Sleep disorder, chorea, and dementia associated with IgLON5 antibodies

Simabukuro, Mateus Mistieri; Sabater, Lidia; Adoni, Tarso; Cury, Rubens Gisbert; Haddad, Mônica Santoro; Moreira, Camila Hobi; Oliveira, Luana Viana de; Boaventura, Mateus; Alves, Rosana Cardoso; Soster, Leticia Azevedo; Nitrini, Ricardo; Gaig, Carles; Santamaría, Joan; Dalmau, Josep; Graus, Francesc

doi:10.1212/nxi.0000000000000136

Cited by 65 publications

(44 citation statements)

References 7 publications

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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: 83%

IgLON5 antibody

Komorowski

Ka³

et al. 2017

Neurol Neuroimmunol Neuroinflamm

183

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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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Section: Discussionmentioning

confidence: 83%

IgLON5 antibody

Komorowski

Ka³

et al. 2017

Neurol Neuroimmunol Neuroinflamm

183

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“…1,[5][6][7][8] The median age at diagnosis was 64 years (range 46-83) and the median time to diagnosis was 30 months (range 3-216). All patients were seen by one or more of the authors with a geographic distribution including Europe (20), Australia (1), and Brazil (1).…”

Section: Resultsmentioning

confidence: 99%

Clinical manifestations of the anti-IgLON5 disease

et al. 2017

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“…The literature search initially retrieved 113 studies published between 2014 and 2019, from which 35 were excluded as duplicates, 38 after reading the title and abstract and 22 after reading the whole article (Table S1). Therefore, 18 articles met the selection criteria (see Figure 1): three case series 1,7,8 and 15 case reports, [11][12][13][14][15][16][17][18][19][20][21][22][23][24][25][26][27][28] all with a SIGN level of evidence of 3, which described a total of 46 patients with IgLON5 treated with IT (Table 1).…”

Section: Searchmentioning

confidence: 99%

Response to immunotherapy in anti‐IgLON5 disease: A systematic review

et al. 2020

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The aim of this study was to evaluate the frequency of response to immunotherapy in patients with anti‐IgLON5 disease through a systematic review of the literature. MEDLINE and Embase databases were searched for studies that included patients with anti‐IgLON5 disease who received immunotherapy (IT). Review inclusion criteria were met by 18 studies. The main study variable was response to IT, defined as the frequency of patients with an improvement greater than mild in at least one of the main symptoms defined by the clinical phenotype. Data were also gathered on the rate of response to last follow‐up, the line(s) of IT received, the administration of monotherapy or combination therapy, and clinical and analytical characteristics. Selected studies included a total of 46 patients. A response to IT was observed in 20 (43.4%) and the presence of response to last follow‐up in 15 (32.6%). Response was achieved more frequently with combination therapy vs monotherapy (14/21 [66.6%] vs 7/22 [31.8%]) and second‐line therapy vs first‐line therapy (7/13 [53.8%] vs 15/46 [32.6%]). The response rate by drug was 34.2% (12/35) for steroids, 42.8% (9/21) for IVIg, 46% (7/15) for PLEX, 100% (5/5) for AZA and 75% (3/4) for MMF. Factors associated with a response to IT included the cognitive impairment and non‐classical phenotypes, presence of HLA‐DQB1*05:01 without HLA‐DRB1*10:01 and cerebral spinal fluid inflammation. Patients with anti‐IgLON5 disease respond to IT, and this response is associated with certain clinical and analytical characteristics of the patients. Also rate of response seems higher with second‐line and combination treatment. However, the quality of available studies is inadequate to allow definitive conclusions to be drawn.

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Sleep disorder, chorea, and dementia associated with IgLON5 antibodies

Cited by 65 publications

References 7 publications

IgLON5 antibody

IgLON5 antibody

Clinical manifestations of the anti-IgLON5 disease

Response to immunotherapy in anti‐IgLON5 disease: A systematic review

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