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Cogn Neuropsychol. 2018 May - Jun;35(3-4):209-222. doi: 10.1080/02643294.2017.1340264. Epub 2017 Jun 30.

Cognition and anatomy of adult Niemann-Pick disease type C: Insights for the Alzheimer field.

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a Clinique Interdisciplinaire de Mémoire, Département des Sciences Neurologiques , CHU de Québec , Quebec City , Quebec , Canada.
b Faculté de Médecine , Université Laval , Quebec City , Quebec , Canada.


Niemann-Pick disease type C (NPC) is a rare lysosomal storage disorder causing an intracellular lipid trafficking defect and varying damage to the spleen, liver, and central nervous system. The adult form, representing approximately 20% of the cases, is associated with progressive cognitive decline. Intriguingly, brains of adult NPC patients exhibit neurofibrillary tangles, a characteristic hallmark of Alzheimer's disease (AD). However, the cognitive, psychiatric, and neuropathological features of adult NPC and their relation to AD have yet to be explored. We systematically reviewed the literature on adult NPC with a particular focus on cognitive and neuroanatomical abnormalities. The careful study of cognition in adult NPC allows drawing critical insights in our understanding of the pathophysiology of AD as well as normal cognition.


Alzheimer’s disease; Niemann–Pick type C; corticostriatal circuits; executive functions; neurofibrillary tangles; neuropsychology

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