The neuropsychiatry and neuropsychology of Lipoid Proteinosis

[摘要] Lipoid Proteinosis (LiP) is a rare hereditary disease, which often results in bilateral,symmetrical and circumscribed calcifications in the mesial temporal region (especiallythe amygdala). While several case studies have been published on individuals with thisillness, there have been few systematic investigations of the neuropsychiatry andneuropsychology of a series of patients. Thirty-seven LiP patients were extensivelyassessed with standardized neuropsychiatric and neuropsychological measures. Ofthese, 27 patients from the Northern Cape in South Africa were matched (for age,gender, education, language, geographical area) with 53 controls. There was a highincidence of neuropsychiatric disorders in LiP (more than half of the subjects reported ahistory of depression or anxiety and 12% had a diagnosis of schizophrenia). Despite awide variance, LiP subjects performed poorly on facial recognition for emotions and onmost neuropsychological measures including intelligence, recall and executivefunctioning. These findings are consistent with involvement of the mesial temporal areasin mood, anxiety, and psychotic symptoms, and in the cognitive-affective processes.Future work aimed at delineating the associations between the clinical andneuropsychological findings reported here, for example, with brain-imaging techniques,is needed.

[发布机构] Stellenbosch University