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Neuroferritinopathy
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Condition

Neuroferritinopathy

Neuroferritinopathy is a rare genetic disorder characterized by the gradual accumulation of iron in the brain, particularly affecting regions that control movement. This leads to progressive movement problems and can also cause cognitive and personality changes, typically beginning around age 40.

Overview

Neuroferritinopathy is a disorder in which iron gradually accumulates in the brain. Certain brain regions that help control movement (basal ganglia) are particularly affected. People with neuroferritinopathy have progressive problems with movement that begin at about age 40. These movement problems can include involuntary jerking motions (chorea), rhythmic shaking (tremor), difficulty coordinating movements (ataxia), or uncontrolled tensing of muscles (dystonia). Symptoms of the disorder may be more apparent on one side of the body than on the other. Affected individuals may also have difficulty swallowing (dysphagia) and speaking (dysarthria).

Intelligence is unaffected in most people with neuroferritinopathy, but some individuals develop a gradual decline in thinking and reasoning abilities (dementia). Personality changes such as reduced inhibitions and difficulty controlling emotions may also occur as the disorder progresses.

Frequency

The prevalence of neuroferritinopathy is unknown. Fewer than 100 individuals with this disorder have been reported.</

Frequently Asked Questions

Diagnosing neuroferritinopathy often involves a combination of clinical evaluation, neuroimaging, and genetic testing. An MRI of the brain can reveal characteristic iron accumulation in the basal ganglia. Blood tests may show low ferritin levels, which is unusual given the iron accumulation in the brain. Definitive diagnosis is made through genetic testing, which identifies mutations in the FTL gene, distinguishing it from other movement disorders with similar symptoms.
Neuroferritinopathy is a progressive disorder, meaning symptoms gradually worsen over time, typically starting around age 40. Individuals can expect increasing challenges with movement, speech, and swallowing. While intelligence is often preserved, some may experience cognitive decline or personality changes. Long-term care often involves a multidisciplinary team to support daily living, manage symptoms, and maintain the best possible quality of life as the disease progresses.
Currently, there is no cure for neuroferritinopathy, and treatments focus on managing symptoms. Medications can help control involuntary movements like chorea or dystonia. Physical therapy, occupational therapy, and speech therapy are crucial to maintain mobility, improve coordination, and address difficulties with swallowing (dysphagia) and speaking (dysarthria). Nutritional support may be needed for individuals with severe dysphagia.
Neuroferritinopathy is inherited in an autosomal dominant pattern. This means that only one copy of the altered FTL gene is sufficient to cause the disorder. If a parent has neuroferritinopathy, each of their children has a 50% chance of inheriting the condition. Genetic counseling is recommended for affected individuals and their families to understand inheritance patterns and discuss potential risks for future generations.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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