[Neurodegeneration with brain iron accumulation type 4]
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Updated: Nov 4, 2026

Assessing Iron Deposition in the Brains of 5xFAD Mice by Perls'/DAB Staining
Published on: May 23, 2025
N A Skripkina1, A D Chebotareva1, K R Yanin2
1Russian Medical Academy of Continuous Professional Education, Moscow, Russia.
Abstract:
Neurodegeneration with brain iron accumulation (NBIA) is a heterogeneous group of hereditary disorders characterized by iron accumulation in the brain, predominantly affecting the basal ganglia. These conditions present with multisystem clinical manifestations, most notably motor, cognitive, and behavioral disorders. To date, ten variants of NBIA have been identified, with BPAN, PKAN, and PLAN being the most common. This report presents five confirmed cases of type 4 NBIA, termed mitochondrial membrane protein-associated neurodegeneration (MPAN), detailing clinical and neuroimaging findings and its molecular genetic characteristics; MPAN is associated with mutations in the C19orf12 gene encoding a mitochondrial membrane protein.
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