A neuropsychological comparison of siblings with neurological versus hepatic symptoms of Wilson's Disease

Deborah Arguedas, Jeanette Stewart, Suzanne Hodgkinson, Jennifer Batchelor

Research output: Contribution to journalArticleResearchpeer-review

Abstract

Wilson’s Disease (WD) (also known as hepatolenticular degeneration) is a rare inherited autosomal recessive disorder of abnormal copper metabolism, with an estimated prevalence of approximately 1 in 30,000. The clinical features associated with WD are highly varied. However, subtypes generally reflect neurological, hepatic, and psychiatric symptoms. The present case study reports two brothers with a recent diagnosis of WD. Neurological symptoms and cognitive deficits were exhibited in one brother (BL) in the form of extrapyramidal features, while the other brother (AL) only exhibited hepatic symptoms. Extensive neuropsychological testing was conducted on both siblings to compare cognitive profiles. Results for BL indicated significantly impaired motor functioning and information processing speed, which impacted him significantly at school. Aspects of executive dysfunction were also apparent in addition to reduced visual and verbal memory, working memory, and attention. Results for AL revealed evidence of verbal memory difficulties and aspects of executive dysfunction. Comparison is made of the distinct and common cognitive characteristics of the cases presented in terms of implications for early intervention and management of cognitive difficulties.

LanguageEnglish
Pages154-161
Number of pages8
JournalNeurocase
Volume21
Issue number2
DOIs
Publication statusPublished - 4 Mar 2015

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Hepatolenticular Degeneration
Liver
Neurobehavioral Manifestations
Automatic Data Processing
Short-Term Memory
Psychiatry
Copper
Siblings
Brothers
Verbal Memory

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Arguedas, Deborah ; Stewart, Jeanette ; Hodgkinson, Suzanne ; Batchelor, Jennifer. / A neuropsychological comparison of siblings with neurological versus hepatic symptoms of Wilson's Disease. In: Neurocase. 2015 ; Vol. 21, No. 2. pp. 154-161.
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A neuropsychological comparison of siblings with neurological versus hepatic symptoms of Wilson's Disease. / Arguedas, Deborah; Stewart, Jeanette; Hodgkinson, Suzanne; Batchelor, Jennifer.

In: Neurocase, Vol. 21, No. 2, 04.03.2015, p. 154-161.

Research output: Contribution to journalArticleResearchpeer-review

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