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非SMN相关的脊柱肌肉缩:通过诊断影响从基因到临床表型;系统性审查

Raffaele Falsaperla¹, Carla Cimino^2,3, Ottavia Avola⁴

¹Department of Medical Science- Pediatrics, University of Ferrara, Ferrara, Italy.

Journal of child neurology

|October 15, 2025

概括

脊柱肌肉缩 (SMA) 是一种神经肌肉疾病. 本综述详细介绍了罕见的非SMN1基因相关的SMA,为复杂病例提供了诊断指南.

科学领域:

神经学神经学
遗传学是一个遗传学.
分子生物学分子生物学

背景情况:

脊髓肌肉缩 (SMA) 是一种神经肌肉疾病,其特征是运动神经元损失和肌肉缩.
大多数SMA病例 (95%) 源于生存运动神经元1 (SMN1) 基因的突变.
一小部分的SMA病例与其他基因的突变有关,称为非SMN相关的SMA.

研究的目的:

更新对非SMN链接的SMA遗传基础的理解.
概述与非SMN相关的SMA相关的独特临床特征.
为临床医生提出一个诊断协议,面对不确定的SMN1基因测序结果.

主要方法:

对非SMN相关的脊柱肌肉缩的遗传和临床数据的文献综述.
分析报告的SMN以外基因突变的病例1.
基于当前证据的诊断算法的开发.

主要成果:

确定了大约30种与非SMN相关的SMA相关的不同基因.
突出了多种不同的临床表现,包括关节,眼外运动异常,脑干症状和心肌病.
强调了非SMN相关的SMA表型的异质性.

结论:

非SMN相关的SMA代表了一个基因多样化的疾病群体,具有各种各样的临床表现.
准确的基因诊断对于理解和管理这些罕见疾病至关重要.
拟议的诊断协议旨在帮助临床医生识别非SMN-SMA,当SMN1测试是负的.

关键词:

脑子脑子脑子大脑遗传学遗传学遗传学是一个这是下一代测序.儿科儿科儿科

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