Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0007758 (cerebellar ataxia)
3,609 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Hereditary haemochromatosis (HH) is a genetic disorder in which abnormal iron handling leads to excessive iron accumulation in systemic tissues. Magnetic resonance imaging studies suggest excess iron deposition in the basal ganglia of patients with HH. The symptoms of neurological complications of HH include cognitive decline, gait difficulties, cerebellar ataxia, and extrapyramidal dysfunction, but idiopathic Parkinson's disease, in which brain iron deposition is normal, has not been reported. We describe four patients with concurrent HH and IPD. Although three of the cases had risk factors for cerebrovascular and cardiovascular disease, computed tomography did not show ischaemic changes in the basal ganglia. We speculate that in these cases, abnormal deposition of iron in the basal ganglia induced the symptoms of IPD.
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PMID:Concurrent hereditary haemochromatosis and idiopathic Parkinson's disease: a case report series. 1502 13