相关实验视频

Updated: May 31, 2025

Clinical Testing and Spinal Cord Removal in a Mouse Model for Amyotrophic Lateral Sclerosis ALS

Clinical Testing and Spinal Cord Removal in a Mouse Model for Amyotrophic Lateral Sclerosis ALS

Published on: March 17, 2012

在脊髓肌肉缩病例中,诊断延迟了7年

Hideyuki Iwayama¹, Tatsuya Fukasawa², Yoshiteru Azuma¹

¹Department of Pediatrics, Aichi Medical University School of Medicine, Nagakute, Japan.

Brain & development

|January 23, 2025

概括

脊椎肌肉缩 (SMA) 诊断可能具有挑战性. 测序分析对于识别拷贝数检测中遗漏的罕见SMN1突变至关重要,确保所有SMA患者的准确诊断和治疗.

科学领域:

遗传学是一个遗传学.
神经学神经学
分子生物学分子生物学

背景情况:

脊椎肌肉缩 (SMA) 通常使用生存运动神经元 (SMN) 1基因复制数分析来诊断.
由于复制数分析的局限性,SMA病例的一个子集需要基因测序来确定确诊.

研究的目的:

突出测序分析在诊断具有挑战性的SMA病例中的重要性.
在症状出现7年后诊断出SMA的病例.
强调基因测序在识别新型SMN1突变中的作用.

主要方法:

一个12岁女孩SMA的案例报告.
最初的诊断涉及SMN1的复制数分析和外基因组测序.
随后的基因测序发现了一个新的SMN1突变 (c.284G>A:p.Gly95Glu).
用多重结合依赖的探头放大来确定SMN2副本数.

主要成果:

标准拷贝数分析和外基因组测序未能检测出致病突变.
基因测序揭示了SMN1基因中的一个新的点突变.
该患者被诊断为SMA型3b,其特征是SMN2的两个副本和轻微的症状.
开始使用nusinersen治疗.

结论:

大约2-5%的SMA患者在SMN1中存在点突变或小插入/删除,无法通过复制数分析检测到.
测序分析对于诊断这些特定的SMA病例至关重要.
在这种情况下,SMA3b类型的轻微表型可能是SMN1突变和删除的结合.
应考虑基因测序来诊断SMA,即使在先前进行基因测试之后.

关键词:

复制数分析复制数分析诊断诊断诊断诊断诊断在MLPA中,我们可以使用MLPA.测序分析分析的测序分析.脊柱肌肉缩脊柱肌肉缩脊柱肌肉缩

更多相关视频

Utility of Dissociated Intrinsic Hand Muscle Atrophy in the Diagnosis of Amyotrophic Lateral Sclerosis

Utility of Dissociated Intrinsic Hand Muscle Atrophy in the Diagnosis of Amyotrophic Lateral Sclerosis

Published on: March 4, 2014

In Vivo Electrophysiological Measurement of Compound Muscle Action Potential from the Forelimbs in Mouse Models of Motor Neuron Degeneration

In Vivo Electrophysiological Measurement of Compound Muscle Action Potential from the Forelimbs in Mouse Models of Motor Neuron Degeneration

Published on: June 15, 2018

相关概念视频

Myasthenia Gravis: Diagnostic Tests

Myasthenia Gravis: Diagnostic Tests

Myasthenia gravis is an autoimmune condition affecting neuromuscular transmission, causing generalized weakness in skeletal muscles. Initial diagnoses rely on patients' signs, symptoms, and medical history. The challenge lies in distinguishing myasthenia from other muscular dystrophies. An important diagnostic feature is the significant improvement of symptoms after administering anticholinesterase inhibitors.
The edrophonium test is a diagnostic tool for myasthenia gravis. It involves...

Satellite Stem Cells and Muscular Dystrophy

Satellite Stem Cells and Muscular Dystrophy

Satellite stem cells or myosatellite cells are quiescent stem cells that Alexander Mauro first identified in 1961. These cells are located between the sarcolemma, the plasma membrane of muscle fibers, and the basal lamina, the connective tissue sheath covering it. These mononucleated cells are activated in response to muscle injury, can transform into myoblasts, and may form or repair muscle fibers. Myosatellite cells can provide additional myonuclei for muscle regeneration or return to a...

Disorders of the Skeletal Muscle

Disorders of the Skeletal Muscle

The clinical conditions affecting the skeletal muscle tissue are broadly categorized as musculoskeletal and neuromuscular disorders.
Musculoskeletal disorders
Musculoskeletal disorders involve injuries and conditions affecting the skeletal muscles and associated connective tissues. These disorders can arise from acute biomechanical stresses or chronic overuse and can occur across different age groups. Common injuries include sprains, fractures, and muscular strains, often resulting from...

Myasthenia Gravis: Overview and Treatment

Myasthenia Gravis: Overview and Treatment

Myasthenia gravis is a neuromuscular transmission disorder characterized by weakness and increased fatigability of skeletal muscles. It is an autoimmune disease affecting approximately one in 2000 people, where antibodies against the α1 subunit of nicotinic acetylcholine receptors are produced.
These antibodies interfere with the function of the nicotinic receptors in three ways: by binding to the receptor and disrupting acetylcholine binding; by causing cross-linking of receptors which...