超氧化物歧化酶1（A4V）介导的肌萎缩侧索硬化症，表现为下运动神经元性面瘫和单侧声带麻痹。
SOD1 (A4V)-mediated ALS presenting with lower motor neuron facial diplegia and unilateral vocal cord paralysis.
作者信息
Salameh Johnny S, Atassi Nazem, David William S
机构信息
Massachusetts General Hospital, Department of Neurology, 165 Cambridge Street, Suite 820, Boston, Massachusetts 02114, USA.
出版信息
Muscle Nerve. 2009 Nov;40(5):880-2. doi: 10.1002/mus.21321.
Amyotrophic lateral sclerosis (ALS) is a progressive degenerative neuromuscular disease that presents with upper and lower motor neuron signs. Although the majority of ALS cases are sporadic, 10% are familial, of which 20%-25% result from mutations in the superoxide dismutase (SOD1) gene. We describe a novel case of SOD1 (A4V)-mediated ALS that presented with lower motor neuron facial diplegia and unilateral vocal cord paralysis. This case expands the phenotypic expression of the A4V mutation.
肌萎缩侧索硬化症（ALS）是一种进行性退行性神经肌肉疾病，表现为上、下运动神经元体征。虽然大多数ALS病例是散发性的，但10%是家族性的，其中20%-25%是由超氧化物歧化酶（SOD1）基因突变引起的。我们描述了一例由SOD1（A4V）介导的ALS新病例，该病例表现为下运动神经元性面瘫和单侧声带麻痹。此病例扩展了A4V突变的表型表达。
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