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CNS Drugs
Published in: CNS Drugs 2/2019

01-02-2019 | Schizophrenia | Review Article

Psychiatric and Cognitive Symptoms Associated with Niemann-Pick Type C Disease: Neurobiology and Management

Authors: Thomas Rego, Sarah Farrand, Anita M. Y. Goh, Dhamidhu Eratne, Wendy Kelso, Simone Mangelsdorf, Dennis Velakoulis, Mark Walterfang

Published in: CNS Drugs | Issue 2/2019

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Abstract

Niemann-Pick disease type C (NPC) is a lysosomal storage disorder that presents with a spectrum of clinical manifestations from infancy and childhood or in early or mid-adulthood. Progressive neurological symptoms including ataxia, dystonia and vertical gaze palsy are a hallmark of the disease, and psychiatric symptoms such as psychosis and mood disorders are common. These latter symptoms often present early in the course of NPC and thus these patients are often diagnosed with a major psychotic or affective disorder before neurological and cognitive signs present and the diagnosis is revised. The commonalities and characteristics of psychotic symptoms in both NPC and schizophrenia may share neuronal pathways and mechanisms and provide potential targets for research in both disorders. The neurobiology of NPC and its relationship to the pattern of neuropsychiatric and cognitive symptoms is described in this review. A number of neurobiological models are proposed as mechanisms by which NPC causes psychiatric and cognitive symptoms, informed from models proposed in schizophrenia and other metabolic disorders. There are a number of symptomatic and illness-modifying treatments for NPC currently available. The current evidence is discussed; focussing on two medications which have shown promise, miglustat and hydroxypropyl-β-cyclodextrin.
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Metadata
Title
Psychiatric and Cognitive Symptoms Associated with Niemann-Pick Type C Disease: Neurobiology and Management
Authors
Thomas Rego
Sarah Farrand
Anita M. Y. Goh
Dhamidhu Eratne
Wendy Kelso
Simone Mangelsdorf
Dennis Velakoulis
Mark Walterfang
Publication date
01-02-2019
Publisher
Springer International Publishing
Keyword
Schizophrenia
Published in
CNS Drugs / Issue 2/2019
Print ISSN: 1172-7047
Electronic ISSN: 1179-1934
DOI
https://doi.org/10.1007/s40263-018-0599-0

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