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EnglishThe 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.
Tessa, A., Denora, P.S., Racis, L., Storti, E., Orlacchio, A., & Santorelli, F.M. (2014). Bridging Over the Troubled Heterogeneity of SPG-Related Pathologies: Mechanisms Unite What Genetics Divide. CURRENT MOLECULAR MEDICINE [10.2174/1566524014666141010154526].
| Tipologia: | Articolo su rivista | |
| Citazione: | Tessa, A., Denora, P.S., Racis, L., Storti, E., Orlacchio, A., & Santorelli, F.M. (2014). Bridging Over the Troubled Heterogeneity of SPG-Related Pathologies: Mechanisms Unite What Genetics Divide. CURRENT MOLECULAR MEDICINE [10.2174/1566524014666141010154526]. | |
| IF: | Con Impact Factor ISI | |
| Lingua: | English | |
| Settore Scientifico Disciplinare: | Settore MED/26 - Neurologia | |
| Revisione (peer review): | Esperti anonimi | |
| Tipo: | Articolo | |
| Rilevanza: | Rilevanza internazionale | |
| Digital Object Identifier (DOI): | http://dx.doi.org/10.2174/1566524014666141010154526 | |
| Stato di pubblicazione: | Pubblicato | |
| Data di pubblicazione: | 10-ott-2014 | |
| Titolo: | Bridging Over the Troubled Heterogeneity of SPG-Related Pathologies: Mechanisms Unite What Genetics Divide | |
| Autori: | ||
| Autori: | Tessa, A; Denora, PS; Racis, L; Storti, E; Orlacchio, A; Santorelli, FM | |
| Appare nelle tipologie: | 01 - Articolo su rivista |
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