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Bridging Over the Troubled Heterogeneity of SPG-Related Pathologies: Mechanisms Unite What Genetics Divide

[ Vol. 14 , Issue. 8 ]

Author(s):

A. Tessa, P.S. Denora, L. Racis, E. Storti, A. Orlacchio and F.M. Santorelli   Pages 1034 - 1042 ( 9 )

Abstract:


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.

Keywords:

Hereditary spastic paraplegia, genetic, genotype/phenotype correlations, heterogeneity, mechanisms of disease, mutation, SPG.

Affiliation:

Molecular Medicine, IRCCS Fondazione Stella Maris, via dei Giacinti 2, 56128 Calambrone, Pisa, Italy.



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