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Movement Disorders Associated With Hemochromatosis

  • Niraj Kumar (a1), Philippe Rizek (a1), Bekim Sadikovic (a2), Paul C. Adams (a3) and Mandar Jog (a1)...

Abstract

Background: Hereditary hemochromatosis (HH) is a genetic disorder causing pathological iron deposition and functional impairment of various organs, predominantly the liver. We assessed patients with HH for the presence of movement disorders. Methods: We reviewed the charts of 616 patients with HH who attended hemochromatosis clinic at London Health Sciences Centre, London, ON, Canada, from 1988 to 2015. Results: We found three HH patients with movement disorders, without any other major systemic manifestation. One had parkinsonism, another had chorea, and the third had tremor. All three patients had evidence of iron deposition in the brain, affecting the basal ganglia in the first two, and the dentate nucleus, red nucleus, and substantia nigra in the third patient. In addition to the C282Y homozygous mutation in the HFE gene, two of our patients had non-HFE gene mutations. Conclusion: HH should be considered in the differential diagnosis of movement disorders with pathological brain iron deposition. We report for the first time chorea in a patient with HH. Non-HFE gene mutations may predispose HH patients to iron deposition in the brain.

Troubles du mouvement associés à l’hémochromatose. Contexte : L’hémochromatose héréditaire (HH) est une maladie génétique qui entraîne des dépôts pathologiques de fer et des altérations fonctionnelles au niveau de différents organes, particulièrement au niveau du foie. Nous avons examiné la présence de troubles du mouvement chez des patients atteints de HH. Méthodologie : Nous avons revu les dossiers de 616 patients atteints de HH traités à la clinique d’hémochromatose du London Health Sciences Centre de London, Ontario, Canada, de 1988 à 2015. Résultats : Nous avons identifié 3 patients atteints de HH qui présentaient des troubles du mouvement sans autre manifestation systémique importante. Un patient présentait du parkinsonisme, un autre de la chorée et le troisième du tremblement. Ces trois patients avaient des dépôts de fer dans le cerveau, soit au niveau des noyaux gris centraux chez les deux premiers et dans le noyau dentelé, le noyau rouge et le locus niger chez le troisième patient. En plus de la mutation homozygote C282Y dans le gène HFE, deux de nos patients avaient des mutations génétiques qui n’étaient pas dans le gène HFE. Conclusion : L’HH devrait être incluse dans le diagnostic différentiel des troubles du mouvement chez les patients qui présentent des dépôts pathologiques de fer dans le cerveau. Nous rapportons pour la première fois de la chorée chez un patient atteint d’HH. Des mutations dans des gènes autres que HFE pourraient prédisposer les patients atteints d’HH à la formation de dépôts de fer dans le cerveau.

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Copyright

Corresponding author

Correspondence to: Mandar Jog, 339 Windermere Road, A10-026, Professor, Clinical Neurological Sciences, London Health Sciences Centre, Western University, London, ON, Canada, N6A 5A5. E-mail: mandar.jog@lhsc.on.ca.

References

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Keywords

Movement Disorders Associated With Hemochromatosis

  • Niraj Kumar (a1), Philippe Rizek (a1), Bekim Sadikovic (a2), Paul C. Adams (a3) and Mandar Jog (a1)...

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