Susceptibility genes in movement disorders.
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.
Scholz
Sonja
S
Molecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA.|Department of Molecular Neuroscience, Institute of Neurology, Queen Square House, London, United Kingdom.
Singleton
Andrew
A
Molecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA.
D000483:Alleles; D002869:Chromosome Aberrations; D008040:Genetic Linkage / Q000235:genetics; D020022:Genetic Predisposition to Disease; D023281:Genomics / Q000379:methods; D005838:Genotype; D006801:Humans; D018832:Molecular Chaperones / Q000235:genetics; D009069:Movement Disorders / Q000235:genetics*; D010641:Phenotype; D017354:Point Mutation / Q000235:genetics
D018832:Molecular Chaperones; C108175:TOR1A protein, human