title: Niemann-Pick type C disease - the tip of the iceberg? A review of neuropsychiatric presentation, diagnosis and treatment.
abstract: Niemann-Pick type C (NP-C) disease is a rare neurodegenerative lysosomal storage disorder. It is highly heterogeneous, and there is limited awareness of a substantial subgroup that has an attenuated adolescent/adult-onset disease. In these patients psychiatric features, often a psychosis, may dominate the initial impression, although often there is an associated ataxia and cognitive impairment. Typically, patients experience a substantial diagnostic delay. In this review we highlight the importance of early recognition and discuss the pathophysiology, neuropsychiatric presentation and recent changes in the investigation and work-up of these patients, and treatment options.
authors.affiliation: Niemann-Pick UK, Washington, UK.
authors.forename: William R H
authors.initials: WR
authors.lastname: Evans
authors.affiliation: The Mark Holland Metabolic Unit, Salford Royal Foundation NHS Trust, Manchester, UK.
authors.forename: Chris J
authors.initials: CJ
authors.lastname: Hendriksz