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GTR Home > Conditions/Phenotypes > Neurodegeneration with brain iron accumulation 4
Mitochondrial membrane protein-associated neurodegeneration (MPAN) is characterized initially by gait changes followed by progressive spastic paresis, progressive dystonia (which may be limited to the hands and feet or more generalized), neuropsychiatric abnormalities (emotional lability, depression, anxiety, impulsivity, compulsions, hallucinations, perseveration, inattention, and hyperactivity), and cognitive decline. Additional early findings can include dysphagia, dysarthria, optic atrophy, axonal neuropathy, parkinsonism, and bowel/bladder incontinence. Survival is usually well into adulthood. End-stage disease is characterized by severe dementia, spasticity, dystonia, and parkinsonism.

Available tests

37 tests are in the database for this condition.

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Genes See tests for all associated and related genes

  • Also known as: MPAN, NBIA3, NBIA4, SPG43, C19orf12
    Summary: chromosome 19 open reading frame 12

Clinical features


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