An Update and Perspectives on Mitochondrial Membrane Protein-Associated Neurodegeneration and <i>C19orf12</i> Research

Abstract

Mitochondrial Membrane Protein-Associated Neurodegeneration is a rare monogenic form of neurodegeneration characterized by iron accumulation in the brain. It is due to variants in the orphan gene C19orf12. Since its definition in 2011, many scientific groups have investigated the clinical features and molecular underpinnings of the disorder. In this review, we summarize the main points of progress in this field, trying to highlight the issues that need further attention and efforts to speed up the diagnostic path, improve the existing treatment options, and define targeted therapies.

Keywords

• Mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN)
• <i>C19orf12</i>
• Neurodegeneration with Brain Iron Accumulation (NBIA)
• movement disorders
• rare hereditary diseases