Abstract
Knowledge on the genetics of movement disorders has advanced significantly in recent years. It is now recognized that disorders of the basal ganglia have genetic basis and it is suggested that molecular genetic data will provide clues to the pathophysiology of normal and abnormal motor control. Progress in molecular genetic studies, leading to the detection of genetic mutations and loci, has contributed to the understanding of mechanisms of neurodegeneration and has helped clarify the pathogenesis of some neurodegenerative diseases. Molecular studies have also found application in the diagnosis of neurodegenerative diseases, increasing the range of genetic counseling and enabling a more accurate diagnosis. It seems that understanding pathogenic processes and the significant role of genetics has led to many experiments that may in the future will result in more effective treatment of such diseases as Parkinson’s or Huntington’s. Currently used molecular diagnostics based on DNA analysis can identify 9 neurodegenerative diseases, including spinal cerebellar ataxia inherited in an autosomal dominant manner, dentate-rubro-pallido-luysian atrophy, Friedreich’s disease, ataxia with oculomotorapraxia, Huntington's disease, dystonia type 1, Wilson’s disease, and some cases of Parkinson's disease.
Keywords: Ataxia, Dystonia, Huntington’s disease, Parkinson’s disease, Wilson’s disease.
Current Genomics
Title:Genetic Variants in Diseases of the Extrapyramidal System
Volume: 15 Issue: 1
Author(s): Anna Oczkowska, Wojciech Kozubski, Margarita Lianeri and Jolanta Dorszewska
Affiliation:
Keywords: Ataxia, Dystonia, Huntington’s disease, Parkinson’s disease, Wilson’s disease.
Abstract: Knowledge on the genetics of movement disorders has advanced significantly in recent years. It is now recognized that disorders of the basal ganglia have genetic basis and it is suggested that molecular genetic data will provide clues to the pathophysiology of normal and abnormal motor control. Progress in molecular genetic studies, leading to the detection of genetic mutations and loci, has contributed to the understanding of mechanisms of neurodegeneration and has helped clarify the pathogenesis of some neurodegenerative diseases. Molecular studies have also found application in the diagnosis of neurodegenerative diseases, increasing the range of genetic counseling and enabling a more accurate diagnosis. It seems that understanding pathogenic processes and the significant role of genetics has led to many experiments that may in the future will result in more effective treatment of such diseases as Parkinson’s or Huntington’s. Currently used molecular diagnostics based on DNA analysis can identify 9 neurodegenerative diseases, including spinal cerebellar ataxia inherited in an autosomal dominant manner, dentate-rubro-pallido-luysian atrophy, Friedreich’s disease, ataxia with oculomotorapraxia, Huntington's disease, dystonia type 1, Wilson’s disease, and some cases of Parkinson's disease.
Export Options
About this article
Cite this article as:
Oczkowska Anna, Kozubski Wojciech, Lianeri Margarita and Dorszewska Jolanta, Genetic Variants in Diseases of the Extrapyramidal System, Current Genomics 2014; 15 (1) . https://dx.doi.org/10.2174/1389202914666131210213327
DOI https://dx.doi.org/10.2174/1389202914666131210213327 |
Print ISSN 1389-2029 |
Publisher Name Bentham Science Publisher |
Online ISSN 1875-5488 |
Call for Papers in Thematic Issues
Advanced Computational Algorithms and Artificial Intelligence in Clinical Pharmacogenomics
In the era of personalized medicine, understanding the relationship between genetics and drug response is crucial. This issue delves into innovative methodologies, leveraging deep computational analysis and artificial intelligence, to enhance the field of Clinical Pharmacogenomics. The interdisciplinary approach harnesses the power of advanced high-throughput genotyping technologies, sophisticated computational analysis, ...read more
Applications of Single-cell Sequencing Technology in Reproductive Medicine
Single cell sequencing (SCS) technology utilizes individual cells' genetic material to sequence their genome, transcriptome, and epigenetics at the molecular level. It offers insights into cell heterogeneity and enables the study of limited biological materials. Since its recognition as a valuable technique in 2011, single cell sequencing has yielded numerous ...read more
Big Data in Cancer Research
Cancer is a significant threat to human life and health, remaining a highly aggressive killer. It is a leading cause of death worldwide and represents a crucial medical issue for humanity. However, in the past decade, the effectiveness of new synthetic anticancer agents has not matched the current clinical speculation. ...read more
Current Genomics in Cardiovascular Research
Cardiovascular diseases are the main cause of death in the world, in recent years we have had important advances in the interaction between cardiovascular disease and genomics. In this Research Topic, we intend for researchers to present their results with a focus on basic, translational and clinical investigations associated with ...read more
Related Journals
- 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
-
Advanced Magnetic Resonance Imaging Techniques in the Preterm Brain: Methods and Applications
Current Pediatric Reviews Clear Cell Renal Cell Cancer Tumor-Propagating Cells: Molecular Characteristics
Current Signal Transduction Therapy Botulinum Toxin Treatment of Pelvic Floor Disorders and Genital Pain in Women
Current Women`s Health Reviews Novel Patents and Cancer Therapies for Transforming Growth Factor- Beta and Urokinase Type Plasminogen Activator: Potential Use of Their Interplay in Tumorigenesis
Recent Patents on Anti-Cancer Drug Discovery Sudden Infant Death Syndrome from Epidemiology to Pathophysiology
Current Pediatric Reviews Diagnosis and Therapeutic Approaches to Transthyretin Amyloidosis
Current Medicinal Chemistry Should Arterial Embolization in Recurrent Spontaneous Hemoph ilic Hemarthroses Refractory to Intensive Prophylaxis be the First Invas ive Resort?
Cardiovascular & Hematological Disorders-Drug Targets The Role of Physical Activity in the Development and Prevention of Overweight and Obesity in Childhood
Current Nutrition & Food Science Synaptic Activity-Regulated Wnt Signaling in Synaptic Plasticity, Glial Function and Chronic Pain
CNS & Neurological Disorders - Drug Targets ENaC Regulation by Proteases and Shear Stress
Current Molecular Pharmacology Processed Foods, Dysbiosis, Systemic Inflammation, and Poor Health
Current Nutrition & Food Science FMRI of the Emotions: Towards an Improved Understanding of Amygdala Function
Current Medical Imaging Challenge and Therapeutic Studies Using Alpha-Methyl-para-Tyrosine (AMPT) in Neuropsychiatric Disorders: A Review
Central Nervous System Agents in Medicinal Chemistry A New Frontier in the Treatment of Cancer: NK-1 Receptor Antagonists
Current Medicinal Chemistry Safety and Efficacy of Levetiracetam for the Management of Levodopa- Induced Dyskinesia in Patients with Parkinson’s Disease: A Systematic Review
CNS & Neurological Disorders - Drug Targets Fragile X Syndrome and Autism: Common Developmental Pathways?
Current Pediatric Reviews Mucoadhesive Nanoparticulate System for Oral Drug Delivery: A Review
Current Drug Therapy Current Updates on Bone Grafting Biomaterials and Recombinant Human Growth Factors Implanted Biotherapy for Spinal Fusion: A Review of Human Clinical Studies
Current Drug Delivery Ceramide-Based Therapeutics for the Treatment of Cancer
Anti-Cancer Agents in Medicinal Chemistry Lanthionine Synthetase Component C-Like Protein 2: A New Drug Target for Inflammatory Diseases and Diabetes
Current Drug Targets