Spinal muscular atrophy type 2 patient who survived 61 years: an autopsy case report.
Spinal muscular atrophy type 2 patient who survived 61 years: an autopsy case report.
复制标题
存活 61 年的 2 型脊髓性肌萎缩症患者：尸检病例报告。
DOI：
10.1111/neup.12784
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发表时间：
2022
期刊：
影响因子：
2.3
通讯作者：
Fujimura H.
中科院分区：
文献类型：
--
作者：
Yamadera M;Saito T;Shinohara M;Nishio H;Murayama S;Fujimura H.
脊髓性肌萎缩症（SMA）是一种常染色体隐性遗传性神经肌肉疾病，其特征是由于脊髓前角下运动神经元变性导致的进行性肌无力。我们分析了一例存活至61岁的SMA 2型男性患者的尸检结果。遗传分析显示运动神经元存活基因（SMN）1（SMN 1）外显子7的纯合缺失，证实了SMA的诊断。进一步分析的结果表明，患者有两个拷贝的真正的SMN基因2（SMN 2）和一个拷贝的杂合基因，包含SMN 2外显子7和SMN 1外显子8。病理学检查显示，中度神经元损失的前角和外观的异位神经元的外侧索，而一些无色的神经元显着定位在前角的腰段。在额叶的白色物质中发现迁移障碍导致的微小发育不全，推测可能是神经系统发育不良。
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease characterized by progressive muscle weakness due to degeneration of lower motor neurons in the anterior horn of the spinal cord. We analyzed autopsy findings of a male patient with SMA type 2 who survived until 61 years of age. Genetic analysis revealed a homozygous deletion of the survival motor neuron (SMN) gene 1 (SMN1) exon 7, confirming the diagnosis of SMA. Results of further analyses indicated that the patient had two copies of the genuine SMN gene 2 (SMN2) and one copy of a hybrid gene containingSMN2exon 7 andSMN1exon 8. Pathological examination revealed moderate neuronal loss of the anterior horn and appearance of heterotopic neurons in the lateral funiculus, whereas a few achromatic neurons were notably localized in the anterior horn of the lumbar segment. Microdysgenesis as a consequence of migration disturbance was found in the white matter of the frontal lobe, postulating the possibility of the maldevelopment of the nervous system.