Content area
Full Text
Iron accumulation results in the formation of free radicals and subsequent brain injury. 1 Neurological diseases associated with iron overload vary and include asymptomatic deposition of iron in the basal ganglia, 2 psychiatric diseases, 3 mental retardation, 4 parkinsonism, 5 6 dementia, ataxia, and myoclonic jerks. 7 Siderosis in the brain is associated with epilepsy. 8 9 Animal studies suggest that iron accumulation may underlie the pathophysiology of epilepsy. 10 11
The aim of the study was to test the iron metabolism of epileptic patients. Transferrin saturation was measured as an index of iron overload in patients with epilepsy and age and sex matched control subjects. Mutations in the haemochromatosis gene (HFE ) were also examined in patients with high transferrin saturations..
Patients and methods
PATIENTS
A total of 258 subjects were studied, 130 patients with epilepsy (63 men, 67 women, mean age 38.7 (SD 10.3) years) and 128 sex and age matched control subjects without epilepsy (63 men, 65 women, mean age 40.8 (10.3) years). Subjects with pica, and those receiving drugs containing iron, blood transfusions, or alcohol were excluded. None of the subjects studied had haematological diseases or active liver diseases. All subjects, whether epileptic or not, were mentally retarded and cared for by the nursing staff of the Ranzan Institute in Saitama, Japan. All of them could eat and did not receive forced nutrition. Although a quantitative comparison was not made, no obvious difference between the two groups in daily activities was found.
METHODS
Measurement of serum iron, transferrin, and ferritin
Serum samples after an overnight fast were obtained from each subject. Serum iron was measured by standard spectrophotometry. Serum transferrin concentrations were determined by rate immunoturbidimetry on an automated analyser (model TBA-20FR, Toshiba Medical, Tokyo, Japan). Serum ferritin concentrations were measured by chemiluminescence immunoassay (Eiken Chemical Co, Ltd, Tokyo) in patients with high transferrin saturation (men>60%, women>48%).
Identification of the C282Y and H63D mutations in HFE
HFE mutations were also examined in 11 patients with abnormally high transferrin saturation. The mutation study was approved by the ethics committee at Ranzan institute. As the subjects could not understand the explanation of the study due to mental retardation, after detailed explanations of the study written informed consent was obtained from their...