Genotype-Phenotype Relations for the Dystonia-Parkinsonism Genes <i>GLB1</i>, <i>SLC6A3</i>, <i>SLC30A10</i>, <i>SLC39A14</i>, and <i>PLA2G6</i>: MDSGene Systematic Review.

ABSTRACT: The Movement Disorders Society recommends the DYT/PARK prefix for genes where dystonia and parkinsonism are prominent in approximately half or more of patients. This systematic review explores the genotype-phenotype correlations of GLB1, SLC6A3, SLC30A10, PLA2G6, and SLC39A14-recently classified as DYT SLC39A14 and historically linked to dystonia-parkinsonism. We searched PubMed and the Human Gene Mutation Database using standardized terms, including English-language, peer-reviewed publications up to February 2024. Following the MDSGene protocol, we extracted individual-level data on patients with biallelic pathogenic variants and at least one movement disorder. Features were marked "missing" if not explicitly reported. Of 1828 articles, 128 were e

SUBMITTER: Rodriguez-Antiguedad J 

PROVIDER: S-EPMC12071818 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature