TY - JOUR
T1 - Will genotype drive treatment options?
AU - Brüggemann, Norbert
AU - Klein, Christine
N1 - Publisher Copyright:
© 2019 International Parkinson and Movement Disorder Society
Copyright:
Copyright 2019 Elsevier B.V., All rights reserved.
PY - 2019/9/1
Y1 - 2019/9/1
N2 - Individual genetic variation can have a major impact on the clinical manifestation of a movement disorder and its response to treatment. Advances in gene discovery and increasing availability of diagnostic genetic testing have led to the identification of a growing number of patients with well-defined hereditary movement disorders. Establishing a genetic diagnosis may greatly impact patient counseling and shape therapeutic decisions. Further, assignment of a movement disorder to a specific genetic defect holds promise for the development of causal treatment approaches and individualized therapies, especially as the first gene-targeted approaches have recently entered clinical trials. However, important gaps remain, that is, genetic testing results are often inconclusive, gene-specific treatment options are still exceedingly rare, and designing clinical trials to demonstrate disease modification continues to pose a major challenge. © 2019 International Parkinson and Movement Disorder Society.
AB - Individual genetic variation can have a major impact on the clinical manifestation of a movement disorder and its response to treatment. Advances in gene discovery and increasing availability of diagnostic genetic testing have led to the identification of a growing number of patients with well-defined hereditary movement disorders. Establishing a genetic diagnosis may greatly impact patient counseling and shape therapeutic decisions. Further, assignment of a movement disorder to a specific genetic defect holds promise for the development of causal treatment approaches and individualized therapies, especially as the first gene-targeted approaches have recently entered clinical trials. However, important gaps remain, that is, genetic testing results are often inconclusive, gene-specific treatment options are still exceedingly rare, and designing clinical trials to demonstrate disease modification continues to pose a major challenge. © 2019 International Parkinson and Movement Disorder Society.
UR - http://www.scopus.com/inward/record.url?scp=85064166503&partnerID=8YFLogxK
UR - http://www.mendeley.com/research/genotype-drive-treatment-options
U2 - 10.1002/mds.27699
DO - 10.1002/mds.27699
M3 - Journal articles
AN - SCOPUS:85064166503
SN - 0885-3185
VL - 34
SP - 1294
EP - 1299
JO - Movement Disorders
JF - Movement Disorders
IS - 9
ER -