Abstract
There is a wide variety of genetic and sporadic causes for neurodegenerative disorders with apparent brain iron accumulation on magnetic resonance imaging. Rare recessive causes include PLA2G6 mutations (infantile neuroaxonal dystrophy), and mutations of ATP13A2 (Kufor Rakeb syndrome) and FA2H. A variety of sporadic neurological disorders can present brain iron accumulation on imaging, including multiple sclerosis and neurological manifestations of HIV infection. The relevant clinical and imaging features will be discussed.
Keywords: c19orf2, FA2H, PLA2G6, NBIA, neurodegenerative disorders, magnetic resonance imaging, sclerosis, HIV infection, INAD, tetraparesis
Current Drug Targets
Title:PLA2G6 Mutations and Other Rare Causes of Neurodegeneration with Brain Iron Accumulation
Volume: 13 Issue: 9
Author(s): Alisdair McNeill
Affiliation:
Keywords: c19orf2, FA2H, PLA2G6, NBIA, neurodegenerative disorders, magnetic resonance imaging, sclerosis, HIV infection, INAD, tetraparesis
Abstract: There is a wide variety of genetic and sporadic causes for neurodegenerative disorders with apparent brain iron accumulation on magnetic resonance imaging. Rare recessive causes include PLA2G6 mutations (infantile neuroaxonal dystrophy), and mutations of ATP13A2 (Kufor Rakeb syndrome) and FA2H. A variety of sporadic neurological disorders can present brain iron accumulation on imaging, including multiple sclerosis and neurological manifestations of HIV infection. The relevant clinical and imaging features will be discussed.
Export Options
About this article
Cite this article as:
McNeill Alisdair, PLA2G6 Mutations and Other Rare Causes of Neurodegeneration with Brain Iron Accumulation, Current Drug Targets 2012; 13 (9) . https://dx.doi.org/10.2174/138945012802002401
DOI https://dx.doi.org/10.2174/138945012802002401 |
Print ISSN 1389-4501 |
Publisher Name Bentham Science Publisher |
Online ISSN 1873-5592 |
Call for Papers in Thematic Issues
New drug therapy for eye diseases
Eyesight is one of the most critical senses, accounting for over 80% of our perceptions. Our quality of life might be significantly affected by eye disease, including glaucoma, diabetic retinopathy, dry eye, etc. Although the development of microinvasive ocular surgery reduces surgical complications and improves overall outcomes, medication therapy is ...read more
- 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
-
Neuroprotective Methodologies of Co-Enzyme Q10 Mediated Brain Hemorrhagic Treatment: Clinical and Pre-Clinical Findings
CNS & Neurological Disorders - Drug Targets Regulation of Apo E Expression by the Nuclear Receptors- LXRs and FXR
Current Medicinal Chemistry - Immunology, Endocrine & Metabolic Agents Determination of Lipoic Acid in the form of 2-S-pyridinium Derivative by High-performance Liquid Chromatography with Ultraviolet Detection
Current Analytical Chemistry Classical Neurotransmitters and Neuropeptides Involved in Parkinson's Disease: Focus on Anti-Parkinsonian Drugs
Current Drug Therapy New Approaches for the Selection and Evaluation of Anti-Prion Organic Compounds
Mini-Reviews in Medicinal Chemistry Template Dependent Human DNA Polymerases
Current Topics in Medicinal Chemistry Stem Cell-Based Approaches for Intervertebral Disc Regeneration
Current Stem Cell Research & Therapy The Double Roles of the Prostaglandin E<sub>2</sub> EP2 Receptor in Intracerebral Hemorrhage
Current Drug Targets Small Molecules in Stem Cell Research
Current Pharmaceutical Biotechnology Editorial - Progress of Current Alzheimer Research
Current Alzheimer Research The Many Roles of Chemokine Receptors in Neurodegenerative Disorders: Emerging New Therapeutical Strategies
Current Medicinal Chemistry Targeting Generation of Antibodies Specific to Conformational Epitopes of Amyloid β-Derived Neurotoxins
CNS & Neurological Disorders - Drug Targets Scientific Basis for the Use of Indian Ayurvedic Medicinal Plants in the Treatment of Neurodegenerative Disorders: 1. Ashwagandha
Central Nervous System Agents in Medicinal Chemistry Chondroitin Sulfate, a Major Niche Substance of Neural Stem Cells, and Cell Transplantation Therapy of Neurodegeneration Combined with Niche Modification
Current Stem Cell Research & Therapy Cannabinoid Receptors and Endocannabinoids: Role in Neuroinflammatory and Neurodegenerative Disorders
CNS & Neurological Disorders - Drug Targets Role of Monocarboxylate Transporters in Drug Delivery to the Brain
Current Pharmaceutical Design Insights into Aβ Aggregation: A Molecular Dynamics Perspective
Current Topics in Medicinal Chemistry Nanomedicine and its Potential for the Treatment of Alzheimer’s Disease
Current Nanomedicine Cannabinoid System in Neurodegeneration: New Perspectives in Alzheimers Disease
Mini-Reviews in Medicinal Chemistry Preface
Current Medicinal Chemistry