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Narcolepsy type 1 (NT1) is a chronic sleep disorder of suspected autoimmune aetiology.1 In children, a complex movement disorder, characterised by typical cataplexy and other hypotonic (‘negative’) motor features and also by ‘active’ motor phenomena, was described.2 These motor phenomena recall post-streptococcal autoimmune disorders such as Sydenham’s chorea, tics and paediatric autoimmune neuropsychiatric disorders sssociated with streptococcal infections (PANDAS), and the movements in patients with antibodies to neuronal surface antigens (NSAbs).3 We investigated movement disorders and NSAbs in NT1.
We retrospectively assessed consecutive patients with drug-naïve NT1 seen at the Bologna Sleep Centre within the last year at the time of the study. The patients were diagnosed according to the International Classification of Sleep Disorders (ICSD), third edition. Serum was stored at −80°C. Motor phenomena were studied and scored retrospectively,2 using the video recordings routinely performed on first admission, on the day of blood sampling. Cell-based assays for specific antigens were tested on NT1 and control sera. See online supplemental file 1 for more details.
The Ethical Committee approved the study (Protocol 17009). Consent to participate was collected from patients or from parents.
Continuous variables, not normally distributed, were compared using the Mann-Whitney U test or the Kruskal-Wallis test. Categorical data were analysed with Fisher’s exact test.
Patients and clinical features
There were 58 patients (21 F, 37 M), aged 8–66 years (median 32.5), with 22 under 18 years. The median age at onset (either of excessive daytime sleepiness (EDS) or cataplexy) was 14.5 years (range, 4–62). The time gap between …
Contributors MPG: conception of the study, acquisition and analysis of data, drafting and proofing of manuscript. FP: acquisition and data analysis, manuscript drafting. LJ: acquisition and data analysis. RL: conception of the study and data acquisition. GP: conception of the study, acquisition and analysis of data. AV: design of the study, analysis of data, drafting and proofing of manuscript.
Funding This work was supported by the European Academy of Neurology (Scientific Fellowship to MPG), the Nuffield Department of Clinical Neurosciences, University of Oxford (MPG and AV) and the Department of Biomedical and Neuromotor Sciences (MPG).
Competing interests MPG reports no disclosures; FP reports no disclosures;
LJ reports no disclosures. RL: advisory boards of Biogen, Sanofi Genzyme, Argon Healthcare s.r.l., LT3 s.r.l., PREX s.r.l. and Editree Eventi s.r.l.; lecture fees from Dynamicom Education, SIMG Service, Adnkronos Salute unipersonale s.r.l., DOC Congress s.r.l., SIN foundation, LT3 s.r.l. and First Class s.r.l.; Consultant for Alfasigma and Amicus Therapeutics s.r.l. GP: advisory board for UCB Pharma, Jazz Pharmaceuticals, Bioprojet and Idorsia outside of the submitted work. AV and the University of Oxford hold patents licensed to Athena Diagnostics and Euroimmun AG for MuSK, CASPR2 and LGI1 antibody testing; AV receives a proportion of the royalties.
Patient consent for publication Not required.
Provenance and peer review Not commissioned; externally peer reviewed.