Clinical manifestations of the anti-IgLON5 disease

Objective: To report the presentation, main syndromes, human leukocyte antigen (HLA) association, and immunoglobulin G (IgG) subclass in the anti-IgLON5 disease: a disorder with parasomnias, sleep apnea, and IgLON5 antibodies. Methods: This was a retrospective clinical analysis of 22 patients. The I...

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Autores: Gaig, C, Graus, F, Compta, Y, Hogl, B, Bataller, L, Bruggemann, N, Giordana, C, Heidbreder, A, Kotschet, K, Lewerenz, J, Macher, S, Marti, MJ, Montojo, T, Perez-Perez, J, Puertas, I, Seitz, C, Simabukuro, M, Tellez, N, Wandinger, KP, Iranzo, A, Ercilla, G, Sabater, L, Santamaria, J, Dalmau, J
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2017
País:España
Institución:Institut d’Investigació Biomèdica Sant Pau (IIB Sant Pau)
Repositorio:r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
OAI Identifier:oai:iibsantpau.fundanetsuite.com:p14249
Acceso en línea:https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=14249
https://europepmc.org/articles/pmc5409845
Access Level:acceso abierto
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spelling Clinical manifestations of the anti-IgLON5 diseaseGaig, CGraus, FCompta, YHogl, BBataller, LBruggemann, NGiordana, CHeidbreder, AKotschet, KLewerenz, JMacher, SMarti, MJMontojo, TPerez-Perez, JPuertas, ISeitz, CSimabukuro, MTellez, NWandinger, KPIranzo, AErcilla, GSabater, LSantamaria, JDalmau, JObjective: To report the presentation, main syndromes, human leukocyte antigen (HLA) association, and immunoglobulin G (IgG) subclass in the anti-IgLON5 disease: a disorder with parasomnias, sleep apnea, and IgLON5 antibodies. Methods: This was a retrospective clinical analysis of 22 patients. The IgG subclass was determined using reported techniques. Results: Patients' median age was 64 years (range 46-83). Symptoms that led to initial consultation included sleep problems (8 patients; 36%), gait abnormalities (8; 36%), bulbar dysfunction (3; 14%), chorea (2; 9%), and cognitive decline (1; 5%). By the time of diagnosis of the disorder, 4 syndromes were identified: (1) a sleep disorder with parasomnia and sleep breathing difficulty in 8 (36%) patients; (2) a bulbar syndrome including dysphagia, sialorrhea, stridor, or acute respiratory insufficiency in 6 (27%); (3) a syndrome resembling progressive supranuclear palsy (PSP-like) in 5 (23%); and (4) cognitive decline with or without chorea in 3 (14%). All patients eventually developed parasomnia, sleep apnea, insomnia, or excessive daytime sleepiness. HLA-DRB1*10:01 and HLA-DQB1*05:01 were positive in 13/15 (87%) patients; the DRB1*10:01 allele was 36 times more prevalent than in the general population. Among 16 patients with paired serum and CSF samples, 14 had IgLON5 antibodies in both, and 2 only in serum (both had a PSP-like syndrome). Twenty of 21 patients had IgG1 and IgG4 antibodies; the latter predominated in 16. Conclusions: Patients with IgLON5 antibodies develop a characteristic sleep disorder preceded or accompanied by bulbar symptoms, gait abnormalities, oculomotor problems, and, less frequently, cognitive decline. IgG4 subclass antibodies predominate over IgG1; we confirm a strong association with the HLA-DRB1*10:01 allele.LIPPINCOTT WILLIAMS & WILKINS2017info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttps://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=14249https://europepmc.org/articles/pmc5409845NEUROLOGYISSN: 00283878ISSNe: 1526632Xreponame:r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pauinstname:Institut d’Investigació Biomèdica Sant Pau (IIB Sant Pau)Inglésinfo:eu-repo/semantics/openAccessoai:iibsantpau.fundanetsuite.com:p142492026-06-14T12:41:47Z
dc.title.none.fl_str_mv Clinical manifestations of the anti-IgLON5 disease
title Clinical manifestations of the anti-IgLON5 disease
spellingShingle Clinical manifestations of the anti-IgLON5 disease
Gaig, C
title_short Clinical manifestations of the anti-IgLON5 disease
title_full Clinical manifestations of the anti-IgLON5 disease
title_fullStr Clinical manifestations of the anti-IgLON5 disease
title_full_unstemmed Clinical manifestations of the anti-IgLON5 disease
title_sort Clinical manifestations of the anti-IgLON5 disease
dc.creator.none.fl_str_mv Gaig, C
Graus, F
Compta, Y
Hogl, B
Bataller, L
Bruggemann, N
Giordana, C
Heidbreder, A
Kotschet, K
Lewerenz, J
Macher, S
Marti, MJ
Montojo, T
Perez-Perez, J
Puertas, I
Seitz, C
Simabukuro, M
Tellez, N
Wandinger, KP
Iranzo, A
Ercilla, G
Sabater, L
Santamaria, J
Dalmau, J
author Gaig, C
author_facet Gaig, C
Graus, F
Compta, Y
Hogl, B
Bataller, L
Bruggemann, N
Giordana, C
Heidbreder, A
Kotschet, K
Lewerenz, J
Macher, S
Marti, MJ
Montojo, T
Perez-Perez, J
Puertas, I
Seitz, C
Simabukuro, M
Tellez, N
Wandinger, KP
Iranzo, A
Ercilla, G
Sabater, L
Santamaria, J
Dalmau, J
author_role author
author2 Graus, F
Compta, Y
Hogl, B
Bataller, L
Bruggemann, N
Giordana, C
Heidbreder, A
Kotschet, K
Lewerenz, J
Macher, S
Marti, MJ
Montojo, T
Perez-Perez, J
Puertas, I
Seitz, C
Simabukuro, M
Tellez, N
Wandinger, KP
Iranzo, A
Ercilla, G
Sabater, L
Santamaria, J
Dalmau, J
author2_role author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
description Objective: To report the presentation, main syndromes, human leukocyte antigen (HLA) association, and immunoglobulin G (IgG) subclass in the anti-IgLON5 disease: a disorder with parasomnias, sleep apnea, and IgLON5 antibodies. Methods: This was a retrospective clinical analysis of 22 patients. The IgG subclass was determined using reported techniques. Results: Patients' median age was 64 years (range 46-83). Symptoms that led to initial consultation included sleep problems (8 patients; 36%), gait abnormalities (8; 36%), bulbar dysfunction (3; 14%), chorea (2; 9%), and cognitive decline (1; 5%). By the time of diagnosis of the disorder, 4 syndromes were identified: (1) a sleep disorder with parasomnia and sleep breathing difficulty in 8 (36%) patients; (2) a bulbar syndrome including dysphagia, sialorrhea, stridor, or acute respiratory insufficiency in 6 (27%); (3) a syndrome resembling progressive supranuclear palsy (PSP-like) in 5 (23%); and (4) cognitive decline with or without chorea in 3 (14%). All patients eventually developed parasomnia, sleep apnea, insomnia, or excessive daytime sleepiness. HLA-DRB1*10:01 and HLA-DQB1*05:01 were positive in 13/15 (87%) patients; the DRB1*10:01 allele was 36 times more prevalent than in the general population. Among 16 patients with paired serum and CSF samples, 14 had IgLON5 antibodies in both, and 2 only in serum (both had a PSP-like syndrome). Twenty of 21 patients had IgG1 and IgG4 antibodies; the latter predominated in 16. Conclusions: Patients with IgLON5 antibodies develop a characteristic sleep disorder preceded or accompanied by bulbar symptoms, gait abnormalities, oculomotor problems, and, less frequently, cognitive decline. IgG4 subclass antibodies predominate over IgG1; we confirm a strong association with the HLA-DRB1*10:01 allele.
publishDate 2017
dc.date.none.fl_str_mv 2017
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=14249
https://europepmc.org/articles/pmc5409845
url https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=14249
https://europepmc.org/articles/pmc5409845
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv LIPPINCOTT WILLIAMS & WILKINS
publisher.none.fl_str_mv LIPPINCOTT WILLIAMS & WILKINS
dc.source.none.fl_str_mv NEUROLOGY
ISSN: 00283878
ISSNe: 1526632X
reponame:r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname:Institut d’Investigació Biomèdica Sant Pau (IIB Sant Pau)
instname_str Institut d’Investigació Biomèdica Sant Pau (IIB Sant Pau)
reponame_str r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
collection r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
repository.name.fl_str_mv
repository.mail.fl_str_mv
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