Cognitive impairment and magnetic resonance imaging correlations in Wilson's disease

Frota, Norberto Anízio Ferreira; Barbosa, E. R.; Porto, Catarina S.; Lucato, Leandro Tavares; Ono, Carla Rachel; Buchpiguel, Carlos Alberto; Caramelli, Paulo

doi:10.1111/ane.12037

Cited by 36 publications

(44 citation statements)

References 35 publications

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“…MRI changes correlated with neurologic deficits and clinical improvement with chelation therapy also followed improvement of serial MRIs. Structural changes also correlate with cognitive decline in these patients who typically exhibit frontal lobe dysfunction 51. Other imaging modalities are also used in evaluation of WD patients.…”

Section: Diagnosis Of Wdmentioning

confidence: 99%

Update on the clinical management of Wilson's disease

Hedera

2017

TACG

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Wilson’s disease (WD), albeit relatively rare, is an important genetic metabolic disease because of highly effective therapies that can be lifesaving. It is a great imitator and requires a high index of suspicion for correct and timely diagnosis. Neurologic, psychiatric and hepatologic problems in WD are very nonspecific, and we discuss the most common clinical phenotypes. The diagnosis remains laboratory based, and here we review the most important challenges and pitfalls in laboratory evaluation of WD, including the emerging role of genetic testing in WD diagnosis. WD is a monogenic disorder but has very high allelic heterogeneity with >500 disease-causing mutations identified, and new insights into phenotype–genotype correlations are also reviewed. The gold standard of therapy is chelation of excessive copper, but many unmet needs exist because of possible clinical deterioration in treated patients and potential adverse effects associated with currently available chelating medications. We also review the most promising novel therapeutic approaches, including chelators targeting specific cell types, cell transplantation and gene therapy.

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Section: Diagnosis Of Wdmentioning

confidence: 99%

Update on the clinical management of Wilson's disease

Hedera

2017

TACG

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“…Impairments in cognitive functioning are a key feature of neurologically presenting WD. Neurologically symptomatic patients demonstrate impairments of processing speed and EF (verbal fluency, set shifting, and inhibition), with verbal and visual memory functioning less significantly affected . In contrast, deficits in these domains of function are rarely found in neurologically asymptomatic patients, although mild executive impairment has been described .…”

Section: Movement Disorders With Prominent Cognitive Impairmentmentioning

confidence: 99%

Cognitive impairment in “Other” movement disorders: Hidden defects and valuable clues

Walterfang

Warrenburg

2014

Movement Disorders

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There is a group of less-common movement disorders in which a clear cognitive phenotype coexists alongside the motor abnormality, and the recognition of this co-occurrence is essential to diagnose these disorders in an early phase. Examples include chorea-acanthocytosis, Niemann-Pick type C, some dominant ataxias, and pantothotenate kinase-associated neurodegeneration. However, also, in some more-common movement disorders, such as primary dystonia and essential tremor, of which the perception is that these have a more or less pure motor phenotype, cognitive deficits are commonly present, although it is not clear whether these deficits-which may be mild in the more "pure" motor disorders-have a functionally relevant impact. In both scenarios, disruption of relevant frontal-subcortical loops appears to be key, with the striatum and cerebellum as important (but not exclusive) nodes.

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“…Conventional magnetic resonance imaging (MRI) is the popular radiological technique for diagnosis and follow-up of WD [9–11]. Areas of symmetric hypointensity on T1-weighted images and symmetric hyperintensity on T2-weighted images were presented in the basal ganglia, thalamus, and brain stem [12].…”

Section: Introductionmentioning

confidence: 99%

Study on Lesion Assessment of Cerebello-Thalamo-Cortical Network in Wilson’s Disease with Diffusion Tensor Imaging

Wang

Wu²,

et al. 2017

Neural Plasticity

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Wilson's disease (WD) is a genetic disorder of copper metabolism with pathological copper accumulation in the brain and any other tissues. This article aimed to assess lesions in cerebello-thalamo-cortical network with an advanced technique of diffusion tensor imaging (DTI) in WD. 35 WD patients and 30 age- and sex-matched healthy volunteers were recruited to accept diffusion-weighted images with 15 gradient vectors and conventional magnetic resonance imaging (MRI). The DTI parameters, including fractional anisotropy (FA) and mean diffusion (MD), were calculated by diffusion kurtosis estimator software. After registration, patient groups with FA mappings and MD mappings and normal groups were compared with 3dttest and receiver-operating characteristic (ROC) curve analysis, corrected with FDR simulations (p = 0.001, α = 0.05, cluster size = 326). We found that the degree of FA increased in the bilateral head of the caudate nucleus (HCN), lenticular nucleus (LN), ventral thalamus, substantia nigra (SN), red nucleus (RN), right dentate nucleus (DN), and decreased in the mediodorsal thalamus and extensive white matter. The value of MD increased in HCN, LN, SN, RN, and extensive white matter. The technique of DTI provides higher sensitivity and specificity than conventional MRI to detect Wilson's disease. Besides, lesions in the basal ganglia, thalamus, and cerebellum might disconnect the basal ganglia-thalamo-cortical circuits or dentato-rubro-thalamic (DRT) track and disrupt cerebello-thalamo-cortical network finally, which may cause clinical extrapyramidal symptoms.

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Cognitive impairment and magnetic resonance imaging correlations in Wilson's disease

Abstract: Patients with WD presented cognitive impairment, especially in executive functions, with good correlation between cognitive abnormalities and MRI changes.

Cited by 36 publications

References 35 publications

Update on the clinical management of Wilson's disease

Update on the clinical management of Wilson's disease

Cognitive impairment in “Other” movement disorders: Hidden defects and valuable clues

Study on Lesion Assessment of Cerebello-Thalamo-Cortical Network in Wilson’s Disease with Diffusion Tensor Imaging

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Cognitive impairment and magnetic resonance imaging correlations in Wilson's disease

Abstract: Patients with WD presented cognitive impairment, especially in executive functions, with good correlation between cognitive abnormalities and MRI changes.

Cited by 36 publications

References 35 publications

Update on the clinical management of Wilson&#39;s disease

Update on the clinical management of Wilson&#39;s disease

Cognitive impairment in “Other” movement disorders: Hidden defects and valuable clues

Study on Lesion Assessment of Cerebello-Thalamo-Cortical Network in Wilson’s Disease with Diffusion Tensor Imaging

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Product

Resources

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Update on the clinical management of Wilson's disease

Update on the clinical management of Wilson's disease