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

Rutgers, Matthieu Pierre; Pielen, Amelie; Gille, M.

doi:10.1007/s00415-006-0507-2

Cited by 17 publications

(28 citation statements)

References 10 publications

(15 reference statements)

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“…Evidence from case studies suggests that some hemochromatosis patients also have abnormal iron accumulation in the brain, particularly in the basal ganglia (Nielsen et al, 1995;Berg et al, 2000;Rutgers et al, 2007) and choroid plexus, pituitary, periventricular and perivascular regions (reviewed (Russo et al, 2004)). However there have been few, if any, studies of brain iron levels in large cohorts of hemochromatosis patients.…”

Section: Introductionmentioning

confidence: 99%

Brain transcriptome perturbations in the transferrin receptor 2 mutant mouse support the case for brain changes in iron loading disorders, including effects relating to long-term depression and long-term potentiation

et al. 2013

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were increased in all models or decreased in all models). Comparison of the two models of hereditary hemochromatosis, which showed more pronounced changes than the dietary ironsupplemented mice, revealed numerous common molecular effects. Pathway analyses highlighted changes for genes relating to long-term depression (6.8-fold enrichment, p=5.4x10 -7 ) and, to a lesser extent, long-term potentiation (3.7-fold enrichment, p=0.01), with generalized reductions in transcription of key genes from these pathways, which are involved in modulating synaptic strength and efficacy and are essential for memory and learning. The agreement across the models suggests the findings are robust and strengthens previous evidence that iron loading disorders affect the brain. Perturbations of brain phenomena such as long-term depression and long-term potentiation might partly explain neurologic symptoms reported for some hemochromatosis patients.4

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Section: Introductionmentioning

confidence: 99%

Brain transcriptome perturbations in the transferrin receptor 2 mutant mouse support the case for brain changes in iron loading disorders, including effects relating to long-term depression and long-term potentiation

et al. 2013

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“…3 Haemochromatosis rarely presents with CNS manifestations. 4,5 However, there have been several cases reported in recent literature. One such case report discussed cognitive decline in association with haemochromatosis.…”

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confidence: 88%

Haemochromatosis and dementia: cause or contributor?

Hanmanthraya¹,

Byrne²

2015

Prog. Neurol. Psychiatry

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“…Yet, although there have been several case reports of hemochromatosis patients with movement disorders (Demarquay et al. 2006; Rutgers et al. 2007), it has been argued that the movement impairment in these patients is not attributable to hemochromatosis (Russo et al.…”

Section: Other Evidence For Involvement Of Iron In Neurodegenerationmentioning

confidence: 99%

Molecular genetic approaches to understanding the roles and regulation of iron in brain health and disease

Johnstone

Milward

2010

Journal of Neurochemistry

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Abbreviations used: IRE, iron-responsive element; IRP, iron regulatory protein; MRI, magnetic resonance imaging; NBIA, neurodegeneration with brain iron accumulation; PANK2, pantothenate kinase 2. AbstractIron is essential in the brain, yet too much iron can be toxic. Tight regulation of iron in the brain may involve intrinsic mechanisms that control internal homeostasis independent of systemic iron status. Iron abnormalities occur in various neurological disorders, usually with symptoms or neuropathology associated with movement impairment or behavioral disturbances rather than cognitive impairment or dementia. Consistent with this, polymorphisms in the HFE gene, associated with the iron overload disorder hemochromatosis, show stronger associations with the movement disorder amyotrophic lateral sclerosis (motor neuron disease) than with cognitive impairment. Such associations may arise because certain brain regions involved in movement or executive control are particularly iron-rich, notably the basal ganglia, and may be highly reliant on iron. Various mechanisms, including iron redistribution causing functional iron deficiency, lysosomal and mitochondrial abnormalities or oxidative damage, could underlie iron-related neuropathogenesis. Clarifying how iron contributes causatively to neurodegeneration may improve treatment options in a range of neurodegenerative disorders. This review considers how modern molecular genetic approaches can be applied to resolve the complex molecular systems and pathways by which brain iron homeostasis is regulated and the molecular changes that occur with iron dyshomeostasis and neuropathogenesis.

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

Cited by 17 publications

References 10 publications

Brain transcriptome perturbations in the transferrin receptor 2 mutant mouse support the case for brain changes in iron loading disorders, including effects relating to long-term depression and long-term potentiation

Brain transcriptome perturbations in the transferrin receptor 2 mutant mouse support the case for brain changes in iron loading disorders, including effects relating to long-term depression and long-term potentiation

Haemochromatosis and dementia: cause or contributor?

Molecular genetic approaches to understanding the roles and regulation of iron in brain health and disease

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