Hereditary disorders of the nervous system from anatomo-clinical studies to molecular biology.
Hereditary disorders of the nervous system have been defined in the past by their main clinical and neuropathological features. The genetic approach has evolved from the traditional collection of pedigrees to molecular biology techniques which nowadays identify the responsible genes, recognize their defects and describe the gene products. We illustrate these changes by a few examples from the group of spinocerebellar atrophies, hereditary motor and sensory neuropathies and Alzheimer's disease. Modern neurology has found in molecular biology an extremely powerful tool to study the hereditary disorders of the nervous system.
Martin
J J
JJ
Born-Bunge Foundation, Universitaire Instelling Antwerpen, Wilrijk, Belgium.
D000544:Alzheimer Disease / Q000235:genetics; D002524:Cerebellar Ataxia / Q000235:genetics; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics; D002886:Chromosomes, Human, Pair 17; D005821:Genetic Techniques; D015417:Hereditary Sensory and Motor Neuropathy / Q000235:genetics*; D006801:Humans; D009849:Olivopontocerebellar Atrophies / Q000235:genetics; D010641:Phenotype; D017354:Point Mutation; D013132:Spinocerebellar Degenerations / Q000235:genetics