FP04-MO-05 Neurological signs of Wilson' disease assessed by unified Wilson's disease rating scale (UWDRS)

ABSTRACT Background: Patients with Wilson's disease (WD) present cognitive impairment, especially in executive functions. Which other factors might be associated with global cognitive decline in these patients remains unclear. Objective: To assess which factors are associated with worse performance on a global cognitive test in patients with WD. Methods: Twenty patients with WD underwent cognitive assessment with the following tests: the Mini-Mental State Examination (MMSE), Dementia Rating Scale (DRS), verbal fluency test, brief cognitive battery, clock drawing test, Frontal Assessment Battery, Stroop test, Wisconsin card sorting test, Hopper test, cubes (WAIS) and the Pfeffer questionnaire. MRI changes were quantified. Patients with poor performance on the DRS were compared to patients with normal performance. Results: Nine patients had a poor performance on the DRS. This group had lower educational level (9.11±3.58 × 12.82±3.06) and a greater number of changes on MRI (9.44±2.74 × 6.27±2.45). The presence of hyperintensity in the globus pallidus on MRI was more frequent in this group (66.6% vs 9.0%), with OR=5.38 (95% CI 0.85-33.86). Conclusion: Global cognitive impairment was prevalent in this sample of patients with WD and was associated with low educational level, number of changes on MRI and MRI hyperintensity in the globus pallidus.

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Wilson Hastalığı Olan Gebede Sezaryen Ameliyatında Spinal Anestezi Uygulaması

Journal of Anesthesiology and Reanimation Specialists’ Society ◽

10.5222/jarss.2021.10337 ◽

2021 ◽

Author(s):

Harun Özmen ◽

Bahar Aydınlı

Keyword(s):

Case Report ◽

Pregnant Woman ◽

Chronic Disease ◽

Biliary Excretion ◽

Wilson Disease ◽

Autosomal Recessive ◽

Wilson’S Disease ◽

Chelation Therapy ◽

Wilson's Disease

Wilson's disease is an autosomal recessive inherited chronic disease that occurs as a result of the deposition of copper in organs and tissues with impaired biliary excretion. With this case report, we aimed to share our experience in cesarean anesthesia in a pregnant woman with Wilson disease who had irregular medical follow-up and underwent chelation therapy.

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The degree of depression in Hamilton rating scale is correlated with the density of presynaptic serotonin transporters in 23 patients with Wilson's disease

Journal of Neurology ◽

10.1007/s00415-003-1039-7 ◽

2003 ◽

Vol 250 (5) ◽

pp. 576-580 ◽

Cited By ~ 37

Author(s):

B. Eggers ◽

W. Hermann ◽

H. Barthel ◽

O. Sabri ◽

A. Wagner ◽

...

Keyword(s):

Wilson’S Disease ◽

Rating Scale ◽

Wilson's Disease ◽

Serotonin Transporters ◽

Hamilton Rating Scale

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Clinical significance of self-descriptive apathy assessment in patients with neurological form of Wilson’s disease

Neurological Sciences ◽

10.1007/s10072-021-05366-0 ◽

2021 ◽

Author(s):

Marcin Leśniak ◽

Magdalena Roessler-Górecka ◽

Anna Członkowska ◽

Joanna Seniów

Keyword(s):

Wilson’S Disease ◽

Rating Scale ◽

Neuropsychiatric Symptoms ◽

Executive Dysfunction ◽

Wilson's Disease ◽

Clinical Syndrome ◽

Assessment Tools ◽

Self Awareness ◽

Clinical Scales ◽

Proxy Version

Abstract Background and aim Apathy is one of the neuropsychiatric symptoms of Wilson’s disease (WD) which typically affects the brain’s fronto-basal circuits. Lack of agreed diagnostic criteria and common use of self-description assessment tools lead to underestimation of this clinical phenomenon. The aim of this study was to investigate whether subjective and informant-based clinical features of apathy in patients with WD enable clinicians to make a valid diagnosis. Methods Multiple aspects of goal-oriented behavior were assessed in 30 patients with the neurological form of WD and 30 age-matched healthy participants using two questionnaires, the Lille Apathy Rating Scale (LARS) and the Dysexecutive Questionnaire (DEX). Both included a self-descriptive and a caregiver/proxy version. Cognitive functioning was estimated with the use of Addenbrooke’s Cognitive Examination-Revised. Results Patients obtained significantly worse scores on all clinical scales when more objective measures were considered. Features of apathy and executive dysfunction were revealed in patients’ caregiver versions of LARS and DEX, which may indicate poor self-awareness of patients with WD. Roughly 30% of participants were likely to present with clinically meaningful symptoms, independent of cognitive dysfunction. Conclusions Methods relying on self-description appear inferior to informant-based scales when diagnosing apathy. More objective criteria and measurement tools are needed to better understand this clinical syndrome.

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Cognitive impairment in Wilson's disease

Dementia & Neuropsychologia ◽

10.1590/s1980-57642009dn30100004 ◽

2009 ◽

Vol 3 (1) ◽

pp. 16-21 ◽

Cited By ~ 15

Author(s):

Norberto Anizio Ferreira Frota ◽

Paulo Caramelli ◽

Egberto Reis Barbosa

Keyword(s):

Central Nervous System ◽

Nervous System ◽

Wilson’S Disease ◽

Systemic Disease ◽

Wilson's Disease ◽

Hepatolenticular Degeneration ◽

Cognitive Changes ◽

Neurological Signs ◽

Memory Change ◽

The Central Nervous System

Abstract Wilson's disease (WD) or hepatolenticular degeneration is a rare, genetic and systemic disease, caused by a deficit in the metabolism of copper, leading to its accumulation in different organs, mainly the liver, followed by the central nervous system, especially the basal ganglia. When symptoms begin between the second and third decades of life, approximately 50% of the patients show neurological symptoms. Although dystonia and dysarthria are the most common neurological signs, cognitive changes have been reported since the first cases were described in 1912. Memory change is one of the most common impairments, but other cognitive changes have been reported, including dementia in untreated cases. In this article we review the cognitive changes in WD patients and the occurrence of dementia.

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Recurrent Hemolytic Anemia as an Inaugural Manifestation of Wilson Disease in Children: A Case Report

The Open Pediatric Medicine Journal ◽

10.2174/1874309901909010005 ◽

2019 ◽

Vol 9 (1) ◽

pp. 5-6

Author(s):

Ouidad Louachama ◽

Aicha Bourrahouat ◽

Ibtissam Khattou ◽

Imane Ait Sab ◽

Mohamed Sbihi

Keyword(s):

Differential Diagnosis ◽

Case Report ◽

Liver Failure ◽

Hemolytic Anemia ◽

Wilson Disease ◽

Wilson’S Disease ◽

Copper Metabolism ◽

Wilson's Disease ◽

Brain Disorders

Wilson disease (WD) is a disorder of copper metabolism. Liver and brain disorders are the main presentations, hemolytic anemia in WD is a rare inaugural symptom. We report a case of a child who developed recurrent hemolytic anemia associated with liver failure in the second hemolysis episode as the first manifestation of WD. Wilson's disease is not exceptional in children with hemolytic anemia, but another differential diagnosis must be excluded.

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