Bridging over the troubled heterogeneity of SPG-related pathologies: Mechanisms unite what genetics divide

A. Tessa, P. S. Denora, L. Racis, E. Storti, A. Orlacchio, F. M. Santorelli

Research output: Contribution to journalArticle

Abstract

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.

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.

Original languageEnglish
Pages (from-to)1034-1042
Number of pages9
JournalCurrent Molecular Medicine
Volume14
Issue number8
Publication statusPublished - Mar 1 2014

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Keywords

  • Genetic
  • Genotype/phenotype correlations
  • Hereditary spastic paraplegia
  • Heterogeneity
  • Mechanisms of disease
  • Mutation
  • SPG

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Biology
  • Molecular Medicine

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