Conditions / Genetic
neurodegeneration with brain iron accumulation 3
info · Genetic
A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal dominant inheritance of mutation in the FTL gene on chromosome 19q13.33.
Signs and symptoms
- Dystonia
- Decreased circulating ferritin concentration
- Chorea
- Dysarthria
- Mutism
- Rigidity
- Ataxia
- Neurodegeneration
- Laryngeal dystonia
- Subcortical dementia
Also known as: Adult basal ganglia disease; Ferritin-related neurodegeneration; Hereditary ferritinopathy; NBIA3; Neuroferritinopathy