Rare diseases

Neuroferritinopathy

We are eager to meet patients in Cumbria diagnosed with Neuroferritinopathy to understand what challenges they face and how the Alliance can help.

Neuroferritinopathy or adult-onset basal ganglia disease is a genetic neurodegenerative disorder characterized by the accumulation of iron in the basal gangliacerebellum, and motor cortex of the human brain. Symptoms, which are extrapyramidal in nature, progress slowly and generally do not become apparent until adulthood.[1] These symptoms include choreadystonia, and cognitive deficits which worsen with age.[2][3]

Neuroferritinopathy
Cerebellum and basal ganglia

Advertisements