The clinical benefit of genetic studies in neurology

In recent years an increasing number of neurogenetic disorders have been de fined at the molecular level, thus making molecular neurogenetics one of th e most active and promising research fields. It is the aim of this review t o familiarize clinical neurologists with some of the complex molecular gene tic methodologies employed in these studies by using several representative neurogenetic diseases as examples. These include muscular dystrophies, tri nucleotide repeat syndromes, hereditary neuropathies (Charcot-Marie-Tooth d isease) and mitochondriopathies. The knowledge of the molecular pathogeneti c mechanisms is not only of immediate diagnostic benefit for an individual patient; it also leads to new classifications of neurogenetic diseases las in the case of Charcot-Marie-Tooth disease) and forms the basis for the dev elopment of new therapeutic strategies.