[Neurogenetics. Part 3. New developments in gene mapping and diagnosis]

Abstract

In the past year, the molecular genetic analysis of hereditary neurological diseases has expanded our knowledge of these disorders considerably. Additional genes for mendelian disorders were mapped. They include a form of familial Alzheimer's disease, progressive myoclonic epilepsy of the Unverricht-Lundborg type, and limb girdle muscular dystrophy. For a number of diseases, such as myotonic dystrophy, a form of Charcot-Marie-Tooth's disease, and most recently, Huntington's disease, the causative gene itself and its mutations were identified. These advances broaden the possibilities of molecular genetic diagnosis of hereditary neurological diseases and provide new insight into the molecular pathogenesis of these disorders.