Balazs Szatmari, Peter Balicza, Gyorgy Nemeth and Maria Judit Molnar* Pages 1712 - 1720 ( 9 )
<P>Background: The molecular genetic technologies revolutionized the diagnostics of many disorders. Thanks to the new molecular techniques and the rapid improvement of the information technologies the number of mendelien inherited disorders has increased rapidly in the last five years. The omics era brought radical changes in the understanding of complex disorders and the underlying pathomechanisms. However, in most complex disorders the genome wide association studies could not clarify the genetic background even for disorders where a very strong heritability had been observed. </P><P> Objective: In this paper the changing concept of the neurodegenerative disorders is discussed. The traditional classification of these disorders was purely based on clinical symptoms and morphological signs in the last century. Identifying the signature lesions of various neurodegenerative disorders may reveal a common pathological pathway in these disorders. New neuroimaging methods provided additional tools to assess pathological pathways in vivo already in the early stages of the diseases. Visualizing in vivo amyloid deposits and neuroinflammation improved our understanding of their role in various neurodegenerative disorders. Genetics may be the most precise way to identify the background of these disorders. However, there is only limited number of cases where true association can be proved between the disorder and the genetic mutations. Most of the neurodegenerative disorders seem to be multifactorial and cannot be traced back to one single cause. </P><P> Conclusion: In conclusion, shifting from a classification based on symptomatology only to a modern multidisciplinary approach, based on the constantly evolving panomics findings, would improve our understanding of neurodegenerative diseases and could be the basis of novel therapeutic research.</P>
Omics, classification, neurodegenerative disorders, multidisciplinary approach, genetics, imaging.
Medical Division, Gedeon Richter Plc., Budapest, Institute of Genomic Medicine and Rare Disorders, Semmelweis University, Budapest, Medical Division, Gedeon Richter Plc., Budapest, Institute of Genomic Medicine and Rare Disorders, Semmelweis University, Budapest