Movement disorder genetics for the clinician.
- Author:
Aloysius Domingo
- Publication Type:Journal Article
- From:
Philippine Journal of Neurology
2018;21(1):24-29
- CountryPhilippines
- Language:English
-
Abstract:
The contribution of genes to etiology is variable for different movement disorders. Some diseases are by
definition genetic, such as Huntington’s disease. Other disorders such as Parkinson’s disease may have
monogenic causes but are largely the result of nongenetic factors. Dystonia and the atypical parkinsonisms
have high genetic burdens in their etiologies, with reduced penetrance being a common feature. I review
the clinical and molecular features and genotype-phenotype correlations in monogenic causes of autosomal
dominant (SNCA, LRRK2, VPS35) and recessive (PARKIN, PINK1, DJ-1) Parkinson disease, and of isolated
(TOR1A, THAP1, GNAL) and combined (GCH1, TH, ATP1A3, PRKRA, TAF1, SGCE) dystonia. Because the
genetics of movement disorders is complex, genetic testing in aid of clinical diagnosis can only be
recommended for genes that are unequivocally disease causing. However, gene panel testing is slowly
transitioning into clinical utility, heralding the transition of movement disorder genetics from bench to
bedside. This is a shortened version of a book chapter on movement disorder genetics.
- Full text:2024080713125921396PJN 1.pdf
