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脑瘫的遗传学考量

Genetics considerations in cerebral palsy.

作者信息

Schaefer G Bradley

机构信息

University of Nebraska Medical Center, Munroe-Meyer Institute for Rehabilitation and Genetics Medicine, Omaha, NE 68198-5430, USA.

出版信息

Semin Pediatr Neurol. 2008 Mar;15(1):21-6. doi: 10.1016/j.spen.2008.01.004.

Abstract

Cerebral palsy refers to a collective of neurologic conditions that share in common disorders of motor function and posture. Traditionally, and still today in many circles, the term is considered almost synonymous with brain injury. Multiple lines of evidence, however, point to the fact that cerebral palsy is rarely caused by problems with perinatal management. In fact, a mounting body of evidence points to strong genetic influences on the occurrence of cerebral palsy. Like most neurogenetic conditions, cerebral palsy exhibits complex inheritance. The best descriptor of the inheritance of cerebral palsy would be that of "multifactorial inheritance." This implies etiologic and genetic heterogeneity with complex interactions with multiple environmental influences. This article reviews known genetic influences on the origin of cerebral palsy. A proposed scheme for the genetic evaluation in identifying the etiology of cerebral palsy is provided.

摘要

脑瘫是指一组具有共同运动功能和姿势障碍的神经系统疾病。传统上,而且至今在许多领域,这个术语几乎被视为脑损伤的同义词。然而,多条证据表明,脑瘫很少由围产期管理问题引起。事实上,越来越多的证据表明,遗传因素对脑瘫的发生有很大影响。与大多数神经遗传疾病一样,脑瘫表现出复杂的遗传模式。对脑瘫遗传模式的最佳描述是“多因素遗传”。这意味着病因和遗传的异质性,以及与多种环境影响的复杂相互作用。本文综述了已知的对脑瘫病因的遗传影响。并提供了一个用于识别脑瘫病因的遗传评估方案。

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