Clinical manifestations of the anti-IgLON5 disease
Por:
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
Publicada:
2 may 2017
Resumen:
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.
Filiaciones:
Gaig, C:
Inst Invest Biomed August Pi & Sunyer IDIBAPS, Neuroimmunol Program, Barcelona, Spain
Hosp Clin Barcelona, Dept Neurol, Barcelona, Spain
Hosp Clin Barcelona, Multidisciplinary Sleep Disorders Unit, Barcelona, Spain
Graus, F:
Inst Invest Biomed August Pi & Sunyer IDIBAPS, Neuroimmunol Program, Barcelona, Spain
Hosp Clin Barcelona, Dept Neurol, Barcelona, Spain
Compta, Y:
Hosp Clin Barcelona, Dept Neurol, Barcelona, Spain
Hosp Clin Barcelona, Parkinsons Dis & Movement Disorders Unit, Barcelona, Spain
Hogl, B:
Med Univ Innsbruck, Dept Neurol, Innsbruck, Austria
Bataller, L:
Hosp Univ & Politecn La Fe, Dept Neurol, Valencia, Spain
Ctr Invest Biomed & Red Enfermedades Raras CIBERE, Valencia, Spain
Giordana, C:
CHU Nice, Dept Movement Disorders & Neurol, Nice, France
Heidbreder, A:
Univ Hosp Muenster, Div Sleep Med & Neuromuscular Disorders, Dept Neurol, Munster, Germany
Kotschet, K:
St Vincents Hosp, Clin Neurosci, Melbourne, Vic, Australia
Lewerenz, J:
Univ Ulm, Dept Neurol, Ulm, Germany
Macher, S:
Med Univ Vienna, Dept Neurol, Vienna, Austria
Marti, MJ:
Hosp Clin Barcelona, Dept Neurol, Barcelona, Spain
Hosp Clin Barcelona, Parkinsons Dis & Movement Disorders Unit, Barcelona, Spain
Montojo, T:
Ctr Hosp Luxembourg, Dept Neurol, Luxembourg, Luxembourg
Perez-Perez, J:
Hosp Santa Creu & Sant Pau, Dept Neurol, Barcelona, Spain
Puertas, I:
Hosp La Paz, Dept Neurol, Madrid, Spain
Seitz, C:
Johannes Gutenberg Univ Mainz, Univ Med Ctr, Dept Neurol, Mainz, Germany
Simabukuro, M:
Univ Sao Paulo, Hosp Clin, Div Neurol, Sao Paulo, Brazil
Tellez, N:
Hosp Clin Univ, Dept Neurol, Valladolid, Spain
Wandinger, KP:
Univ Lubeck, Dept Neurol, Lubeck, Germany
Univ Lubeck, Inst Neurogenet, Lubeck, Germany
Univ Hosp Schleswig Holstein, Inst Clin Chem, Lubeck, Germany
Iranzo, A:
Inst Invest Biomed August Pi & Sunyer IDIBAPS, Neuroimmunol Program, Barcelona, Spain
Hosp Clin Barcelona, Dept Neurol, Barcelona, Spain
Hosp Clin Barcelona, Multidisciplinary Sleep Disorders Unit, Barcelona, Spain
Ercilla, G:
Hosp Clin Barcelona, Dept Immunol, Barcelona, Spain
Sabater, L:
Inst Invest Biomed August Pi & Sunyer IDIBAPS, Neuroimmunol Program, Barcelona, Spain
Ctr Invest Biomed & Red Enfermedades Raras CIBERE, Valencia, Spain
Santamaria, J:
Inst Invest Biomed August Pi & Sunyer IDIBAPS, Neuroimmunol Program, Barcelona, Spain
Hosp Clin Barcelona, Dept Neurol, Barcelona, Spain
Hosp Clin Barcelona, Multidisciplinary Sleep Disorders Unit, Barcelona, Spain
Dalmau, J:
Inst Invest Biomed August Pi & Sunyer IDIBAPS, Neuroimmunol Program, Barcelona, Spain
Ctr Invest Biomed & Red Enfermedades Raras CIBERE, Valencia, Spain
Univ Penn, Dept Neurol, Philadelphia, PA 19104 USA
Inst Catalana Rec & Estud Avancas ICREA, Barcelona, Spain
Green Published
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