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Orphanet Journal of Rare Diseases
Published in: Orphanet Journal of Rare Diseases 1/2017

Open Access 01-12-2017 | Research

Cognitive impairment profile in adult patients with Niemann pick type C disease

Authors: Camille Heitz, Stéphane Epelbaum, Yann Nadjar

Published in: Orphanet Journal of Rare Diseases | Issue 1/2017

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Abstract

Background

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. 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.

Methods

We 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.

Results

The 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).

Conclusions

This 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.
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Metadata
Title
Cognitive impairment profile in adult patients with Niemann pick type C disease
Authors
Camille Heitz
Stéphane Epelbaum
Yann Nadjar
Publication date
01-12-2017
Publisher
BioMed Central
Published in
Orphanet Journal of Rare Diseases / Issue 1/2017
Electronic ISSN: 1750-1172
DOI
https://doi.org/10.1186/s13023-017-0714-1

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