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How have advances in genetic technology modified movement disorder nosology?
Author(s) -
Sturchio A.,
Marsili L.,
Mahajan A.,
Grimberg M. B.,
Kauffman M. A.,
Espay A. J.
Publication year - 2020
Publication title -
european journal of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.881
H-Index - 124
eISSN - 1468-1331
pISSN - 1351-5101
DOI - 10.1111/ene.14294
Subject(s) - nosology , disease , precision medicine , medicine , neuroscience , bioinformatics , biology , genetics , psychiatry , pathology
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.