Journal of Interdisciplinary Genomics

Interdisciplinary Society of Genetic & Genomic Medicine (유전의학융합회)
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Neurodegeneration with Brain Iron Accumulation

  • Lee, Jae-Hyeok (Department of Neurology, Research Institute for Convergence of Biomedical Science and Technology, Pusan National University Yangsan Hospital, Pusan National University School of Medicine)
  • Received : 2020.02.07
  • Accepted : 2020.03.20
  • Published : 2020.04.30
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Abstract

Recent advances in magnetic resonance imaging and identification of causative genes led to the recognition of a new group of disorders named neurodegeneration with brain iron accumulation (NBIA). NBIA is a group of inherited disorders characterized by abnormal iron deposition in the brain, usually in the basal ganglia. The disorder shares the clinical features of movement disorders and is accompanied by varying degrees of neuropsychiatric abnormalities. In this review, the causative genes, clinical presentations, neuroimaging features, and pathological findings are summarized.

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References

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