Iron overload without the C282Y mutation in patients with epilepsy

Abstract

To test the hypothesis that iron overload predisposes to epilepsy, transferrin saturation in 130 patients with epilepsy and sex and age matched 128 control subjects without epilepsy were studied. Mean transferrin saturation was significantly higher in the epilepsy group (39.9 (SD 19.6)%) than in the control group (29.1 (SD 14.9)%). Abnormally high transferrin saturations (men>60%, women>48%) were found in 10 patients with epilepsy but in only one subject without epilepsy. Antiepileptic drugs did not aVect the transferrin saturation. Of the 11 with abnormally high transferrin saturation, two with epilepsy were heterozygotic for H63D in the haemochromatosis gene but no patient had the C282Y mutation. These results indicate that iron overload other than the C282Y mutation underlies epilepsy. (J Neurol Neurosurg Psychiatry 2001;70:551-553)

Diffusion tensor imaging abnormalities in photosensitive juvenile myoclonic epilepsy

“…Another recent study on microstructural changes in JME revealed increased FA and volume alterations in the putamen relative to healthy controls [17], possibly caused by alterations of the local iron concentration, which are reported to associate with FA variations in the putamen [31]. Additionally, Keller et al [17] showed correlations between increased putamen FA and decreased thalamo-cortical WM FA.…”

Iron loading in humans: A risk factor for enhanced morbidity and mortality

“…basal ganglia in Hallervorden-Spatz (PKAN) disease [21] hepatocytes in viral-and steato-hepatitis [22,23] retina in macular degeneration [24] mitochondria in Friedreich's ataxia [25] pulmonary secretions in cystic fibrosis [26] substantia nigra in Parkinson's disease [27] Body iron loading is associated with above-normal incidence of: amyotrophic lateral sclerosis [28] atherosclerosis [29] colorectal cancer [30] Down syndrome [31] epilepsy [32] hypertension [33] pre-eclampsia [34] porphyria cutanea tarda [35] sudden infant death syndrome [36] Maternal antibodies can impair fetal iron metabolism fetal or neonatal death in neonatal hemochromatosis [37] elevated iron level had significantly more aortic atherosclerosis than rabbits that were above normal in either one of the two factors [43]. Nevertheless, in patients with a common cause of iron loading, i.e.…”

Iron Out-of-Balance: A Risk Factor for Acute and Chronic Diseases

“…• amyotrophic lateral sclerosis (17), breast cancer (26), colorectal cancer (27), depression (19), Down's syndrome (37), epilepsy (38), hypertension (3), ischemic stroke (4), leukemia (29), pre-eclampsia (25), porphyria cutanea tarda (6), sudden infant death syndrome (39), venous leg ulcer (5). 5) Maternal antibodies can impair fetal iron metabolism:…”