The importance of genetic testing for dystonia patients and translational research.
Dystonia
Genetic modifiers
Genetic testing
Precision medicine
Journal
Journal of neural transmission (Vienna, Austria : 1996)
ISSN: 1435-1463
Titre abrégé: J Neural Transm (Vienna)
Pays: Austria
ID NLM: 9702341
Informations de publication
Date de publication:
04 2021
04 2021
Historique:
received:
02
03
2021
accepted:
22
03
2021
pubmed:
21
4
2021
medline:
16
10
2021
entrez:
20
4
2021
Statut:
ppublish
Résumé
Genetic testing through a variety of methods is a fundamental but underutilized approach for establishing the precise genetic diagnosis in patients with heritable forms of dystonia. Our knowledge of numerous dystonia-related genes, variants that they may contain, associated clinical presentations, and molecular disease mechanism may have significant translational potential for patients with genetically confirmed dystonia or their family members. Importantly, genetic testing permits the assembly of patient cohorts pertinent for dystonia-related research and developing therapeutics. Here we review the genetic testing approaches relevant to dystonia patients, and summarize and illustrate the multifold benefits of establishing an accurate molecular diagnosis for patients imminently or for translational research in the long run.
Identifiants
pubmed: 33876307
doi: 10.1007/s00702-021-02329-9
pii: 10.1007/s00702-021-02329-9
pmc: PMC8099821
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
473-481Références
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