How have advances in genetic technology modified movement disorder nosology?

STURCHIO, A.; MARSILI, L.; MAHAJAN, A.; GRIMBERG, M. B.; KAUFFMAN, M. A.; ESPAY, A. J.

EUROPEAN JOURNAL OF NEUROLOGY

WILEY-BLACKWELL PUBLISHING, INC

Año: 2020 vol. 27 p. 1461 - 1470

1351-5101

The role of genetics and its technological development have been fundamental in advancing the field of movement disorders, opening the door to precision medicine. Starting from the revolutionary discovery of the locus of the Huntington?s disease gene, we review the milestones of genetic discoveries in movement disorders and their impact on clinical practice and research efforts. Before the 1980s, early techniques did not allow the identification of genetic alteration in complex diseases. Further advances increasingly defined a large number of pathogenic genetic alterations. Moreover, these techniques allowed epigenomic, transcriptomic and microbiome analyses. In the 2020s, these new technologies are poised to displace phenotype‐based classifications towards a nosology based on genetic/biological data. Advances in genetic technologies are engineering a reversal of the phenotype‐to‐genotype order of nosology development, replacing convergent clinicopathological disease models with the genotypic divergence required for future precision medicine applications.