遗传性神经病

结论成人型Leigh综合征属于线粒体病，是由于线粒体基因缺陷所致的致死性遗传性神经病。

Conclusion Adult Leigh syndrome is a fatal inherited neuropathy which is caused by the defect of mitochondria gene .

遗传性神经病相关的压力型瘫痪伴急性炎症性脱髓鞘性多发性神经病（法国）

Hereditary neuropathy with liability to pressure palsy presenting with an acute inflammatory demyelinating polyneuropathy ( Fren )

用位点特异PCR法检测Leber遗传性视神经病家系的mtDNA11778G→A点突变

Detection of mtDNA 11778 ( G → A ) Point Mutation in a Family with Leber 's Hereditary Optic Neuropathy by Site-specific Polymerase Chain Reaction

在更多的DNA点突变被发现与Leber遗传性视神经病（LHON）相关同时，成功的实验性基因治疗为未来临床治疗LHON提供了可能。

With more and more DNA mutation associated with Leber 's hereditary optic neuropathy ( LHON ) found , experimental gene therapy of LHON is becoming promising .

Leber遗传性视神经病是由于线粒体基因突变导致的母系遗传性常见致盲眼疾。

Leber 's hereditary optic neuropathy ( LHON ) , a common blinding disease , is a maternally inherited degeneration of the optic nerve caused by point mutations of mitochondrial DNA .

远端型遗传性运动神经病的临床特征分析多神经炎型遗传性运动失调

Chinese patients with distal hereditary motor neuropathy : an analysis of clinical characteristics

该组疾病是遗传性周围神经病最常见的类型，发病率为1/2500。

CMT is the most common type of genetically peripheral neuropathies with the incidence of1 / 2500 .

遗传性压迫易感性神经病（hereditaryneuropathywithliabilitytopressurepalsies，HNPP）是一种少见的常染色体显性遗传的周围神经病。

Hereditary neuropathy with liability to pressure palsies ( HNPP ) is a rare autosomal dominant inherited disease characterized by recurrent painless focal neuropathy precipitated by compression or trauma .

[背景与目的]腓骨肌萎缩症（Charcot-Marie-Tooth，CMT）亦称为遗传性运动感觉神经病，具有明显的遗传异质性，临床主要特征是四肢远端进行性的肌无力、肌萎缩以及感觉障碍。

[ Background and objective ] Charcot-Marie-Tooth ( CMT ) disease , also known as hereditary motor and sensory neuropathies ( HMSN ), is genetically heterogeneous and characterized by slowly progressive distal muscle wasting and weakness with sensory loss .

结论我国PMP22基因重复突变的致病频率为31.9%（36/113），PMP22基因缺失突变是遗传性压力易感性神经病常见的致病原因。

PMP22 duplication rate in Chinese patients with CMT is31.9 % ( 36 / 113 ) . ? PMP22 deletion is the common cause of HNPP .

Ia型遗传性运动感觉神经病的临床严重程度和轴突功能障碍

Clinical disease severity and axonal dysfunction in hereditary motor and sensory neuropathy Ia

遗传性感觉交感神经病Ⅰ型一家系的临床、电生理和病理改变

Clinical electrophysiological and pathological study on hereditary sensory and autonomic neuropathy type ⅰ in a Chinese family

遗传性感觉神经根神经病及染色体组型分析

The karyotype analysis in a family of hereditary sensory radicular neuropathy

本文报告了一个家庭三例遗传性感觉神经根神经病患者的临床表现，并对其中二例及其父母的染色体作了核型分析。

This paper reported a family in which 3 members suffered from hereditary sensory radicular neuropathy , and described the clinical features of the patients , and analysed the chromosomal karyotype of two patients and of their parents .

目的探讨一个5代遗传的具有独特表型的Leber遗传性视神经病（LHON）家系的线粒体基因突变。

Objective To preliminarily analyze mitochondrial gene mutations of a five generation LHON ( Leber hereditary optic neuropathy ) pedigree with peculiar expression .