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

Tessa, Alessandra and Denora, Paola Silvia and Racis, Loretta and Storti, Eugenia and Orlacchio, Antonio and Santorelli, Filippo M. (2014) Bridging over the troubled heterogeneity of SPG-related pathologies: mechanisms unite what genetics divide. Current Molecular Medicine, Vol. 14 (8), p. 1034-1042. ISSN 1566-5240. eISSN 1875-5666. Article.

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DOI: 10.2174/1566524014666141010154526

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.

Item Type:Article
ID Code:10847
Status:Published
Refereed:Yes
Uncontrolled Keywords:Hereditary spastic paraplegia, genetic, genotype/phenotype correlations, heterogeneity, mechanisms of disease, mutation, SPG
Subjects:Area 06 - Scienze mediche > MED/26 Neurologia
Divisions:001 Università di Sassari > 01-a Nuovi Dipartimenti dal 2012 > Scienze Biomediche
001 Università di Sassari > 01-a Nuovi Dipartimenti dal 2012 > Medicina Clinica e Sperimentale
Publisher:Bentham Science
ISSN:1566-5240
eISSN:1875-5666
Deposited On:11 May 2015 10:48

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