Which factors are associated with global cognitive impairment in Wilson's disease?

Abstract

BackgroundPatients 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.ObjectiveTo assess which factors are associated with worse performance on a global cognitive test in patients with WD.MethodsTwenty 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.ResultsNine 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).ConclusionGlobal 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.

A study of MRI changes in Wilson disease and its correlation with clinical features and outcome

“…In a study on 20 WD patients, the global cognitive impairment correlated with atrophy and high intensity signal changes [8]. In another study on 6 patients, tremor correlated with globus pallidus, caudate and substantia nigra involvement, and UPDRS score correlated with basal ganglia lesion [9].…”

The Patient-Reported Experience of Living with Wilson Disease

“…Additionally, it is worth exploring if aspects like executive functioning may be better evaluated by a different reporter (e.g., a clinician) or other type of assessment given it may be difficult for patients to self-evaluate and report certain impacts related to executive functioning (e.g., difficulty remembering things). Past studies have mainly relied on cognitive tests to help evaluate executive functioning and other cognitive abnormalities associated with Wilson disease, sometimes with conflicting results [24,25].…”

Cognitive Syndromes Associated With Movement Disorders

“…The cognitive changes in Wilson disease are most pronounced in those with greater brain MRI changes, commonly featuring T2 hyperintensities in the lenticular nuclei, ventrolateral thalamus, and hypothalamus. 85 Dentatorubral-pallidoluysian Atrophy Dentatorubral-pallidoluysian atrophy (DRPLA) is an autosomal dominant condition caused by a CAG repeat expansion in the ATN1 gene; its prevalence is higher in Japan than in other countries. 86 Onset is typically around the age of 30 years but ranges from infancy to midadulthood.…”

“…Cognitively, people with Wilson disease can display slowed processing speed and executive dysfunction, with verbal and visual memory less affected. The cognitive changes in Wilson disease are most pronounced in those with greater brain MRI changes, commonly featuring T2 hyperintensities in the lenticular nuclei, ventrolateral thalamus, and hypothalamus 85 …”