Article
Genotype-Phenotype Relations for Isolated Dystonia Genes: MDSGene Systematic Review.
Movement disorders : official journal of the Movement Disorder Society - 1 May 2021
Lange Lara M, Junker Johanna, Loens Sebastian, Baumann Hauke, Olschewski Luisa, Schaake Susen, Madoev Harutyun, Petkovic Sonja, Kuhnke Neele, Kasten Meike, Westenberger Ana, Domingo Aloysius, Marras Connie, König Inke R, Camargos Sarah, Ozelius Laurie J, Klein Christine, Lohmann Katja
Abstract excerpt
This comprehensive MDSGene review is devoted to 7 genes - TOR1A, THAP1, GNAL, ANO3, PRKRA, KMT2B, and HPCA - mutations in which may cause isolated dystonia. It followed MDSGene's standardized data extraction protocol and screened a total of ~1200 citations. Phenotypic and genotypic data on ~1200 patients with 254 different mutations were curated and analyzed. There were differences regarding age at onset, site of...
Topics
- Adolescent
- Adult
- Anoctamins
- Apoptosis Regulatory Proteins
- Child
- DNA-Binding Proteins
- Dystonia
- Dystonic Disorders
- Genotype