What question did this study set out to answer?

To characterize the neuropathological features of MPAN in a young adult with a genetic variant.

April 19, 2026Neuropathology and Applied Neurobiology0 citations

Neuropathologic Characterisation of Mitochondrial Membrane Protein–Associated Neurodegeneration (MPAN) With Coexisting α‐Synuclein and Tau Pathology in a Young Adult

LGLaura Gómez-IsazaJohns Hopkins University JRJavier Redding‐OchoaUniversity of Minnesota MLMaria Luongo

Key Points

To characterize the neuropathological features of MPAN in a young adult with a genetic variant.
Conducted autopsy on the subject.
Performed neuropathological examination of the brain.
Identified iron deposition and protein pathologies.
Detected iron deposition in the globus pallidus.
Observed numerous neuroaxonal spheroids.
Found extensive alpha-synuclein pathology in multiple brain regions.
Identified focal tau pathology in the hippocampus and entorhinal cortex.

Abstract

Mitochondrial membrane protein associated neurodegeneration (MPAN) is a rare and genetically defined subtype of neurodegeneration with brain iron accumulation (NBIA) caused by pathogenic variants in C19orf12. We report an autopsy case in a young adult with a homozygous C19orf12 missense variant. Neuropathological examination demonstrated iron deposition within the globus pallidus, widespread neuroaxonal spheroids, and extensive α-synuclein pathology of the brainstem, limbic and neocortical regions. In addition, we identified focal tau pathology in hippocampus, and entorhinal cortex.

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