Neuroferritinopathy

Neurodegeneration with brain iron accumulation is a genetically heterogeneous disorder characterized by progressive iron accumulation in the BASAL GANGLIA and other brain regions, resulting in movements similar to those observed in PARKINSONISM and DYSTONIA. Age at onset, cognitive involvement, and mode of inheritance are variable. NBIA3 is autosomal dominant with age of onset from 13 to 63 years of age and is caused by mutations in the FTL gene. OMIM: 606159

Also Known As:

Basal Ganglia Disease, Adult-Onset; Ferritin-Related Neurodegeneration; Hereditary Ferritinopathy; NBIA3; Neurodegeneration With Brain Iron Accumulation 3

Nervous System Diseases: 14737
- Central Nervous System Diseases: 4371
  - Brain Diseases: 16141
    - Neuroaxonal Dystrophies: 168
      - Neuroferritinopathy: 85
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10634
  - Iron Metabolism Disorders: 91
    - Neuroferritinopathy: 85

Justin R McNally Selected Research

Justin R McNally Research Topics

Disease

Drug/Important Bio-Agent (IBA)