Clinical manifestations of the anti-IgLON5 disease

Gaig, Carles; Graus, Francesc; Compta, Yarko; Högl, Birgit; Bataller, Luís; Brüggemann, Norbert; Giordana, Caroline; Heidbreder, Anna; Kotschet, Katya; Lewerenz, Jan; Macher, Stefan; Martí, María Josep; Montojo, Teresa; Pérez‐Pérez, Jesús; Puertas, Inmaculada; Seitz, Caspar; Simabukuro, Mateus Mistieri; Téllez, Nieves; Wandinger, Klaus‐Peter; Iranzo, Álex; Ercilla, Guadalupe; Sabater, Lidia; Santamaría, Joan; Dalmau, Josep

doi:10.1212/wnl.0000000000003887

Cited by 317 publications

(364 citation statements)

References 21 publications

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“…The patient improved to his baseline after immunosuppressive treatment. A temporary improvement was also reported in four other cases, but soon after the patients worsened and three died suddenly . The current case had not only temporary improvement, but also a long‐term maintained response, remaining stable with no new exacerbations.…”

Section: Discussionsupporting

confidence: 74%

“…Anti‐IgLON5 disease has recently been described as a progressive antibody‐associated encephalopathy, characterized by prominent sleep and movement abnormalities . Postmortem findings, consistent with a neuronal tauopathy involving the hypothalamus and tegmentum of the brainstem, have placed anti‐IgLON5 disease at the convergence of neurodegenerative and autoimmune disorders . Parasomnias, obstructive sleep apnea, and stridor were first described as the hallmark of anti‐IgLON5 disease, but other symptoms have not been described nor reported in detail yet …”

Section: Discussionmentioning

confidence: 99%

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Anti‐IgLON5 Disease Responsive to Immunotherapy: A Case Report with an Abnormal MRI

Moreno‐Estébanez

García-Ormaechea

Tijero

et al. 2018

Movement Disord Clin Pract

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Section: Discussionsupporting

confidence: 74%

Section: Discussionmentioning

confidence: 99%

Anti‐IgLON5 Disease Responsive to Immunotherapy: A Case Report with an Abnormal MRI

Moreno‐Estébanez

García-Ormaechea

Tijero

et al. 2018

Movement Disord Clin Pract

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“…Neurological disorders tended to be multifocal, although consistent with prior reports, findings of brainstem encephalopathy (affecting primarily movement, gait, and balance) and sleep were most common. 6–8,10–13 Sleep disorders were frequent, but the clinical spectrum seemed more heterogenous than previous reports of patients presenting to sleep clinics. We encountered both mild and severe sleep disorders, possibly due to our screening process (for antibody rather than for clinical phenotype).…”

Section: Discussionmentioning

confidence: 85%

IgLON5 antibody

Komorowski

Ka³

et al. 2017

Neurol Neuroimmunol Neuroinflamm

176

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Objective:To describe the phenotypes, treatment response, and outcome of IgLON5 autoimmunity.Methods:Archived serum and CSF specimens from 367 patients known to harbor unclassified antibodies which stained neural synapses diffusely (mimicking amphiphysin-IgG) were reevaluated by indirect immunofluorescence assay (IFA) using a composite of mouse tissues and recombinant IgLON5-transfected cell-based assay (CBA, Euroimmun).Results:Available specimens (serum, 25; CSF, 9) from 26/367 patients (7%) had identical IFA appearance and robust IgLON5 CBA positivity. Clinical information was available for 20/26 patients; 13 were women. Median disease-onset age was 62 years (range, 46–75 years). Most patients had insidious onset and progression of neurological symptoms affecting movement and sleep predominantly. Sleep disorders were sleep-disordered breathing (11) and parasomnias (3). Brainstem disorders were gait instability (14), dysphagia (10), abnormal eye movements (7), respiratory dysfunction (6), ataxia (5), craniocervical dystonia (3), and dysarthria (3). Findings compatible with hyperexcitability included myoclonus (3), cramps (3), fasciculations (2), and exaggerated startle (2). Neuropsychiatric disorders included cognitive dysfunction (6), psychiatric symptoms (5), and seizures (1). Dysautonomia, in 9, affected bladder function (7), gastrointestinal motility (3), thermoregulation (3), and orthostatic tolerance (1). Just 2 patients had coexisting autoimmune disease. Brain MRI findings were nonspecific and CSF was noninflammatory in all tested. Seven of 9 immunotherapy-treated patients improved: 6 of those 7 were stable at last follow-up. Three untreated patients died. Each IgLON5-IgG subclass (1–4) was readily detectable in ≥80% of specimens using CBA.Conclusions:IgLON5-IgG is diagnostic of a potentially treatable neurological disorder, where autoimmune clues are otherwise lacking.

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“…Since then, additional cases have been reported . They have displayed a broadly similar sleep phenotype, together with a progressive neurodegenerative course.…”

Section: Other Sleep Disorders With Abnormal Body Movementsmentioning

confidence: 99%

Sleep‐related motor and behavioral disorders: Recent advances and new entities

et al. 2018

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Patients with sleep-related motor and behavioral disorders present to a variety of subspecialty clinics (neurology, sleep medicine, respiratory medicine, psychiatry). Diagnosing these disorders can be difficult, and sometimes they have a significant impact on quality of life. Alongside a number of common and well-recognized conditions, several new disease entities have been described in recent years that present with abnormal nocturnal motor phenomena (such as ADCY5-associated disease and anti-IgLON5 disease). Our understanding of the neural basis and prognostic significance of other sleep-related disorders has also grown, particularly rapid eye movement sleep behavior disorder. This review (along with a collection of previously unpublished videos) is intended to aid in the recognition and treatment of these patients. The recent change in terminology from nocturnal frontal lobe epilepsy to sleep-related hypermotor epilepsy is also discussed. © 2018 International Parkinson and Movement Disorder Society.

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Clinical manifestations of the anti-IgLON5 disease

Cited by 317 publications

References 21 publications

Anti‐IgLON5 Disease Responsive to Immunotherapy: A Case Report with an Abnormal MRI

Anti‐IgLON5 Disease Responsive to Immunotherapy: A Case Report with an Abnormal MRI

IgLON5 antibody

Sleep‐related motor and behavioral disorders: Recent advances and new entities

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