Martin J J
Born-Bunge Foundation, Universitaire Instelling Antwerpen, Wilrijk, Belgium.
Acta Neurol Belg. 1996 Sep;96(3):240-6.
Hereditary disorders of the nervous system have been defined in the past by their main clinical and neuropathological features. The genetic approach has evolved from the traditional collection of pedigrees to molecular biology techniques which nowadays identify the responsible genes, recognize their defects and describe the gene products. We illustrate these changes by a few examples from the group of spinocerebellar atrophies, hereditary motor and sensory neuropathies and Alzheimer's disease. Modern neurology has found in molecular biology an extremely powerful tool to study the hereditary disorders of the nervous system.
过去，神经系统遗传性疾病是根据其主要临床和神经病理学特征来定义的。遗传学方法已从传统的系谱收集发展到分子生物学技术，如今这些技术能够识别致病基因、确定其缺陷并描述基因产物。我们通过脊髓小脑萎缩症、遗传性运动和感觉神经病以及阿尔茨海默病等组中的几个例子来说明这些变化。现代神经病学发现分子生物学是研究神经系统遗传性疾病的极其强大的工具。
