The Neuropsychiatry of Niemann-Pick Type C Disease in Adulthood

Abstract

Psychotic symptoms occur in a variety of medical and neurological conditions. The authors describe three young men with a variant form of Niemann-Pick type C disease, a neurodegenerative disorder related to abnormal intracellular cholesterol metabolism, who presented with psychosis in early adulthood. Two patients were treated for schizophrenia for many years prior to a diagnosis of Niemann-Pick type C. The cases presented in this article illustrate the role of changes in both white and gray matter structures in psychosis, and, like the assessments of other neurodevelopmental disorders that predispose toward psychotic presentations, shed light on the underlying pathophysiology of major mental disorders.

Subcortical Volumetric Reductions in Adult Niemann-Pick Disease Type C: A Cross-Sectional Study

“…1 Adults demonstrate a range of central nervous system symptoms, including ataxia, dystonia, vertical supranuclear ophthalmoplegia, cognitive impairment, and psychotic illness. 2,3 Because of the rarity of adult patients, few studies have examined brain changes in the disease at a group level and their relationship with clinical variables. 4,5 We previously used VBM to demonstrate that gray matter changes in NPC were most significant in basal and subcortical regions, with reductions in volume in the hippocampus, thalamus, cerebellum, and striatum.…”

Size and Shape of the Corpus Callosum in Adult Niemann-Pick Type C Reflects State and Trait Illness Variables

“…7 Reduction of callosal size has been reported in series of pediatric 11,12 and adult patients. 9,[13][14][15] DTI studies in NPC show marked reductions in fractional anisotropy in the callosum in particular, among other long association tracts, in both children 11 and adults. 16 However, given that the callosum is topographically organized with different callosal regions connecting different contralateral regions of cerebral cortex, 17 it is unclear whether these changes occur globally across the callosum or are restricted to specific regions carrying homotopic fibers from discrete cortical regions.…”

Neurological Dysfunction in Early Maturity of a Model for Niemann–Pick C1 Carrier Status

“…Psychiatric illness is a common clinical presentation often seen in patients with NP-C1 who are > 6 years of age [1,2,37,38]. While our phenotypic assessment focused on motor performance, an anxiety-like phenotype was apparent in Npc1 +/-mice.…”