Psychiatric and neurological symptoms in patients with Niemann-Pick disease type C (NP-C): Findings from the International NPC Registry

Abstract

Objectives: Niemann-Pick disease type C (NP-C) is a rare inherited neurovisceral disease that should be recognised by psychiatrists as a possible underlying cause of psychiatric abnormalities. This study describes NP-C patients who had psychiatric manifestations at enrolment in the international NPC Registry, a unique multicentre, prospective, observational disease registry.

Methods: Treating physicians’ data entries describing psychiatric manifestations in NPC patients were coded and grouped by expert psychiatrists.

Results: Out of 386 NP-C patients included in the registry as of October 2015, psychiatric abnormalities were reported to be present in 34% (94/280) of those with available data. Forty-four patients were confirmed to have identifiable psychiatric manifestations, with text describing these psychiatric manifestations. In these 44 patients, the median (range) age at onset of psychiatric manifestations was 17.9 years (2.5–67.9; n = 15), while the median (range) age at NP-C diagnosis was 23.7 years (0.2–69.8; n = 34). Almost all patients (43/44; 98%) had an occurrence of ≥1 neurological manifestation at enrolment.

Conclusions: These data show that substantial delays in diagnosis of NP-C are long among patients with psychiatric symptoms and, moreover, patients presenting with psychiatric features and at least one of cognitive impairment, neurological manifestations, and/or visceral symptoms should be screened for NP-C.

Keywords:

• Psychosis
• schizophrenia
• genetics
• Niemann-Pick disease type C
• registry

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Corrigendum

Acknowledgements

The authors thank the following principal investigators who enrolled patients in the international NPC Registry: Almenar C, Ardissone A, Arellano M, Bandeira A, Battelino T, Baumgartner C, Bembi B, Bernard G, Bodzioch M, Bostantzopoulou S, Böttcher T, Boutoleau-Bretonnière C, Braga Neto P, Brassier A, Bruni A, Campbell E, Catassi B, Chan A, Cox T, Cuisset J-M, Deramecourt V, Di Rocco M, Dionisi Vici C, Doss S, Duning T, Faghfoury H, Federico A, Filla A, Fiumara A, Fonseca MJ, García Silva T, Gautschi M, Gissen P, Giugliani R, Heron B, Hertzberg C, Hlavatá A, Hughes D, Hussain N, Jones S, Jovanovic A, Just J, Kaphan E, Katsalouli M, Kibaek M, Klünemann H-H, Kolníková M, Korenke G-C, Korinthenberg R, Lachmann R, Likopoulou E, Lopez Laso E, Luecke T, Madruga M, Malinová V, Maranda B, Marg W, Marquardt T, Marques C, Martins AM, Martins E, Mengel E, Miquel M, Nadjar Y, Nagarajan L, Nevšímalová S, Nicolai J, Ntinopoulos A, Paucar M, Pérez J, Pineda M, Plöckinger U, Puschmann A, Raiman J, Rask O, Rataj J, Ribeiro E, Rijntjes M, Roche S, Rockman-Greenberg C, Rohrbach M, Rokicki D, Santos ML, Santra S, Schiekofer S, Schwahn B, Schwingenschuh P, Seifert E, Sevin C, Sharma R, Silska S, Skorpen J, Solé G, Stockler S, Strisciuglio P, Tarnev I, Temudo T, Tranchant C, Tsiakas K, Valayannopoulos V, van der Hout H, Van Der Linden V, van Spronsen FJ, Vellodi A, Vilchez JJ, Visser G, Walterfang M, Widner H, Wijburg F, Zur-Wyrozumska K. Medical writing assistance was provided by Matthew Reilly PhD at InTouch Medical Ltd, paid for by Actelion Pharmaceuticals Ltd.

Statement of interest

OB has received research funding, consultancy fees and travel expenses from Actelion Pharmaceuticals Ltd. EM has received consulting fees, honoraria and research grants from Actelion Pharmaceuticals Ltd and Orphazyme. MP has received consulting fees, honoraria and research grants from Actelion Pharmaceuticals Ltd and Biomarin. MTV has received consulting fees, presentation honoraria and/or travel expenses from Actelion Pharmaceuticals Ltd, Shire HGT, Genzyme and Vtesse. CSG and LW have received consultancy fees from Actelion Pharmaceuticals Ltd. MW is an independent statistical consultant providing services to Veramed Ltd. (UK) under contract with Actelion Pharmaceuticals Ltd. BS is a full-time employee of Actelion Pharmaceuticals Ltd. MCP has received research grants from the National Institutes of Health (NS 65768-01), the National MS Society, and Actelion Pharmaceuticals Ltd, and has also received honoraria and consulting fees from Actelion Pharmaceuticals Ltd, Alexion, Amicus, Novartis, Orphazyme, Shire HGT, Stem Cells Inc, Vtesse, and Up-To-Date.

Additional information

Funding

The NPC Registry is sponsored by Actelion Pharmaceuticals Ltd.