摘要
遗传性痉挛性截瘫(HSP)的特点是腿部无力的痉挛性步态和额外的神经或外神经症状所表现的“复杂”形式。在过去的二十年中,通过对数量众多位点的鉴定和一些SPG基因的克隆,鉴证了我们对他们的分子基础认识的重大进展。我们见证了对HSP的分子基础提供了的。把遗传学和临床的信息与一些可能的发病机制的数据结合起来,构成了的一个现代化的、分子驱动的分类方法和一种改进的诊断方式。此外,异质性将快速融入新一代测序平台的推广,并且在发病机理共同主题的庇护下,为大量的患者提供新的治疗选择。
关键词: 遗传性痉挛性截瘫,遗传学,基因型/表型的相关性,异质性,发病机制,突变,SPG
Current Molecular Medicine
Title:Bridging Over the Troubled Heterogeneity of SPG-Related Pathologies: Mechanisms Unite What Genetics Divide
Volume: 14 Issue: 8
Author(s): A. Tessa, P.S. Denora, L. Racis, E. Storti, A. Orlacchio and F.M. Santorelli
Affiliation:
关键词: 遗传性痉挛性截瘫,遗传学,基因型/表型的相关性,异质性,发病机制,突变,SPG
摘要: The hereditary spastic paraplegias (HSP) are characterized by spastic gait with weakness in the legs and additional neurological or extra-neurological signs in "complicated" forms.
The past two decades have witnessed major advances in our understanding of their molecular bases with the identification of a plethora of loci and the cloning of several SPG genes. Combined genetic and clinical information has permitted a modern, molecularly-driven classification and an improved diagnosis, with several new data on the possible disease mechanisms. Further heterogeneity will rapidly emerge with the diffusion of next-generation sequencing platforms and, under the shadow of common themes in the pathogenesis, new therapeutic options will likely emerge for a great number of patients.
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Cite this article as:
Tessa A., Denora P.S., Racis L., Storti E., Orlacchio A. and Santorelli F.M., Bridging Over the Troubled Heterogeneity of SPG-Related Pathologies: Mechanisms Unite What Genetics Divide, Current Molecular Medicine 2014; 14 (8) . https://dx.doi.org/10.2174/1566524014666141010154526
DOI https://dx.doi.org/10.2174/1566524014666141010154526 |
Print ISSN 1566-5240 |
Publisher Name Bentham Science Publisher |
Online ISSN 1875-5666 |
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