Neurodegeneration with brain iron accumulation

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Neurodegeneration with Brain Iron Accumulation (NBIA)

Neurodegeneration with Brain Iron Accumulation (NBIA) is a group of rare, genetic neurological disorders characterized by the progressive degeneration of the nervous system combined with iron accumulation in the brain. Pronounced as "neuro-degeneration with brain iron accumulation", the term is derived from the Greek words "neuron" (nerve), "degeneration" (deterioration or decline), "brain", "iron", and "accumulation".

Definition

NBIA is a term for a group of disorders that are characterized by the abnormal accumulation of iron in the basal ganglia of the brain. The basal ganglia is a group of structures in the brain that help control movement. The iron accumulation leads to progressive neurodegeneration, which is the gradual loss of function or structure of neurons, including death of neurons.

Symptoms

The symptoms of NBIA vary greatly 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, and retinal degeneration (deterioration of the retina in the eye).

Types of NBIA

There are several types of NBIA, including Pantothenate Kinase-Associated Neurodegeneration (PKAN), PLA2G6-Associated Neurodegeneration (PLAN), Beta-propeller Protein-Associated Neurodegeneration (BPAN), and others. Each type is caused by mutations in different genes and has unique symptoms and progression patterns.

Diagnosis

Diagnosis of NBIA is based on clinical examination, neuroimaging studies showing iron accumulation in the basal ganglia, and genetic testing confirming a mutation in one of the known NBIA genes.

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

External links

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