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Updated: Apr 12, 2026
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Assessing Iron Deposition in the Brains of 5xFAD Mice by Perls'/DAB Staining
Published on: May 23, 2025
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C19orf12 gene mutations in patients with neurodegeneration with brain iron accumulation
Monica Gagliardi1, Grazia Annesi1, G Lesca2
1Institute of Molecular Bioimaging and Physiology, National Research Council, Section of Germaneto (CZ), Italy.
Parkinsonism & Related Disorders
|May 13, 2015
Abstract:
A novel subtype of Neurodegeneration with Brain Iron Accumulation (NBIA) recently has been described: mitochondrial membrane protein-associated neurodegeneration (MPAN), caused by mutations of c19orf12 gene. We present phenotypic data and results of screening of C19orf12 in five unrelated NBIA families. Our data led to identify novel pathogenic mutations in C19orf12.
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