Movement Disorders Associated With Hemochromatosis.
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.


CONCLUSIONS
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.
1Department of Clinical Neurological Sciences,Western University,London,ON,Canada.
Niraj
N
Kumar
1Department of Clinical Neurological Sciences,Western University,London,ON,Canada.
Philippe
P
Rizek
2Department of Pathology and Laboratory Medicine,Western University,London,ON,Canada.
Bekim
B
Sadikovic
3Division of Gastroenterology,Department of Medicine,Western University,London,ON,Canada.
Paul C
PC
Adams
1Department of Clinical Neurological Sciences,Western University,London,ON,Canada.
Mandar
M
Jog
D000368:Aged; D003342:Corpus Striatum / Q000000981:diagnostic imaging; D005260:Female; D006432:Hemochromatosis / Q000150:complications* / Q000000981:diagnostic imaging / Q000235:genetics; D000071020:Hemochromatosis Protein / Q000235:genetics; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009069:Movement Disorders / Q000150:complications* / Q000000981:diagnostic imaging; D009154:Mutation / Q000235:genetics; D009864:Ontario; D012189:Retrospective Studies; D013378:Substantia Nigra / Q000000981:diagnostic imaging
C103673:HFE protein, human; D000071020:Hemochromatosis Protein

               HFE Gene; Chorea; Hemochromatosis; Parkinsonism; Tremor