相关实验视频

Updated: Jan 10, 2026

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

与PMP22相关的神经病变:系统性审查

Carlo Alberto Cesaroni^1,2, Laura Caiazza¹, Giulia Pisanò¹

¹Child Neurology and Psychiatry Unit, Dipartimento Materno-Infantile, Presidio Ospedaliero Santa Maria Nuova, AUSL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy.

|November 27, 2025

概括

与PMP22相关的神经病变主要是由副本数变异引起的,PMP22的序列变异导致更罕见,更明显的表型. 标准化报告对于准确的诊断和比较至关重要.

科学领域:

神经学神经学
遗传学遗传学是一个
临床医学临床医学

背景情况:

与PMP22相关的神经病变包括Charcot-Marie-Tooth型1A (CMT1A) 和遗传性神经病变,可能导致压力 (HNPP).
更罕见的表型包括CMT1E和Dejerine-Sottas综合征 (DSS),通常与PMP22序列变异有关.
这些疾病主要是脱髓化的神经病变.

研究的目的:

系统地审查最近文献中报告的与PMP22相关的神经病变.
从基因确诊病例中合成临床,神经生理和遗传数据.
确定诊断趋势和改善报告的领域.

主要方法:

对PubMed和Scopus数据库进行符合PRISMA的系统审查 (2015年1月至2025年8月).
包括127项研究,其中4493名患者报告了基因确认的PMP22相关神经病变.
由于异质的数据报告,聚合计数和比例被合成.

主要成果:

副本数量变异 (17p12上的重复/删除) 占大多数病例 (95.2%).
这些表型包括CMT1A (75.4%),HNPP (20.9%),CMT1E (2.6%) 和DSS (1.2%).
软弱/脚是常见的症状;神经生理学显示脱髓化模式,具体的神经参与因表型而异.

结论:

PMP22副本数变异是这些神经病变的主要原因.
序列变异与 CMT1E/DSS. 等不同,更罕见的表型有关.
对临床和神经生理学数据的标准化报告对于未来的研究和诊断至关重要.

关键词:

在CMT上使用CMT.在HNPP中,HNPP是最重要的.在PMP2222中使用.神经病变是一种神经病变.

更多相关视频

Author Spotlight: Genetically Engineered Mouse Models and Pathological Characterization of Neurofibromatosis Type 1 Associated Tumors

Author Spotlight: Genetically Engineered Mouse Models and Pathological Characterization of Neurofibromatosis Type 1 Associated Tumors

Published on: May 17, 2024

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

相关概念视频

Peripheral Arterial Disease II: Clinical Manifestations and Diagnostic Evaluation

Peripheral Arterial Disease II: Clinical Manifestations and Diagnostic Evaluation

Clinical manifestationsPeripheral Arterial Disease (PAD) manifests through a range of symptoms, from the characteristic intermittent claudication to atypical presentations and severe complications in advanced stages. Intermittent claudication, a hallmark symptom of PAD, presents as exercise-induced muscle pain that typically resolves within minutes of rest. This pain is reproducible and stems from inadequate blood flow, leading to the accumulation of lactic acid produced during anaerobic...