Abstract
The majority of studies investigating the molecular pathogenesis and cell biology underlying dystonia have been performed in individuals with primary dystonia. This includes monogenic forms such as DYT1and DYT6 dystonia, and primary focal dystonia which is likely to be multifactorial in origin. In recent years there has been renewed interest in non-primary forms of dystonia including the dystonia-plus syndromes and heredodegenerative disorders. These are caused by a variety of genetic mutations and their study has contributed to our understanding of the neuronal dysfunction that leads to dystonia These findings have reinforced themes identified from study of primary dystonia including abnormal dopaminergic signalling, cellular trafficking and mitochondrial function. In this review we highlight recent advances in the understanding of the dystonia-plus syndromes and heredodegenerative dystonias.
Keywords: Dystonia- plus syndrome, Secondary dystonia, Molecular pathogenesis, Neurodegeneration, Mitochondria
Current Neuropharmacology
Title:Recent Advances in the Molecular Pathogenesis of Dystonia-Plus Syndromes and Heredodegenerative Dystonias
Volume: 11 Issue: 1
Author(s): Catharina Casper, Eirini Kalliolia and Thomas T. Warner
Affiliation:
Keywords: Dystonia- plus syndrome, Secondary dystonia, Molecular pathogenesis, Neurodegeneration, Mitochondria
Abstract: The majority of studies investigating the molecular pathogenesis and cell biology underlying dystonia have been performed in individuals with primary dystonia. This includes monogenic forms such as DYT1and DYT6 dystonia, and primary focal dystonia which is likely to be multifactorial in origin. In recent years there has been renewed interest in non-primary forms of dystonia including the dystonia-plus syndromes and heredodegenerative disorders. These are caused by a variety of genetic mutations and their study has contributed to our understanding of the neuronal dysfunction that leads to dystonia These findings have reinforced themes identified from study of primary dystonia including abnormal dopaminergic signalling, cellular trafficking and mitochondrial function. In this review we highlight recent advances in the understanding of the dystonia-plus syndromes and heredodegenerative dystonias.
Export Options
About this article
Cite this article as:
Casper Catharina, Kalliolia Eirini and T. Warner Thomas, Recent Advances in the Molecular Pathogenesis of Dystonia-Plus Syndromes and Heredodegenerative Dystonias, Current Neuropharmacology 2013; 11 (1) . https://dx.doi.org/10.2174/1570159X11311010005
DOI https://dx.doi.org/10.2174/1570159X11311010005 |
Print ISSN 1570-159X |
Publisher Name Bentham Science Publisher |
Online ISSN 1875-6190 |
- 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
- Announcements
Related Articles
-
Cell Death in Mammalian Development
Current Pharmaceutical Design Antimicrobial Compounds of Low Molecular Mass are Constitutively Present in Insects: Characterisation of β-Alanyl-Tyrosine
Current Pharmaceutical Design How Would Composite Traditional Chinese Medicine Protect the Brain – An Example of the Composite Formula “Pien Tze Huang”
Current Medicinal Chemistry Pharmacological Regulators of Intracellular Calcium Release Channels
Current Pharmaceutical Design Management of Glioblastoma Multiforme by Phytochemicals: Applications of Nanoparticle-Based Targeted Drug Delivery System
Current Drug Targets The Pharmacokinetics and Toxicology of Aluminum in the Brain
Current Inorganic Chemistry (Discontinued) Influence of CD80 and CD86 Co-Stimulation in the Modulation of the Activation of Antigen Presenting Cells
Current Immunology Reviews (Discontinued) Endocannabinoid Regulation of Matrix Metalloproteinases: Implications in Ischemic Stroke
Cardiovascular & Hematological Agents in Medicinal Chemistry Cloning and Transcriptional Regulation of Genes Responsible for Synthesis of Gangliosides
Current Drug Targets Bioactive N-Phenylimidazole Derivatives
Current Chemical Biology MicroRNAs in Breast Cancer: One More Turn in Regulation
Current Drug Targets Immunotherapeutic Options for Pediatric Malignancies
Current Immunology Reviews (Discontinued) Natural Polymeric Nanoparticles for Brain-Targeting: Implications on Drug and Gene Delivery
Current Pharmaceutical Design NO Chimeras as Therapeutic Agents in Alzheimers Disease
Current Alzheimer Research Serum Testosterone and Cognitive Function in Ageing Male: Updating the Evidence
Recent Patents on Endocrine, Metabolic & Immune Drug Discovery Triggers of Cell Death in the Developing Brain
Current Pediatric Reviews Fluorescent Carbon Dots and Nanodiamonds for Biological Imaging: Preparation, Application, Pharmacokinetics and Toxicity
Current Drug Metabolism Doping Metal into Calcium Phosphate Phase for Better Performance of Bone Implant Materials
Recent Patents on Materials Science Insights into the Influences of Carboxymethyl-β-Cyclodextrin on DNA Formulations Characteristics and Gene Transfection Efficiency
Current Drug Delivery Gold and Silver Nanoparticles for Applications in Theranostics
Current Topics in Medicinal Chemistry