Neuroferritinopathy

Neuroferritinopathy is a rare, inherited, neurodegenerative disease characterized by the accumulation of iron in the brain. It is a type of neurodegeneration with brain iron accumulation (NBIA) and is caused by mutations in the Ferritin Light Chain (FTL) gene.

Symptoms

The symptoms of neuroferritinopathy typically begin in adulthood and progress slowly over time. They include dystonia (involuntary muscle contractions), chorea (involuntary, rapid, jerky movements), and parkinsonism (symptoms similar to Parkinson's disease such as tremors, slow movement, and stiffness). Cognitive decline and psychiatric symptoms may also occur.

Genetics

Neuroferritinopathy is caused by mutations in the FTL gene, which provides instructions for making a protein called ferritin light chain. This protein is a subunit of the ferritin protein, which stores iron in cells and releases it in a controlled manner. Mutations in the FTL gene disrupt the normal function of ferritin, leading to an accumulation of iron in the brain.

Diagnosis

Diagnosis of neuroferritinopathy is based on clinical examination, family history, and genetic testing. Magnetic Resonance Imaging (MRI) may show iron accumulation in the brain.

Treatment

There is currently no cure for neuroferritinopathy. Treatment is symptomatic and supportive, and may include medications to manage movement symptoms and physical therapy to improve mobility and strength.

See also

• Neurodegeneration with brain iron accumulation
• Ferritin Light Chain
• Dystonia
• Chorea
• Parkinsonism

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