一例 SOD1 G93S 基因突变的家族性肌萎缩侧索硬化症长期存活病例的尸检报告:残存神经元中缺乏 SOD1 阳性包涵体。

IF 1.3 4区 医学 Q4 CLINICAL NEUROLOGY
Neuropathology Pub Date : 2024-09-23 DOI:10.1111/neup.13004
Asuka Funai, Kentaro Hayashi, Akihiro Kawata, Yuki Nakayama, Chiharu Matsuda, Michiko Haraguchi, Kazushi Takahashi, Takashi Komori
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引用次数: 0

摘要

我们描述了一名 70 岁日本男性的病例,他患有家族性肌萎缩侧索硬化症(fALS),与铜/锌超氧化物歧化酶(SOD1)基因的 p.Gly93Ser 突变有关。该基因突变是相对罕见的 SOD1 基因突变之一,此前仅有一例尸检报告,且病程较长。如先前报告所述,患者 33 岁时出现下肢无力,随后出现吞咽困难、下肢感觉障碍和自主神经功能障碍。他 44 岁时需要机械通气,70 岁时死于急性胰腺炎。从神经病理学角度看,除了家族性 ALS 后柱受累的典型病变外,还观察到多系统变性。此外,剩余的运动神经元中没有 SOD1 阳性包涵体。没有 SOD1 阳性包涵体是一种罕见的特征,主要见于 SOD1 基因突变的长期存活病例。我们推测,运动神经元细胞中异常 SOD1 蛋白的含量相当低,这可能是患者临床病程特别长的原因。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
An autopsy report of a long-survival case of familial amyotrophic lateral sclerosis with SOD1 G93S gene mutation: Lack of SOD1-positive inclusion in the remaining neurons.

We describe the case of a 70-year-old Japanese man with familial amyotrophic lateral sclerosis (fALS) associated with a p.Gly93Ser mutation in the copper/zinc superoxide dismutase (SOD1) gene. This mutation is one of the relatively rare SOD1 mutations, with only one previous autopsy report, and is known for its longer disease duration. As previously reported, the patient had weakness in the lower limbs at age 33, followed by dysphagia, dysesthesia in the lower limbs, and autonomic dysfunction. He required mechanical ventilation at age 44 and died of acute pancreatitis at age 70. Neuropathologically, multisystem degeneration was observed beyond lesions typical of familial ALS with posterior column involvement. In addition, there was no SOD1-positive inclusion in the remaining motor neurons. The absence of SOD1-positive inclusion is a rare feature observed predominantly in long survival cases with SOD1 gene mutations. We hypothesize that the considerably lower amount of abnormal SOD1 protein in the motor neuron cells might explain our patient's extraordinarily long clinical course.

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来源期刊
Neuropathology
Neuropathology 医学-病理学
CiteScore
4.10
自引率
4.30%
发文量
105
审稿时长
6-12 weeks
期刊介绍: Neuropathology is an international journal sponsored by the Japanese Society of Neuropathology and publishes peer-reviewed original papers dealing with all aspects of human and experimental neuropathology and related fields of research. The Journal aims to promote the international exchange of results and encourages authors from all countries to submit papers in the following categories: Original Articles, Case Reports, Short Communications, Occasional Reviews, Editorials and Letters to the Editor. All articles are peer-reviewed by at least two researchers expert in the field of the submitted paper.
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