Retrospective analysis of 17 patients with Mitochondrial Membrane Protein-Associated Neurodegeneration diagnosed in Russia

Mitochondrial membrane protein-associated neurodegeneration (MPAN) is a rare neurological syndrome caused by pathogenic variants in the C19orf12 and is characterized by iron deposition in the basal ganglia and substantia nigra. Only a limited number of cohort studies were published to date and the prevalence of MPAN remains uncertain.

Source: Parkinsonism and Related Disorders - February 9, 2021 Category: Neurology Authors: Peter Sparber, Tatiana Krylova, Svetlana Repina, Nina Demina, Galina Rudenskaya, Inna Sharkova, Artem Sharkov, Vitali Kadishev, Ilya Kanivets, Sergey Korostelev, Ekaterina Pomerantseva, Vladimir Kaimonov, Svetlana Mikhailova, Ekaterina Zakharova, Mikhail Source Type: research