Modern applications of neurogenetics

Abstract We have seen an exponential growth in the knowledge of the genetics basis of diseases during the last 50 years. Considering that in about one-third of monogenetic disorders the nervous system is compromised, clinical and molecular neurogenetics have accordingly emerged as an important area in medicine. Therefore, every neurologist, not matter his area or location of practice, ought to know about the clinical and molecular approach for neurogenetic conditions management. The practice of neurogenetics, albeit complex, has turned into a rewarding one because of developments in DNA sequencing technologies and the emergence of therapeutics for some conditions. Recent advances in genetic testing technology have dramatically increased the number of conditions that can be tested for and are leading to reduced cost and improved diagnostic accuracy. Although complex in their phenotypes, neurogenetic patients are usually found under the so-called neurogenetic niches: cerebral palsy, intellectual disability, ataxia, malformations of cortical development, neuromuscular disorders, and early-onset dementias. The practice of neurogenetics is a work of skillful multidisciplinary teams that have as main aim to solve and shorten the many diagnostic odysseys historically suffered by these complex patients.