“Case Report: Dystonia from THAP1 Gene Mutation Mimics Neurodegeneration with Brain Iron Accumulation Disorders”

https://pubmed.ncbi.nlm.nih.gov/38094642

The abstract describes a case report of a patient with dystonia caused by a THAP1 gene mutation, which presented similarly to Neurodegeneration with Brain Iron Accumulation (NBIA) disorders.