New Research Published in JAMA Neurology: Link Between Iron Accumulation in the Brain and Development of Movement Disorders

LIBR Principal Investigators, Dr. Chun Chieh Fan, M.D., Ph.D. and Wesley Thompson, Ph.D., have co-authored a new paper in JAMA Neurology with collaborators from UCSD, UCSD School of Medicine, UCSF, University of Oslo and Johns Hopkins Bloomberg School of Public Health reporting that individuals with two copies of the hemochromatosis risk gene mutation (one inherited from each parent) show substantial evidence iron buildup in regions of the brain responsible for movement, which may be a risk factor for developing movement disorders, such as Parkinson's Disease. 

Key Points
Question: "To what extent does genetic risk for hemochromatosis affect the brain and contribute to risk for neurological disorders?"

Finding: "In this cross-sectional study that included 836 participants, we found that individuals at high genetic risk for developing hemochromatosis had magnetic resonance imaging scans indicating substantial iron deposition localized to motor circuits of the brain. Further analysis of data for 488 288 individuals revealed that male individuals with high genetic risk for hemochromatosis (but not female individuals) were at 1.80-fold increased risk for developing a movement disorder, with the majority of these individuals not having a concurrent diagnosis for hemochromatosis."
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Meaning: "Genetic risk for hemochromatosis is associated with abnormal iron deposition in motor circuits and increased risk of movement disorders, regardless of formal diagnosis of hemochromatosis, and treatment for hemochromatosis that reduces iron overload may prove beneficial for male individuals at genetic risk for hemochromatosis who have movement disorders."
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Learn more about their groundbreaking research in the full press release from the University of California - San Diego.
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Original research article from JAMA Neurology:
Association of Genetic Variant Linked to Hemochromatosis with Brain Magnetic Resonance Imaging Measures of Iron and Movement Disorders

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