Neurodegeneration with brain iron accumulation

Neurodegeneration with Brain Iron Accumulation (NBIA) is a group of rare, genetic neurological disorders characterized by the progressive degeneration of the nervous system. These disorders are distinguished by the accumulation of iron in the basal ganglia of the brain, which can be observed through magnetic resonance imaging (MRI).

Symptoms

The symptoms of NBIA vary widely among patients and depend on the specific type of NBIA. Common symptoms include dystonia (involuntary muscle contractions), parkinsonism (symptoms similar to Parkinson's disease), neuropsychiatric abnormalities (such as mood swings or hallucinations), and optic atrophy (loss of vision).

Types

There are several types of NBIA, each with its own unique set of symptoms and genetic causes. These include:

• Pantothenate kinase-associated neurodegeneration (PKAN)
• PLA2G6-associated neurodegeneration (PLAN)
• Mitochondrial-membrane Protein-Associated Neurodegeneration (MPAN)
• Beta-propeller Protein-Associated Neurodegeneration (BPAN)

Diagnosis

Diagnosis of NBIA is typically made through a combination of clinical examination, MRI, and genetic testing. The presence of iron in the basal ganglia is a key diagnostic feature.

Treatment

There is currently no cure for NBIA. Treatment is symptomatic and supportive, and may include medications to manage dystonia and parkinsonism, physical therapy, and other supportive treatments.

See also

• Neurodegeneration
• Iron metabolism
• Basal ganglia

Neurodegeneration with brain iron accumulation Resources
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