Thesis

Neuropsychological correlates of Fabry disease

Fabry disease is an X-linked dominant inborn error of metabolism stemming from a deficiency of the lysosomal enzyme a-galactosidase which manifests as renal, cardiac, and cerebrovascular disease and which affects men and women alike. Preliminary research, anecdotal evidence and case reports suggest there may be a specific cognitive phenotype associated with Fabry disease, largely characterized by deficits in executive function, attention and working memory. This study attempts to explore the cognitive correlates of Fabry Disease by employing a battery of neuropsychological tests in a mixed sex sample of 22 patients previously recruited for a larger parent study through the University of California San Francisco. Indices of symptom severity as well as age of onset and psychological distress were considered as potential factors influencing presentation. Results demonstrated that a total of 7 individuals out of 22 subjects met clinical criteria to be classified as cognitively impaired, with this number expanding to roughly two-thirds of the sample when below expected performances were considered. Women were found to be just as likely as men to exhibit cognitive decrements in performance. The three neuropsychological measures most sensitive to cognitive change in Fabry disease were those tapping naming and verbal fluency, a novel finding in the context of current literature.

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