Susceptibility genes in movement disorders
Identifieur interne : 002611 ( Main/Curation ); précédent : 002610; suivant : 002612Susceptibility genes in movement disorders
Auteurs : Sonja Scholz [États-Unis, Royaume-Uni] ; Andrew Singleton [États-Unis]Source :
- Movement Disorders [ 0885-3185 ] ; 2008-05-15.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
- Alleles, Chromosome Aberrations, Genetic Linkage (genetics), Genetic Predisposition to Disease, Genetic linkage, Genome, Genomics (methods), Genotype, Humans, Molecular Chaperones (genetics), Movement Disorders (genetics), Nervous system diseases, Phenotype, Point Mutation (genetics), candidate gene, linkage study, movement disorder, susceptibility gene, whole genome association study.
- MESH :
- chemical , genetics : Molecular Chaperones.
- genetics : Genetic Linkage, Movement Disorders, Point Mutation.
- methods : Genomics.
- Alleles, Chromosome Aberrations, Genetic Predisposition to Disease, Genotype, Humans, Phenotype.
Abstract
During the last years, remarkable progress in our understanding of molecular genetic mechanisms underlying movement disorders has been achieved. The successes of linkage studies, followed by positional cloning, have dominated the last decade and several genes underlying monogenic disorders have been discovered. The pathobiological understanding garnered from these mutations has laid the foundation for much of the search for genetic loci that confer risk for, rather than cause, disease. With the introduction of whole genome association studies as a novel tool to investigate genetic variation underlying common, complex diseases, a new era in neurogenomics has just begun. As the field rapidly moves forward several new challenges and critical questions in clinical care have to be addressed. In this review, we summarize recent advances in the discovery of susceptibility loci underlying major movement disorders, explain the newest methodologies and tools employed for finding and characterizing genes and discuss how insights into the molecular genetic basis of neurological disorders will impact therapeutic concepts in patient care. © 2008 Movement Disorder Society
Url:
DOI: 10.1002/mds.21983
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<front><div type="abstract" xml:lang="en">During the last years, remarkable progress in our understanding of molecular genetic mechanisms underlying movement disorders has been achieved. The successes of linkage studies, followed by positional cloning, have dominated the last decade and several genes underlying monogenic disorders have been discovered. The pathobiological understanding garnered from these mutations has laid the foundation for much of the search for genetic loci that confer risk for, rather than cause, disease. With the introduction of whole genome association studies as a novel tool to investigate genetic variation underlying common, complex diseases, a new era in neurogenomics has just begun. As the field rapidly moves forward several new challenges and critical questions in clinical care have to be addressed. In this review, we summarize recent advances in the discovery of susceptibility loci underlying major movement disorders, explain the newest methodologies and tools employed for finding and characterizing genes and discuss how insights into the molecular genetic basis of neurological disorders will impact therapeutic concepts in patient care. © 2008 Movement Disorder Society</div>
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