Retrospective case series investigating mitochondrial membrane protein-associated neurodegeneration

Takeaway

  • Marked differences in clinical phenotype may exist within the same family in mitochondrial membrane protein-associated neurodegeneration (MPAN), a form of the rare, inherited disorder neurodegeneration with brain iron accumulation (NBIA).

Why this matters

  • To date, 10 different genes have been associated with NBIA, potentially explaining the significant clinical heterogeneity observed between different types of NBIA.

  • MPAN, also known as NBIA-4, is a form of NBIA caused by mutations in the C19Orf12 gene; typically, most cases of MPAN have a similar clinical presentation and course, and similar neuropathological features.

  • However, the investigators identified a Hungarian family wherein an autosomal dominant inheritance of MPAN was associated with significant intrafamily heterogeneity.