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儿童遗传性神经病:新遗传学的贡献

Hereditary neuropathies in children: the contribution of the new genetics.

作者信息

Ouvrier R A

机构信息

Department of Neurology, New Children's Hospital, Westmead, NSW Australia.

出版信息

Semin Pediatr Neurol. 1996 Jun;3(2):140-51. doi: 10.1016/s1071-9091(96)80042-8.

Abstract

Although the prevalence of the hereditary motor and sensory neuropathies in childhood is not clearly established and the age of presentation may overlap the arbitrary boundary between pediatric and adult neurology, the recent explosion of genetic information regarding these conditions has completely altered our understanding and classification of these diseases. The current status of our understanding of the molecular basis of the hereditary neuropathies which might present in childhood is reviewed. The impact of this information on our concepts of the mechanisms operative in the production of the clinical signs and symptoms in these diseases is discussed.

摘要

尽管儿童期遗传性运动和感觉神经病的患病率尚未明确确定,且发病年龄可能跨越儿科神经病学和成人神经病学之间的人为界限,但最近有关这些疾病的基因信息激增,彻底改变了我们对这些疾病的理解和分类。本文综述了我们目前对可能在儿童期出现的遗传性神经病分子基础的理解状况。并讨论了这些信息对我们关于这些疾病临床体征和症状产生机制概念的影响。

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