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[神经遗传学——神经病学面临的挑战。1. 神经遗传疾病]

[Neurogenetics--the challenge for neurology. 1. Neurogenetic diseases].

作者信息

Gasser T, Trenkwalder C, Meitinger T, Witt T N, Murken J, Oertel W H

机构信息

Klinikum Grosshadern, Ludwig-Maximilians-Universität.

出版信息

Nervenarzt. 1991 Oct;62(10):590-608.

PMID:1749451
Abstract

Progress in molecular genetics has provided insight into a number of neurogenetic disorders. The chromosomal location of the genes for Huntington's disease, Wilson's disease, myotonic dystrophy and Friedreich's ataxia are now known. In families affected by these illnesses, linkage analysis can now be employed for presymptomatic or prenatal diagnosis. The genes for Duchenne and Becker muscular dystrophy and neurofibromatosis I have been cloned and sequenced, allowing the direct analysis of the genetic defect in many cases, and thereby providing further insight into the pathophysiology. In addition, the classification of several neurogenetic diseases, such as the hereditary motor and sensory neuropathies or the spinal muscular atrophies can now be based on the chromosomal location of the affected gene(s).

摘要

分子遗传学的进展使人们对一些神经遗传性疾病有了更深入的了解。目前已知亨廷顿舞蹈病、威尔逊氏病、强直性肌营养不良和弗里德赖希共济失调的致病基因在染色体上的位置。在受这些疾病影响的家族中,连锁分析现在可用于症状前或产前诊断。杜兴氏和贝克氏肌营养不良以及神经纤维瘤病I型的基因已被克隆和测序,这使得在许多情况下能够直接分析遗传缺陷,从而进一步深入了解病理生理学。此外,几种神经遗传性疾病,如遗传性运动和感觉神经病或脊髓性肌萎缩症的分类现在可以基于受影响基因在染色体上的位置。

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