Cognitive event-related potentials in patient with hereditary hemochromatosis: A case report

Abstract

Introduction: Hereditary hemochromatosis is an autosomal recessive disorder, characterized by iron overload and accumulation in liver, pancreas, heart and brain with secondary tissue damage. Mutations in the hemochromatosis gene are commonly associated with hereditary hemochromatosis and consequently iron overload. the 2 most common hemochromatosis gene variants are c282Y and H63D. Hemochromatosis gene mutations are being investigated as genetic risks for neurodegenerative disorders since iron accumulation in the brain are consistent observations in many neurodegenerative diseases. Multiple studies discussed the association between hereditary hemochromatosis and Alzheimer’s disease. Although cognitive impairment is well known feature of hereditary hemochromatosis the exact cause is unknown. cognitive event-related potentials are method for testing higher cognitive functions. It allows completely non-invasive insight into cognitive processes, in particular through the display of the timeliness of the cognitive process, because the method has a very high temporal resolution. the changes in cognitive event-related potentials are characteristics for Alzheimer’s disease. case report: We present for the first time results Natasa Klepac1, Magdalena Krbot Skoric1, Natalia Palac1, Petra Nimac Kozina1, Ivan Adamec1 Affiliations: 1Department of Neurology, University Hospital Center Zagreb, Kispaticeva, Zagreb, Croatia. Corresponding Author: Natasa Klepac, Department of Neurology, University Hospital Center Zagreb, Kispaticeva 12, Zagreb, Croatia; Email: natasaklepac@gmail.com Received: 24 November 2014 Accepted: 22 January 2015 Published: 15 April 2015 of cognitive event-related potentials in case of a patient with hereditary hemochromatosis. Patient is homozygous for the c282Y variant of hemochromatosis protein mutation gene and has positive family history for dementia. cognitive event-related potentials showed reduced amplitude and prolonged latency of response which was similar to changes observed in Alzheimer’s disease patients. conclusion: Neuro-electrophysiological changes observed in our patient with hereditary hemochromatosis and cognitive impairment were similar to that observed Alzheimer’s disease patients. based on our findings hereditary hemochromatosis and Alzheimer’s disease share the same neurophysiological characteristics indicating that impairment of iron homeostasis may be underlining cognitive impairment in both disorders.