与p.E121G SOD1突变相关的多系统累及的缓慢进行性运动神经元疾病

IF 2.5 4区医学 Q2 CLINICAL NEUROLOGY Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration Pub Date : 2017-04-03 DOI:10.1080/21678421.2016.1255756

G. Taieb, A. Polge, R. Juntas-Morales, N. Pageot, S. Lumbroso, K. Mouzat, W. Camu

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引用次数: 1

摘要

我们报告第三例与p.E121G超氧化物歧化酶-1 (SOD1)突变相关的肌萎缩性侧索硬化症。除了前文2例所述的零星表现和缓慢进展的过程外，我们的患者还表现出明显的感觉和小脑体征。本病例报告强调p.E121G应被认为是一种致病突变。缓慢的上下运动神经元变性，即使具有非运动临床特征，也应提示SOD1的测序。

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Slowly progressive motor neuron disease with multi-system involvement related to p.E121G SOD1 mutation

Abstract We report the third case of amyotrophic lateral sclerosis related to p.E121G Superoxide dismutase-1 (SOD1) mutation. Besides a sporadic presentation and a slow progressive course, as described in the 2 previously cases, our patient presented with prominent sensory and cerebellar signs. This case report strengthens that p.E121G should be considered as a causal mutation. Slowly upper and lower motor neuron degeneration, even with non-motor clinical features, should prompt a sequencing of SOD1.

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来源期刊

Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration CLINICAL NEUROLOGY-

CiteScore

5.40

自引率

10.70%

发文量

期刊介绍： Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration is an exciting new initiative. It represents a timely expansion of the journal Amyotrophic Lateral Sclerosis in response to the clinical, imaging pathological and genetic overlap between ALS and frontotemporal dementia. The expanded journal provides outstanding coverage of research in a wide range of issues related to motor neuron diseases, especially ALS (Lou Gehrig’s disease) and cognitive decline associated with frontotemporal degeneration. The journal also covers related disorders of the neuroaxis when relevant to these core conditions.