Dementia associated with haemochromatosis: a report of two cases

Abstract

Two patients presenting to a pre-senile dementia clinic with dementia were also found to have genetic haemochromatosis. In both instances the haemochromatosis was mild and the cognitive dysfunction could not be attributed to hepatic failure. The association of these uncommon diseases may reflect genetic linkage.

Clinical report of three patients with hereditary hemochromatosis and movement disorders

“…This includes a series of 11 patients 9 and a recent report of two cases. 10 Table 2 presents four documented cases among the five main reported observations of HH with wellidentified movement disorders. We provide three additional cases with the first time proven C282Y mutation.…”

Imaging iron stores in the brain using magnetic resonance imaging

“…Hemochromatosis is a liver iron-overload disease that may also result in excessive brain-iron accumulation and potential vulnerability to brain dysfunction and dementia [71,91]. Most people with hemochromatosis carry one or more genetic mutations in the hemochromatosis (HFE) gene.…”

Chronic cerebellar ataxia and hereditary hemochromatosis: causal or coincidental association?

“…The genetic defect has been localized to chromosome 6p21.3, with most of the time homozygous HFE C282Y mutation. Central nervous system (CNS) manifestations rarely occur in patients with HH and there are only 14 cases reported in the literature between 1983 and 2004 [1][2][3][4][5][6][7]. They included cognitive decline [1,[3][4][5], parkinsonism [1-3, 6, 7], ataxia [1,3,5,6], myoclonus, dystonia, and postural and action tremor [5].…”

“…Furthermore, 6 out of 14 HH-patients without neurological manifestations showed these signal patterns on MRI [10]. However, neuropathological studies are lacking and MRI findings suggestive of iron deposits are not always observed in HH-patients with CNS manifestations [4][5][6][7].…”