Stögbauer F
Westfälische Wilhelms Universität Münster; Klinik und Poliklinik für Neurologie, Münster, 48129, Alemania.
Rev Neurol. 2001;32(2):156-64.
Significant progress in the understanding of the molecular genetics and pathophysiology of inherited neuropathies has been achieved during the last years.
The causative genetic defects of most of the demyelinating forms are known and different chromosomal loci have been identified for the rarer axonal forms. Mutations in genes encoding the myelin proteins peripheral myelin protein 22, myelin protein zero and connection 32 are associated with hereditary motor and sensory neuropathy type I and II and hereditary neuropathy with liability to pressure palsies. Transgenic animals have been generated allowing new insights in the pathophysiology of the diseases.
The understanding of the cellular mechanisms leading to hereditary neuropathies will contribute to the development of effective therapeutic strategies.
在过去几年中，我们对遗传性神经病的分子遗传学和病理生理学的理解取得了重大进展。
大多数脱髓鞘形式的致病基因缺陷已为人所知，而对于较罕见的轴索性形式，已确定了不同的染色体位点。编码髓磷脂蛋白外周髓磷脂蛋白22、髓磷脂蛋白零和连接蛋白32的基因突变与遗传性运动和感觉神经病I型和II型以及遗传性压迫易感性神经病相关。已培育出转基因动物，这为深入了解这些疾病的病理生理学提供了新的视角。
对导致遗传性神经病的细胞机制的理解将有助于开发有效的治疗策略。
