Neurodegeneration with brain iron accumulation 4

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.

Also known as: C19orf12 neurodegeneration with brain iron accumulation, MPAN, NBIA due to C19orf12 mutation, NBIA4, mitochondrial Protein-associated neurodegeneration, neurodegeneration with brain iron accumulation 4, neurodegeneration with brain iron accumulation caused by mutation in C19orf12, neurodegeneration with brain iron accumulation due to C19orf12 mutation

13 clinical trials for this condition and its sub-types, 0 tagged with Neurodegeneration with brain iron accumulation 4 itself.