Mitochondrial membrane protein-associated neurodegeneration

Mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN) is a subtype of Neurodegeneration with Brain Iron Accumulation (NBIA), a group of rare, genetic neurological disorders characterized by the progressive degeneration of the nervous system. MPAN is caused by mutations in the C19orf12 gene and is inherited in an autosomal recessive manner.

Symptoms

The symptoms of MPAN typically begin in childhood or early adulthood. Initial symptoms often include dystonia, spasticity, and parkinsonism. As the disease progresses, individuals may develop cognitive decline, psychiatric symptoms, and optic atrophy.

Genetics

MPAN is caused by mutations in the C19orf12 gene. This gene provides instructions for making a protein that is located in the mitochondria, the energy-producing centers of cells. The exact function of the C19orf12 protein is not well understood, but it is thought to play a role in maintaining the health and function of mitochondria.

Diagnosis

Diagnosis of MPAN is based on the presence of characteristic clinical features, MRI findings, and the identification of a mutation in the C19orf12 gene.

Treatment

There is currently no cure for MPAN. Treatment is symptomatic and supportive, and may include medications to manage dystonia, spasticity, and parkinsonism.

Prognosis

The prognosis for individuals with MPAN varies. The disease is progressive, meaning symptoms worsen over time. However, the rate of progression can vary widely among affected individuals.

See also

• Neurodegeneration with Brain Iron Accumulation
• Mitochondrial disease
• C19orf12

NIH genetic and rare disease info

• NIH info on Mitochondrial membrane protein-associated neurodegeneration

Mitochondrial membrane protein-associated neurodegeneration is a rare disease.

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