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Movement Disorders Associated With Hemochromatosis
Niraj Kumar1, Philippe Rizek1, Bekim Sadikovic2
11Department of Clinical Neurological Sciences,Western University,London,ON,Canada.
Summary
Hereditary hemochromatosis (HH) can cause movement disorders like parkinsonism, chorea, and tremor due to brain iron deposition. Non-HFE gene mutations may increase this risk in HH patients.
Area of Science:
- Neurology
- Genetics
- Hematology
Background:
- Hereditary hemochromatosis (HH) is a genetic disorder characterized by excessive iron accumulation, primarily affecting the liver.
- This study investigates the potential link between HH and the development of movement disorders.
Observation:
- A review of 616 HH patients identified three individuals with movement disorders.
- These patients exhibited parkinsonism, chorea, or tremor without other significant systemic manifestations.
Findings:
- All three patients displayed evidence of pathological brain iron deposition, impacting areas like the basal ganglia and substantia nigra.
- Two patients with movement disorders also carried non-HFE gene mutations, in addition to the common C282Y homozygous HFE mutation.
Implications:
- HH should be considered in the differential diagnosis of movement disorders associated with brain iron deposition.
- The findings suggest that non-HFE gene mutations might predispose individuals with HH to neurological iron accumulation.
- This study reports chorea as a novel manifestation of HH.
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