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.
