Neuroferritinopathy

Neuroferritinopathy is a genetic neurodegenerative disorder in which iron accumulates in the basal ganglia, the cerebellum and the motor cortex of the human brain. The symptoms are extrapyramidal in nature, meaning they affect the control of movement, and they progress slowly. They generally do not become apparent until adulthood. The features described for the condition include chorea, which is involuntary jerking movement, dystonia, which is sustained abnormal muscle contraction and posture, and cognitive deficits, and all of these worsen with age. The condition belongs with the disorders of brain iron accumulation, and it is recorded in the atlas as a hereditary disease of the nervous system for readers who want to understand how a single inherited disorder can produce a progressive movement disorder. This entry does not give medical advice.