Cognitive profile and structural findings in Wilson′s disease: A neuropsychological and MRI-based study

Hegde, Shantala; Sinha, Sanjib; Rao, Shobini L.; Taly, Arun B.; Vasudev, M.K.

doi:10.4103/0028-3886.72172

Cited by 41 publications

(51 citation statements)

References 31 publications

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“…In addition, NPT scores of neurologically symptomatic WD patients are significantly lower than those of asymptomatic WD patients (Seniow et al, 2002). Cognitive impairments in WD are known to occur in multiple domains, including frontal executive function, memory, and visuospatial processing (Frota et al, 2013;Hegde et al, 2010;Seniow et al, 2002;Wenisch et al, 2013). Our patient showed inattention and frontal executive dysfunction in her initial NPTs.…”

Section: Discussionmentioning

confidence: 65%

“…Despite normal brain MRI findings in some patients with neurologically symptomatic WD (Hegde et al, 2010), most patients show various abnormalities in several structures of the brain including cerebral and brainstem atrophy, abnormalities of the WM and the BG, as well as central pontine myelinolysis-like abnormalities (Hegde et al, 2010;Prashanth et al, 2010;Sinha et al, 2006). Despite similarities between WD and subcortical vascular dementia on MRI, especially with those found in Binswanger's disease, there are several key differences (Erkinjuntti, 2002;Gallucci, Limbucci, Catalucci, & Caulo, 2008).…”

Section: Discussionmentioning

confidence: 88%

“…Abnormal MRI findings and the presence of other clinical symptoms are well correlated with increased copper levels. MRI abnormalities and other clinical symptoms are improved with de-coppering therapy (Hegde et al, 2010;Park, Lee, Lee, & Chung, 2010;Sinha et al, 2007).…”

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confidence: 94%

“…Motor dysfunction is a common neurological symptom associated with WD (Del Rosario, Davis, & Chong, 1998;Svetel et al, 2001). Cognitive dysfunction in WD patients has also been reported, especially in the neurologically symptomatic form of WD (Hegde, Sinha, Rao, Taly, & Vasudev, 2010;Seniow et al, 2002). A significant number of symptomatic WD patients (64.8%) report psychiatric symptoms at the time of their initial examination (Akil, Schwartz, Dutchak, Yuzbasiyan-Gurkan, & Brewer, 1991).…”

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confidence: 96%

“…Magnetic resonance imaging (MRI) studies of WD patients reveal bilateral abnormalities of the BG, ventral thalamus, substantia nigra, pontine tegmentum, and cerebellum, as well as atrophy of the cortex and the cerebral white matter (WM) (Hegde et al, 2010;Prashanth, Sinha, Taly, & Vasudev, 2010;Sinha et al, 2007). Atrophy of the cerebral cortex is more closely associated with the presence of severe cognitive deficits compared with BG lesions alone (Seniow et al, 2002).…”

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confidence: 98%

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Wilson’s disease with cognitive impairment and without extrapyramidal signs: improvement of neuropsychological performance and reduction of MRI abnormalities with trientine treatment

Chung

Kim

et al. 2015

Neurocase

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Extrapyramidal signs are neurological dysfunction commonly associated with Wilson's disease (WD). In addition, cognitive dysfunction has been reported in the early stages of WD. In this report, we describe a 49-year-old woman presenting with memory impairments and without Parkinsonian or extrapyramidal signs. She was diagnosed with WD based on the presence of Kayser-Fleischer rings around the irises of her eyes and two ATP7B gene mutations, R778L at exon 8 and A874V at exdyon 11. Serial magnetic resonance imaging analysis and neuropsychological tests showed improvements following treatment with trientine.

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Section: Discussionmentioning

confidence: 65%

Section: Discussionmentioning

confidence: 88%

Section: Please Scroll Down For Articlementioning

confidence: 94%

Section: Please Scroll Down For Articlementioning

confidence: 96%

Section: Please Scroll Down For Articlementioning

confidence: 98%

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Wilson’s disease with cognitive impairment and without extrapyramidal signs: improvement of neuropsychological performance and reduction of MRI abnormalities with trientine treatment

Chung

Kim

et al. 2015

Neurocase

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Brain MRI in the Decision for Liver Transplantation in Pediatric Neurological Wilson's Disease

Pinto

Malaquias

Miranda

et al. 2022

Movement Disord Clin Pract

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Background Neurological Wilson's disease (WD) presentation in the pediatric population is rare, and liver transplantation (LT) in these patients remains controversial. The aim of the present study was to assess the role of brain magnetic resonance imaging (MRI) in predicting reversion of brain lesions and neurological outcomes in pediatric WD patients after LT. Methods Patients with confirmed WD (Leipzig score ≥4), disease onset in pediatric age (<18 years), neurological involvement, and submitted to LT were selected. Clinical records and pre‐ and post‐LT brain MRI were evaluated. Results Six patients met the pre‐defined inclusion criteria, one of whom died shortly after LT and was excluded. The indication for LT was end‐stage liver disease in two patients and neurological worsening despite optimized treatment in three patients. After LT, the neurological picture progressively improved in all patients. Pre‐LT brain MRI showed T1‐weighted hyperintensities in four patients, which quickly resolved afterward. T2‐weighted hyperintensities were observed in four patients before LT, completely resolving in one patient, stabilizing in two, and improving in one after LT. A direct correlation could not be found between clinical and neuroradiological improvement. Progressive clinical improvement was observed even in patients with irreversible brain MRI changes. Conversely, some patients with normal MRI had only slight neurological improvement. Conclusions The pattern of T2‐weighted hyperintensities after LT was unpredictable and did not correlate with neurological outcomes, suggesting that these changes may not entail irreversible clinical damage. Therefore, brain MRI does not seem to have prognostic value for assessing clinical response to LT.

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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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Cognitive profile and structural findings in Wilson′s disease: A neuropsychological and MRI-based study

Abstract: This study provides insight into the complex cognitive and brain changes observed on MRI in WD. Use of advanced MRI techniques in a larger cohort may improve understanding regarding functional and structural brain changes observed in similar disorders.

Cited by 41 publications

References 31 publications

Wilson’s disease with cognitive impairment and without extrapyramidal signs: improvement of neuropsychological performance and reduction of MRI abnormalities with trientine treatment

Wilson’s disease with cognitive impairment and without extrapyramidal signs: improvement of neuropsychological performance and reduction of MRI abnormalities with trientine treatment

Brain MRI in the Decision for Liver Transplantation in Pediatric Neurological Wilson's Disease

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

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