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首页> 外文期刊>Neuropathology: official journal of the Japanese Society of Neuropathology >Familial amyotrophic lateral sclerosis with an I104F mutation in the SOD1 gene: Multisystem degeneration with neurofilamentous aggregates and SOD1 inclusions
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Familial amyotrophic lateral sclerosis with an I104F mutation in the SOD1 gene: Multisystem degeneration with neurofilamentous aggregates and SOD1 inclusions

机译：具有SOD1基因的I104F突变的家族性肌萎缩横向硬化：具有神经瘤聚集体和SOD1夹杂物的多系统变性

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摘要

We previously reported familial amyotrophic lateral sclerosis (FALS) of 11years duration in a 57-year-old woman, who received artificial ventilation for 5years prior to death and exhibited widespread multisystem degeneration and neurofilamentous aggregates, so-called conglomerate inclusions (CIs). In the present study, we re-evaluated this autopsied patient (proband) with further immunohistochemical observation as well as mutational analysis of the superoxide dismutase 1 (SOD1) gene. A review of the clinical features of the proband's family revealed five affected members (including the proband) over two successive generations who showed marked variability in clinical presentation, such as the age at onset. The proband was found to harbor a heterozygous missense mutation in exon 4 (I104F) of the SOD1 gene. In the brain and spinal cord, SOD1-positive neuronal cytoplasmic inclusions (NCIs) were found to be more widely distributed than CIs, the latter being weakly positive for SOD1. No Lewy body-like hyaline inclusions were found. This is considered to be the first description of an autopsy case of FALS with an I104F SOD1 gene mutation, suggesting that combination of marked intra-familial clinical variability and multisystem degeneration with occurrence of CIs and SOD1-positive NCIs is a characteristic feature of FALS with this SOD1 gene mutation.
机译：我们之前报道了家族肌营养的外侧硬化症（FAL）在57岁的女性中持续时间为57岁的女性，他们在死亡之前接受了5年的5年的人工通风，并且表现出广泛的多系统变性和神经蚕食聚集体，所谓的砾岩夹杂物（CIS）。在本研究中，我们通过进一步的免疫组化观察和超氧化物歧化酶1（SOD1）基因的突变分析来重新评估该尸检患者（副作用）。审查证明家族的临床特征揭示了两代受影响的成员（包括概念），在两个连续几代人中，在临床介绍中显示出明显的变异，例如发病时的年龄。发现证书在SOD1基因的外显子4（I104F）中含有杂合的畸形突变。在脑和脊髓中，发现SOD1阳性神经元细胞质夹杂物（NCIS）比顺应性更广泛地分布，后者对于SOD1弱阳性。没有发现Lewy Body样的透明夹杂物。这被认为是具有I104F SOD1基因突变的尸体术例的第一个描述，表明标记的内部内部临床变异性和具有CIS和SOD1阳性NCIS的发生的多相变性的组合是FAL的特征这种SOD1基因突变。

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