Mitochondrial Membrane Protein-Associated Neurodegeneration (Q101874)

Mitochondrial-membrane Protein-Associated Neurodegeneration (MPAN) is caused by mutations in the C19orf12 gene. This gene is found on chromosome 19 and is believed to play a role in fatty acid metabolism. It is one of the major forms of NBIA and has distinctive clinical symptoms that differentiate it from other forms of NBIA. 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.