跨越SPG相关的病理性混乱的异质性：机制联合的基因分化

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.

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