Abstract
BackgroundCognitive impairment is one of the core symptoms of Niemann Pick type C (NPC) disease, but few data concerning the neuropsychological profile of NPC patients are available. The aim of our study was to characterize cognitive impairments in NPC disease and to assess the evolution of these symptoms and the impact of miglustat on cognitive follow-up.MethodsWe conducted a retrospective study of 21 adult patients diagnosed with NPC disease. Neuropsychological data (global cognitive efficiency, language, attention, executive functions, praxis, and visuoconstructive functions tests) were retrieved to describe the cognitive profile of patients. Cognitive impairment scores over time were assessed under treatment by miglustat.ResultsThe majority of patients (90%) were impaired in one or more cognitive function. Executive functions and attention were the most impaired cognitive functions. Conversely, storage in the episodic memory was preserved in 61.5% of cases. Mean neuropsychological scores were stable during the period under miglustat (mean of 3.8 years).ConclusionsThis study is one of the first to assess the cognitive profile of adult NPC patients. This profile is not specific to attention and executive dysfunctions; however, the preservation of storage in the episodic memory is promising for cognitive remediation. Further studies are needed to confirm the role of miglustat on cognition, but in this study, patients were stable under this treatment.
Highlights
Cognitive impairment is one of the core symptoms of Niemann Pick type C (NPC) disease, but few data concerning the neuropsychological profile of NPC patients are available
It is an autosomal recessive disease caused by mutations in either of the two genes encoding the lysosome-associated lipid trafficking proteins, NPC1 and NPC2, with an occurrence estimated as 1/120,000 individuals in Western Europe [1]
Only one study on a small (10 patients) cross-sectional cohort has assessed cognitive impairments observed in adult NPC patients [4]
Summary
Cognitive impairment is one of the core symptoms of Niemann Pick type C (NPC) disease, but few data concerning the neuropsychological profile of NPC patients are available. Niemann Pick type C (NPC) disease is a lipid storage disorder characterized by visceral (hepatosplenomegaly) and neurological symptoms (ataxia, dystonia, cognitive disorder, psychiatric disorder, and vertical supranuclear gaze palsy). It is an autosomal recessive disease caused by mutations in either of the two genes encoding the lysosome-associated lipid trafficking proteins, NPC1 and NPC2, with an occurrence estimated as 1/120,000 individuals in Western Europe [1].
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