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Hereditary Hemochromatosis Variant Implicated in Iron Deposits in Brain, Male Movement Disorder

In JAMA Neurology, investigators at the University of California, San Diego, the University of Oslo, and other centers retrospectively consider the brain and movement consequences of a variant linked to hereditary hemochromatosis (HH), an iron overload condition inherited in an autosomal recessive manner. Starting with data from almost 488,300 genotyped UK Biobank participants, the team identified 2,889 individuals who were homozygous for a p.C282Y variant linked to HH, including 165 p.C282Y homozygotes and 671 control individuals with corresponding brain magnetic resonance-based neuroimaging profiles. The results suggest that the homozygous version of the HH variant is linked to subcortical motor circuit iron deposits in the brain, while a broader UK Biobank analysis uncovered movement disorders in males carrying two copies of the p.C282Y variant. "Given the success of early treatment of HH in preventing the negative health manifestations of the disease outside of the nervous system, our findings suggest an additional potential benefit to consider in discussions around the public health implications of early genetic screening in populations with a high prevalence of this variant," the authors conclude.