Myasthenia gravis and neuromyelitis optica spectrum disorder

Leite, Maria Isabel; Coutinho, Estér; Lana-Peixoto, Marco Aurélio; Apostolos, S; Waters, Patrick; Sato, Douglas Kazutoshi; Melamud, Luciana; Marta, Mónica; Graham, Anne; Spillane, Jennifer; Villa, Andrés; Callegaro, Dagoberto; Santos, Ernestina; Silva, A M da; Jarius, Sven; Howard, Robin S.; Nakashima, Ichiro; Giovannoni, Gavin; Buckley, Camilla; Hilton‐Jones, David; Vincent, Angela; Palace, Jackie

doi:10.1212/wnl.0b013e31825644ff

Cited by 192 publications

(145 citation statements)

References 35 publications

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“…In spite of having found a higher percentage of patients with concomitant autoimmune disorders (15 patients, 22.4%) than it was reported in the French [16] (10.4%) and Hong Kong [18] (10.6%) studies, most of the encountered disorders were similar (mainly SLE and Sjogren's syndrome) except for the two cases of myasthenia gravis described in our cohort [13] and also in the Austrian one [20]. Since 66.7% of patients with autoimmune diseases had positive AQP4-IgG antibody, we hypothesize that its presence may be faced as an "autoimmune marker".…”

Section: Discussioncontrasting

confidence: 93%

“…A common denominator of autoimmunity in NMO is suggested by its association with other autoimmune conditions (10-40% of patients) such as thyroiditis, myasthenia gravis, systemic lupus erythematosus (SLE) and Sjögren's syndrome or more often (50%) by the presence of circulating autoantibodies in the absence of clinical symptoms or autoimmune disease [1,12,13].…”

Section: Introductionmentioning

confidence: 99%

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Neuromyelitis optica in Portugal (NEMIPORT) – A multicentre study

Domingos

Isidoro

Figueiredo

et al. 2015

Clinical Neurology and Neurosurgery

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Results: Sixty-seven patients fulfilled the inclusion criteria. They were mainly Caucasian, 55 female. Median age at onset was 32.0 years and mean follow-up 7.4 ± 6.0 years. Twenty-one patients were definite NMO and optic neuritis (ON) the most frequent initial presentation. Forty-six were classified as NMO spectrum disorders. The main subtypes were recurrent ON and single longitudinally extensive transverse myelitis. Twenty-four patients had positive AQP4-IgG. Twenty-three had other circulating autoantibodies. Fifteen out of 67 patients had concomitant autoimmune disease. There was a significant correlation between the presence of autoimmune disease and the positivity for AQP4-IgG. Five patients died, all definite NMO. Conclusion: This is the first study about this rare disease in Portugal. Demographic features were similar to other studies. The existence of concomitant autoimmune disease was significantly associated with seropositivity for AQP4-IgG.

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Section: Discussioncontrasting

confidence: 93%

Section: Introductionmentioning

confidence: 99%

Neuromyelitis optica in Portugal (NEMIPORT) – A multicentre study

Domingos

Isidoro

Figueiredo

et al. 2015

Clinical Neurology and Neurosurgery

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“…In Leite et al's series of 16 subjects, more than 70% of those with coexisting MG and NMO spectrum disorder had a previous thymectomy, although the exact pathophysiological explanation is yet to be determined due to the rarity of this association. 17 The current evidence of the coexistence of MG and NMO spectrum disorder is summarised in Table 1. 16,17 Our patient presented with bilateral recurrent optic neuritis prior to the onset of ocular MG and was later confirmed to have NMO spectrum disorder via seropositivity for NMO-IgG.…”

Section: Discussionmentioning

confidence: 99%

“…17 The current evidence of the coexistence of MG and NMO spectrum disorder is summarised in Table 1. 16,17 Our patient presented with bilateral recurrent optic neuritis prior to the onset of ocular MG and was later confirmed to have NMO spectrum disorder via seropositivity for NMO-IgG. It has been reported in the literature that in 90-98% of subjects, the diagnosis of MG preceded that of NMO spectrum disorder with a lapse time ranging from 4 to 16 years.…”

Section: Discussionmentioning

confidence: 99%

“…It has been reported in the literature that in 90-98% of subjects, the diagnosis of MG preceded that of NMO spectrum disorder with a lapse time ranging from 4 to 16 years. 10,17 Although thymectomy has been postulated as a triggering factor for NMO spectrum disorder, 17 a low index of suspicious for NMO spectrum disorder may lead to its delayed diagnosis due to the absence of the typical systemic features of NMO.…”

Section: Discussionmentioning

confidence: 99%

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Neuromyelitis Optica Spectrum Disorder in a Chinese Woman with Ocular Myasthenia Gravis: First Reported Case in the Chinese Population

Yau

Lee

Chan

et al. 2014

Neuro-Ophthalmology

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Coexisting myasthenia gravis and neuromyelitis optica spectrum disorder was reported as a rare association, with only 26 reported cases in the literature. The authors report the case of a middle-aged Chinese woman with bilateral recurrent optic neuritis and seropositive ocular myasthenia gravis who was subsequently diagnosed with neuromyelitis optica spectrum. She was tested seropositive for the neuromyelitis optica immunoglobulin G (NMO-IgG) and had elevated antinuclear antibody titres, but workup for other autoimmune disorders were negative. She was subsequently prescribed with azathioprine and pyridostigmine, and showed good control of both autoimmune disorders. To the best of the authors' knowledge, this is the first reported case in the literature of a Chinese patient with seropositivity for both anti-acetylcholine receptor and NMO-IgG without a thymic disorder. Testing of NMO-IgG may be considered in patients with optic neuritis with underlying autoimmune disorders even in the absence of transverse myelitis for the detection of associated neuromyelitis optica spectrum disorders.

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Frequency of Synaptic Autoantibody Accompaniments and Neurological Manifestations of Thymoma

2016

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IMPORTANCE Thymoma is commonly recognized in association with paraneoplastic autoimmune myasthenia gravis (MG), an IgG-mediated impairment of synaptic transmission targeting the nicotinic acetylcholine receptor of muscle. Newly identified synaptic autoantibodies may expand the serological profile of thymoma. OBJECTIVE To investigate the frequency of potentially pathogenic neural synaptic autoantibodies in patients with thymoma. DESIGN, SETTING, AND PARTICIPANTS We retrospectively identified patients with histopathologically confirmed thymoma and serum available to test for synaptic autoantibodies (collected 1986-2014) at the Mayo Clinic Neuroimmunology Laboratory. We identified and classified 193 patients with thymoma into 4 groups: (1) lacking neurological autoimmunity (n = 43); (2) isolated MG (n = 98); (3) MG plus additional autoimmune neurological manifestations (n = 26); and (4) neurological autoimmunity other than MG (n = 26). MAIN OUTCOMES AND MEASURES Clinical presentation and serum profile of autoantibodies reactive with molecularly defined synaptic plasma membrane proteins of muscle, peripheral, and central nervous systems. RESULTS Of the 193 patients with thymoma, mean patient age was 52 years and did not significantly differ by sex (106 women) or group. Myasthenia gravis was the most prevalent clinical manifestation (64%) followed by dysautonomia (16 patients [8%]) and encephalopathy (15 patients [8%]); 164 patients (85%) had at least 1 synaptic autoantibody, and 63 of these patients (38%) had at least 1 more. Muscle acetylcholine receptor was most frequent (78%), followed by ganglionic acetylcholine receptor (20%), voltage-gated Kv1 potassium channel-complex (13%), and α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor (5%). Less frequent were aquaporin-4, voltage-gated Kv1 potassium channel-complex related proteins (leucine-rich glioma-inactivated 1 and contactin-associated protein-like 2), glycine receptor, and γ-aminobutyric acid-A receptor. Synaptic autoantibodies were significantly more frequent in patients with neurological autoimmunity than in those without and were most frequent in patients with neurological manifestations other than or in addition to MG. CONCLUSIONS AND RELEVANCE Synaptic autoantibodies, particularly those reactive with ion channels of the ligand-gated nicotinic acetylcholine receptor superfamily (namely α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid, glycine, and γ-aminobutyric acid-A receptors), were prevalent in patients with thymoma. Autoantibodies of this extended spectrum may enhance autoimmune serological testing as an aid to preoperative thymoma diagnosis. Detection of currently known synaptic autoantibody specificities absent from this profile have potential algorithmic usefulness as negative predictors for thymoma (as recognized for neuronal voltage-gated calcium channel autoantibodies).

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Myasthenia gravis and neuromyelitis optica spectrum disorder

Cited by 192 publications

References 35 publications

Neuromyelitis optica in Portugal (NEMIPORT) – A multicentre study

Neuromyelitis optica in Portugal (NEMIPORT) – A multicentre study

Neuromyelitis Optica Spectrum Disorder in a Chinese Woman with Ocular Myasthenia Gravis: First Reported Case in the Chinese Population

Frequency of Synaptic Autoantibody Accompaniments and Neurological Manifestations of Thymoma

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