1. [Genetic risk variants in Parkinson's disease and other movement disorders]
- Author
-
Brockmann, K. and Lohmann, K.
- Subjects
diagnosis [Dystonia] ,Essential Tremor ,DNA Mutational Analysis ,diagnosis [Movement Disorders] ,Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 ,genetics [Glucosylceramidase] ,genetics [Parkinson Disease] ,Risk Factors ,Restless Legs Syndrome ,Humans ,ddc:610 ,LRRK2 protein, human ,Genetic Association Studies ,genetics [Genetic Diseases, Inborn] ,Movement Disorders ,diagnosis [Essential Tremor] ,genetics [Restless Legs Syndrome] ,Genetic Carrier Screening ,Genetic Diseases, Inborn ,Genetic Variation ,Parkinson Disease ,genetics [Movement Disorders] ,diagnosis [Genetic Diseases, Inborn] ,genetics [Genetic Variation] ,genetics [Dystonia] ,Dystonia ,genetics [Essential Tremor] ,diagnosis [Restless Legs Syndrome] ,Glucosylceramidase ,genetics [Leucine-Rich Repeat Serine-Threonine Protein Kinase-2] ,diagnosis [Parkinson Disease] ,Genome-Wide Association Study - Abstract
Movement disorders are often genetically complex with genetic risk factors playing a major role. For example, monogenic causes of Parkinson's disease (PD) can be found in only 2-5% of patients who often have an early onset (40 years). In the majority of patients, common genetic variants seem to contribute to the disease risk. To date, 24 genetic risk factors have been identified. For restless legs syndrome (RLS), six different risk variants have been reported but no monogenic cause is known yet. For the genetic risk factors of essential tremor and dystonia, which are less well studied, only five and two candidate variants, respectively, have been described but their roles still require independent confirmation. In this review, we provide an overview on the involved genes, their function, and discuss possible, disease mechanism-driven therapies.
- Published
- 2017