Objective: To assess cognitive profile of Wilson’s Disease (WD) patients in a single tertiary Movement Disorders center in Fortaleza, Ceará, Brazil.

Background: WD is an autosomal recessive disorder of copper metabolism with a wide spectrum of systemic symptoms mainly related to hepatic, neurological and neuropsychiatric functions. Cognitive impairment occurs in approximately 25% of cases but depending on the test used and whether the patients present with more hepatic or neurological symptoms, this can reach up to 40%.¹ Among neuropsychiatric manifestations, depression and apathy are frequent complaints. Also a picture of subcortical dementia is described, essentially affecting executive function. A previous Brazilian study, found a 5% prevalence of dementia.² The lower educational level that exists in our underserved population may imply a marked dysfunction in several cognitive domains,³ far beyond what is usually expected.

Method: Cross-sectional descriptive study. Unified Wilson’s Disease Rating Scale (UWDRS) was used to assess neurological symptoms. MMSE, MOCA, clock drawing, verbal fluency and Frontal Assessment Battery were performed for cognitive assessment.

Results: Three male patients, aged between 30 and 37 years, were evaluated. They ranged from 6 to 9 years of schooling. Two of them had cognitive complaints. UWDRS score ranged from 38 to 61 points. All patients scored below the expected in cognitive batteries. Executive and visuospatial function were the most compromised domains, associated with memory and language impairment. Semantic verbal fluency was the most affected. MOCA score ranged from 8-19 points. MMSE score ranged from 18-22 points. FAB score ranged from 7-12 points. Verbal fluency for animals was 1-14 and market fluency was 10-14. As previously reported by Frota et. al., patients with lower educational level showed greater impairment on cognitive tests.³ Our small casuistic revealed that the patient who only spent 6 years in school had the worst scores compared to the other two patients.

Conclusion: Patients suffering from WD show a significantly poorer performance on global cognitive tests such as the MMSE and MOCA test, but lower educational level is related to a greater risk for worst cognitive scores outcome and dementia. Neuropsychological assessment is a valuable tool to evaluate the presence and the consequences of these cognitive impairments in WD patients and should be routinely performed.

References: 1. Frota NAF, Caramelli P, Barbosa ER. Cognitive impairment in Wilson’s disease. Dement. Neuropsychol. 2009;3(1):16-21. 2. Machado A, Chien HF, Deguti MM, et al. Neurological manifestations in Wilsons disease: Report of 119 cases. Mov Disord. 2006;21:2192–2196. 3. Frota, NAF, Barbosa, ER, Porto, CS, [et. al.] Which factors are associated with global cognitive impairment in Wilson’s disease? Dement Neuropsychol 2016 December;10(4):320-326.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/low-educational-level-and-wilsons-disease-a-direct-path-to-cognitive-decline/