neurodegeneration with brain iron accumulation 4

Rare Disease

MONDO:0013674

Also Known As

C19orf12 neurodegeneration with brain iron accumulationMPANNBIA due to C19orf12 mutationNBIA4mitochondrial Protein-associated neurodegenerationneurodegeneration with brain iron accumulation 4neurodegeneration with brain iron accumulation caused by mutation in C19orf12neurodegeneration with brain iron accumulation due to C19orf12 mutationneurodegeneration with brain iron accumulation type 4mitochondrial membrane protein-associated neurodegeneration

Definition

Mitochondrial membrane protein-sssociated neurodegeneration (MPAN), also known as neurogeneration with brain iron accumulation (NBIA) due to C19orf12 mutations, is an autosomal recessive neurodegenerative disorder characterized by iron accumulation in specific regions of the brain, usually the basal ganglia, and associated with slowly progressive pyramidal (spasticity) and extrapyramidal (dystonia) signs, motor axonal neuropathy, optic atrophy, cognitive decline, and neuropsychiatric abnormalities.