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.
Current Molecular Medicine
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:
Keywords: Hereditary spastic paraplegia, genetic, genotype/phenotype correlations, heterogeneity, mechanisms of disease, mutation, SPG.
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.
Export Options
About this article
Cite this article as:
Tessa A., Denora P.S., Racis L., Storti E., Orlacchio A. and Santorelli F.M., Bridging Over the Troubled Heterogeneity of SPG-Related Pathologies: Mechanisms Unite What Genetics Divide, Current Molecular Medicine 2014; 14 (8) . https://dx.doi.org/10.2174/1566524014666141010154526
DOI https://dx.doi.org/10.2174/1566524014666141010154526 |
Print ISSN 1566-5240 |
Publisher Name Bentham Science Publisher |
Online ISSN 1875-5666 |
- Author Guidelines
- Graphical Abstracts
- Fabricating and Stating False Information
- Research Misconduct
- Post Publication Discussions and Corrections
- Publishing Ethics and Rectitude
- Increase Visibility of Your Article
- Archiving Policies
- Peer Review Workflow
- Order Your Article Before Print
- Promote Your Article
- Manuscript Transfer Facility
- Editorial Policies
- Allegations from Whistleblowers
Related Articles
-
Sodium Valproate Induced Tremor in a Patient with Epilepsy and Down's Syndrome
Current Drug Safety Seizures and Anticonvulsants in Brain Tumours: Frequency, Mechanisms and Anti-Epileptic Management
Current Pharmaceutical Design Neuroprotective Strategies for Neurological Disorders by Natural Products: An update
Current Neuropharmacology Valproic Acid in the Complex Therapy of Malignant Tumors
Current Drug Targets Valproic Acid and Epilepsy: From Molecular Mechanisms to Clinical Evidences
Current Neuropharmacology The Impact of Combination Therapy with a-Blockers and 5ARIs on the Progression of BPH
Current Drug Targets Sudden Unexplained Death in Infancy and Long QT Syndrome
Current Pediatric Reviews A Comprehensive Review on the Medicinal Importance; Biological and Therapeutic Efficacy of <i>Lagenaria siceraria</i> (Mol.) (Bottle Gourd) Standley Fruit
Current Topics in Medicinal Chemistry Cognitive Improvement by Activation of α7 Nicotinic Acetylcholine Receptors: From Animal Models to Human Pathophysiology
Current Pharmaceutical Design Abnormalities of Cortical Thickness in Pediatric Mesial Temporal Lobe Epilepsy with Hippocampal Sclerosis
Current Medical Imaging Cyclooxygenase-2 Inhibitors as a Therapeutic Target in Inflammatory Diseases
Current Medicinal Chemistry Editorial (Thematic Issue: Linkage of Neurodegenerative Disorders with Other Health Issues – Volume I)
CNS & Neurological Disorders - Drug Targets Comparison of Valvulopathy Risk with Lorcaserin and Phenterminetopiramate for Weight Loss
Current Drug Therapy Classical Neurotransmitters and Neuropeptides Involved in Schizophrenia: How to Choose the Appropriate Antipsychotic Drug?
Current Drug Therapy Trypanosomatid Parasites Causing Neglected Diseases
Current Medicinal Chemistry Bis-dihydroisoxazolines: Synthesis, Structural Elucidation, Antimicrobial Evaluation, and DNA Photocleavage Assay
Current Organic Synthesis Growing up with Midazolam in the Neonatal and Pediatric Intensive Care
Current Drug Metabolism Possible Role of NUCB2/nesfatin-1 in Adipogenesis
Current Pharmaceutical Design Liposomes as Versatile Platform for Cancer Theranostics: Therapy, Bio-imaging, and Toxicological Aspects
Current Pharmaceutical Design A Review on Possible Therapeutic Effect of Nigella sativa and Thymoquinone in Neurodegenerative Diseases
CNS & Neurological Disorders - Drug Targets