The copper and iron content of brain and liver in the normal and in hepato-lenticular degeneration

Cumings, J. N.

doi:10.1002/jtra.1025

Cited by 32 publications

(47 citation statements)

References 9 publications

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“…While we cannot exclude a reduction in brain tissue water content in conjunction with rising serum and LICs, our postmortem study indicates that to account for the range in R 2 that we observed in the globus pallidus would require a 10% variation in the tissue water content (26). The normal range in the water content for the globus pallidus (74%–76.4%) was reported in one study (27). In our own postmortem study (unpublished data), the water content for control globus pallidus tissue was between 74.2% and 78.3%.…”

Section: Discussionmentioning

confidence: 68%

Relationship between brain R₂ and liver and serum Iron concentrations in elderly men

House

Pierre

Milward

et al. 2010

Magnetic Resonance in Med

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Studies of iron overload in humans and animals suggest that brain iron concentrations may be related in a regionally specific way to body iron status. However, few quantitative studies have investigated the associations between peripheral and regional brain iron in a normal elderly cohort. To examine these relationships, we used MRI to measure the proton transverse relaxation rate (R 2 ) in 13 gray and white matter brain regions in 18 elderly men (average age, 75.5 years) with normal cognition. Brain R 2 values were compared with liver iron concentrations measured using the FerriScan V R MRI technique and serum iron indices. R 2 values in high-iron gray matter regions were significantly correlated (positively) with liver iron concentrations (globus pallidus, ventral pallidum) and serum transferrin saturation (caudate nucleus, globus pallidus, putamen) measured concurrently with brain R 2 , and with serum iron concentrations (caudate nucleus, globus pallidus) measured three years before the current study. Our results suggest that iron levels in specific gray matter brain regions are influenced by systemic iron status in elderly men. Magn Reson Med 63:275-281,

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Section: Discussionmentioning

confidence: 68%

Relationship between brain R₂ and liver and serum Iron concentrations in elderly men

House

Pierre

Milward

et al. 2010

Magnetic Resonance in Med

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“…The discovery of increased copper levels in the brain and liver of Wilson disease (WD) patients led to the introduction of British antilewisite (BAL) and later penicillamineas the first chelating agents for WD. 3 Remarkable progress has been made since, most notably the discovery of ATP7B as the causative WD gene and introduction of other chelating as well as non-chelating agents for its treatment. This review will focus on recent advances in our understanding of WD.…”

Section: Introductionmentioning

confidence: 99%

Wilson's disease and other neurological copper disorders

Bandmann

Weiss

Kaler

2015

The Lancet Neurology

786

534

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Summary The classic copper metabolism disorder, Wilson disease (WD), was first defined in 1912. Both early onset presentations in infancy and late onset manifestations in adults > 70 years are now well recognized. Modern biochemical and genetic prevalence studies suggest that WD may be considerably more common than previously appreciated. Early diagnosis of WD is crucial to ensure that patients can be started on adequate treatment but uncertainty remains about the best possible choice of medication. Direct genetic testing for ATP7B mutations is increasingly available to confirm the clinical diagnosis of WD. WD needs to be differentiated from other conditions that present clinically with hepatolenticular degeneration or share biochemical abnormalities with WD, such as reduced serum cerulo plasmin levels. Disordered copper metabolism is also implied in an increasing number of other neurological conditions, including a subtype of axonal neuropathy due to ATP7A mutations, and the common late-onset neurodegenerative disorders Alzheimer’s disease and Parkinson’s disease.

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“…Wilson’s disease is an autosomal recessively inherited disorder that leads to copper accumulation and, consequently, to hepatic damage and neuropsychological symptoms [1], [2]. The causative mutations affect the copper-transporting P-type ATPase ATP7B, which regulates the hepatic copper metabolism, leading to impaired biliary excretion and the toxic accumulation of copper primarily in the brain and liver (reviewed in [3] and [4]).…”

Section: Introductionmentioning

confidence: 99%

Retinal Neurodegeneration in Wilson’s Disease Revealed by Spectral Domain Optical Coherence Tomography

et al. 2012

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Background/ObjectiveIn addition to cirrhosis of the liver, Wilson’s disease leads to copper accumulation and widespread degeneration of the nervous system. Delayed visual evoked potentials (VEPs) suggest changes to the visual system and potential structural changes of the retina.MethodsWe used the latest generation of spectral domain optical coherence tomography to assess the retinal morphology of 42 patients with Wilson’s disease and 76 age- and sex-matched controls. We measured peripapillary retinal nerve fiber layer (RNFL) thickness and total macular thickness and manually segmented all retinal layers in foveal scans of 42 patients with Wilson’s disease and 76 age- and sex-matched controls. The results were compared with VEPs and clinical parameters.ResultsThe mean thickness of the RNFL, paramacular region, retinal ganglion cell/inner plexiform layer and inner nuclear layer was reduced in Wilson’s disease. VEPs were altered with delayed N75 and P100 latencies, but the N140 latency and amplitude was unchanged. An analysis of the laboratory parameters indicated that the serum concentrations of copper and caeruloplasmin positively correlated with the thickness of the outer plexiform layer and with N75 and P100 VEP latencies.ConclusionNeuronal degeneration in Wilson’s disease involves the retina and changes can be quantified by optical coherence tomography. While the VEPs and the thickness of the outer plexiform layer appear to reflect the current copper metabolism, the thicknesses of the RNFL, ganglion cell/inner plexiform layer, inner nuclear layer and the total paramacular thickness may be the best indicators of chronic neuronal degeneration.

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The copper and iron content of brain and liver in the normal and in hepato-lenticular degeneration

Cited by 32 publications

References 9 publications

Relationship between brain R₂ and liver and serum Iron concentrations in elderly men

Relationship between brain R₂ and liver and serum Iron concentrations in elderly men

Wilson's disease and other neurological copper disorders

Retinal Neurodegeneration in Wilson’s Disease Revealed by Spectral Domain Optical Coherence Tomography

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The copper and iron content of brain and liver in the normal and in hepato-lenticular degeneration

Cited by 32 publications

References 9 publications

Relationship between brain R2 and liver and serum Iron concentrations in elderly men

Relationship between brain R2 and liver and serum Iron concentrations in elderly men

Wilson's disease and other neurological copper disorders

Retinal Neurodegeneration in Wilson’s Disease Revealed by Spectral Domain Optical Coherence Tomography

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Relationship between brain R₂ and liver and serum Iron concentrations in elderly men

Relationship between brain R₂ and liver and serum Iron concentrations in elderly men