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The Neuropsychiatry and Neuropsychology Of Lipoid Proteinosis

Received October 8, 2005; revised January 12, 2007; accepted January 18, 2007. Drs. Thornton and Stein are affiliated with the Departments of Psychiatry, University of Stellenbosch and University of Cape Town, South Africa. Dr. Nel is affiliated with the Centre for Statistical Consultation, University of Stellenbosch, South Africa. Dr.Thornton is affiliated with the School of Public Health, University of California, Berkeley, California. Dr. van Honk is affiliated with the Helm Holtz Institute, Utrecht University, The Netherlands. Dr. Baker is affiliated with the Division of Neurosciences, University of Liverpool, United Kingdom. Address correspondence to Dr. Thornton, Department of Psychiatry, University of Cape Town, Private Bag X1, Observatory 7925, Cape Town, South Africa; helena.thornton{at}uct.ac.za (e-mail).

Lipoid proteinosis is a rare hereditary disease which often results in bilateral calcifications in the medial temporal region. Thirty-four adults living with lipoid proteinosis (>10% of the world population) were extensively assessed with standardized neuropsychiatric and neuropsychological measures. Of these, 27 patients representing a homogenous group living in the Northern Cape were matched with 47 controls. Subjects with lipoid proteinosis had a high incidence of neuropsychiatric disorders and performed poorly on facial recognition of positive and negative emotions and on many neuropsychological measures. These findings are consistent with involvement of the medial temporal areas in cognitive and emotive processing.

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