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ORPHA:157846Disease
Also called Adult basal ganglia disease · Ferritin-related neurodegeneration · Hereditary ferritinopathy
What it is
Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA) characterized by progressive chorea or dystonia and subtle cognitive deficits.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Adult
- Inheritance
- Autosomal dominant
- Classified as
- Disease
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
5Common30–79%
19- Abnormal caudate nucleus morphology
- Abnormality of the dentate nucleus
- Abnormal putamen morphology
- Abnormal thalamic MRI signal intensity
- Bradykinesia
- Chorea
- Dysarthria
- Dysphagia
- Dysphonia
- Emotional lability
- Eye of the tiger anomaly of globus pallidus
- Focal dystonia
- Gait disturbance
- Hypomimic face
- Involuntary movements
- Iron accumulation in substantia nigra
- Leg dystonia
- Orofacial dyskinesia
- T2 hypointense thalamus
Sometimes5–29%
12- Arm dystonia
- Blepharospasm
- Brisk reflexes
- Caudate atrophy
- Hyperreflexia in upper limbs
- Impaired smooth pursuit
- Loss of voice
- Lower limb hyperreflexia
and 4 more in this range
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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