Related Experiment Video
Updated: Aug 22, 2026

Implantation of Osmotic Pumps and Induction of Stress to Establish a Symptomatic, Pharmacological Mouse Model for DYT/PARK-ATP1A3 Dystonia
Published on: September 12, 2020
Adult-onset generalized dystonia due to a mutation in the neuroferritinopathy gene
Pablo Mir1, Mark J Edwards, Andrew R J Curtis
1Sobell Department of Movement Neuroscience and Movement Disorders, Institute of Neurology, Queen Square, London, United Kingdom.
Abstract:
Neuroferritinopathy is a recently recognized autosomal dominant disorder that results in abnormal aggregates of iron and ferritin in the brain due to a mutation in the ferritin light chain gene on chromosome 19q13.3. We present the clinical details of a patient with adult-onset generalized dystonia associated with this mutation. Neuroferritinopathy appears to be a rare disorder; hence, there is a need to report new cases to further our understanding of the clinical phenotype, diagnostic challenges, the course of the condition and imaging characteristics.
Related Concept Videos
Huntington Disease l: Introduction
Alterations in Muscle Tone ll
Alterations in Muscle Tone lll
Parkinson Disease l: Introduction
Parkinson Disease ll: Pathophysiology
Lysosomal Hydrolases
