Hereditary Disorders of Manganese Metabolism: Pathophysiology of Childhood-Onset Dystonia-Parkinsonism in SLC39A14 Mutation Carriers and Genetic Animal Models.

Abstract excerpt

Over the last decade, several clinical reports have outlined cases of childhood-onset manganese (Mn)-induced dystonia-parkinsonism, resulting from loss-of-function mutations in the Mn influx transporter gene SLC39A14. These clinical cases have provided a wealth of knowledge on Mn toxicity and homeostasis. However, our current understanding of the underlying neuropathophysiology is severely lacking. The recent...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Cation Transport Proteins
• Share to Dystonia