Mitochondrial membrane protein-associated neurodegeneration

Mitochondrial membrane protein-associated neurodegeneration
Other namesNeurodegeneration with brain iron accumulation 4
SpecialtyNeurology
SymptomsDystonia, parkinsonism, dementia
TypesRecessive, dominant
CausesC19orf12 mutation
Frequency1/1,000,000

Mitochondrial membrane protein-associated neurodegeneration (MPAN) is a genetic neurodegenerative disease that causes dystonia, parkinsonism, and iron accumulation in the brain. It is caused by mutations to the gene C19orf12, which has unknown function. This was originally discovered as an autosomal recessive disorder, caused by individuals having two mutations to the gene C19orf12, but autosomal dominant disease caused by a single mutation in the same gene has also been rarely described. Due to the common features of neurodegeneration, brain iron accumulation, and movement disorder it is classified as a neurodegeneration with brain iron accumulation (NBIA) disorder and another name for the condition is neurodegeneration with brain iron accumulation 4 (NBIA4).