MEPAN Page Added to Website

Approximately two years ago, our team worked with researchers in Israel and several other countries to discover a new disease-causing gene called MECR. Mutations in this gene cause a condition that we named MEPAN, which stands for “mitochondrial enoyl CoA reductase protein-associated neurodegeneration.” Although MEPAN does not cause brain iron accumulation, both the symptoms and the brain regions involved overlap with NBIA disorders. Therefore, we consider MEPAN a NBIA “mimic” and the individuals who have MEPAN as part of the NBIA community. Last year we wrote an article describing the 20 year journey it took for one NBIA community member, who many of you know well, to receive a diagnosis of MEPAN. You can read that article here:

We’ve now added a page all about MEPAN to our website. We started with just one person, but now there are 13 individuals with confirmed MEPAN diagnoses around the world. We imagine this number will continue to grow as more individuals with unknown diagnoses have whole exome sequencing completed or have their previous whole exome sequencing reanalyzed. There is so little information currently available about this ultra-rare condition that we hope this page will help individuals who are newly diagnosed learn more about MEPAN.