THE APPLICATION OF METHODS OF MOLECULAR-BIOLOGY GIVES NEW INSIGHTS IN CAUSE AND PROGRESS OF NEUROGENETIC DISEASES

The rapid progress in basic research of molecular biology provides more and more techniques for daily laboratory routine. Identification of the molecular basics of various hereditary diseases allows an understanding of the pathogenesis and often the possibility of predictive diagnosis. An outstanding example is Huntington's chorea; equally, for other diseases of the peripheral nervous system, e. g. the Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathy type I, HMSN type I), it is now possible to perform a predictive analysis as well as an individual diagnosis of affected persons. The so called indirect DNA diagnosis, a genetical examination of several generations of one family, is increasingly replaced by an individual diagnosis for single patients. Time consuming linkage studies which rely on statistical correlations between inheritance of certain markers with a given disease, have been replaced by a direct analysis of pathogenic trinucleotide repeats, e.g. Huntington's chorea. Especially the PCR technique makes this diagnosis easier. The classification of some of the hereditary neurological disorders has to be reexamined. The following article gives an overview of the new developments in neurogenetics.