Seasonal distribution of attacks in aquaporin-4 antibody disease and myelin-oligodendrocyte antibody disease.

Background: Seasonal variation in incidence and exacerbations has been reported for neuroinflammatory conditions such as multiple sclerosis and acute disseminated encephalomyelitis (ADEM). It is unknown whether seasonality also influences aquaporin-4 antibody (AQP4-Ab) disease and myelin-oligodendrocyte antibody (MOG-Ab) disease.

Objective: We examined the seasonal distribution of attacks in AQP4-Ab disease and MOG-Ab disease.

Therapeutic options in neuromyelitis optica spectrum disorders.

Neuromyelitis optica is a relapsing inflammatory disorder of the central nervous system that manifests predominantly with attacks of optic neuritis and longitudinally extensive transverse myelitis; attacks are often severe. In contrast to multiple sclerosis, a secondary progressive phase is rare, and disability in neuromyelitis optica spectrum disorders is related to relapses. Thus, prompt and effective treatment of relapses, and early initiation of long-term immunosuppression to prevent subsequent attacks is required in order to prevent morbidity and mortality.

Pregnancy outcomes in aquaporin-4-positive neuromyelitis optica spectrum disorder.

Objective: To investigate the association between neuromyelitis optica spectrum disorder (NMOSD) and pregnancy outcome.

Methods: An international cohort of women with aquaporin-4 antibody-positive NMOSD and ≥1 pregnancy was studied retrospectively. Multivariate logistic regression was used to investigate whether pregnancy after NMOSD onset was associated with an increased risk of miscarriage (cohort of 40 women) or preeclampsia (cohort of 57 women).

Aquaporin-4 antibody isoform binding specificities do not explain clinical variations in NMO.

Objective: To assess the clinical relevance of the differential binding of antibodies against the 2 main aquaporin-4 (AQP4) isoforms in neuromyelitis optica (NMO) patient sera using stably transfected human embryonic kidney cells.

Methods: Flow cytometry of human embryonic kidney cells stably transfected with either M23 or M1 AQP4 was used to measure antibody endpoint titers in 52 remission samples and 26 relapse samples from 34 patients with clinically well-characterized AQP4 antibody-positive NMO/NMO spectrum disorder.

Results: The AQP4 M23 (40-61,440) and AQP4 M1 (<20-20,480) titers varied widely between patients, as did the M23:M1 antibody ratio (1-192).

Predictive value of MRI parameters in severity and recovery of first-episode myelitis in aquaporin-4 antibody disease.

Background: Neuromyelitis optica spectrum disorder (NMOSD) associated with aquaporin-4 antibodies (AQP4-Ab) typically causes longitudinally-extensive transverse myelitis (LETM). Few data exist about the association of MRI features with LETM attack severity and recovery.

Methods: AQP4-Ab positive NMOSD patients with a first myelitis attack were retrospectively identified and spinal MRI scans reviewed.

Opportunistic infections of the retina in patients with aquaporin-4 antibody disease.

Importance: Patients with neuromyelitis optica who have aquaporin-4 antibodies are being identified and receiving immunosuppressant treatment earlier and more aggressively as a result of increasing awareness of the importance of preventing relapses responsible for the high morbidity and mortality associated with the disease. To our knowledge, opportunistic retinal infection in patients with aquaporin-4 antibodies who are receiving immunosuppressants has not been reported to date.

Observations: We describe 2 patients with aquaporin-4 antibodies who were receiving conventional doses of first-line immunosuppressive therapy.

Paediatric neuromyelitis optica: clinical, MRI of the brain and prognostic features.

Background: Neuromyelitis Optica (NMO) is a severe and rare inflammatory condition, where relapses are predictive of disability.

Methods: We describe a national paediatric NMO cohort's clinical, MRI, outcome, and prognostic features in relation to Aquaporin-4 antibody (AQP4-Ab) status, and compared to a non NMO control cohort.

Observations: Twenty NMO cases (females = 90%; AQP4-Ab positive = 60%; median age = 10.

Long-term efficacy, tolerability and retention rate of azathioprine in 103 aquaporin-4 antibody-positive neuromyelitis optica spectrum disorder patients: a multicentre retrospective observational study from the UK.

Background: Azathioprine (AZA) is a common immunosuppressive drug used for relapse prevention in neuromyelitis optica (NMO).

Objectives: The objective of this paper is to assess efficacy, tolerability and retention of AZA in a large NMO cohort.

Methods: We conducted a retrospective review of medical records of 103 aquaporin-4 antibody-positive NMO and NMO spectrum disorder (NMOSD) patients treated with AZA.

Catastrophic brain relapse in seronegative NMO after a single dose of natalizumab.

Natalizumab, an effective treatment for MS, has been shown to exacerbate neuromyelitis optica (NMO) with aquaporin-4 antibodies, but whether this is the case in antibody negative NMO and atypical MS/NMO spectrum disorder overlap syndromes is unknown. We describe a patient with a relapsing optico-spinal demyelinating syndrome, negative for aquaporin-4 antibodies, who experienced a catastrophic brain relapse shortly after a single dose of natalizumab, highlighting that MS immunomodulatory drugs may worsen demyelination in patients with seronegative NMO and atypical MS/NMO overlap syndromes even if they are aquaporin-4 antibody negative. We summarise the treatments considered safe and effective in NMO, and those with potential to exacerbate disease.

Neuromyelitis optica spectrum disorders with aquaporin-4 and myelin-oligodendrocyte glycoprotein antibodies: a comparative study.

Importance: Most patients with neuromyelitis optica (NMO) and many with NMO spectrum disorder have autoantibodies against aquaporin-4 (AQP4-Abs), but recently, myelin-oligodendrocyte glycoprotein antibodies (MOG-Abs) have been found in some patients. Here, we showed that patients with NMO/NMOSD with MOG-Abs demonstrate differences when compared with patients with AQP4-Abs.

Objective: To characterize the features of patients with NMO/NMOSD with MOG-Abs and compare them with patients with AQP4-Ab-positive NMO/NMOSD.

Longitudinally extensive transverse myelitis with and without aquaporin 4 antibodies.

Importance: Aquaporin 4 antibody (AQP4-Ab)-negative patients with longitudinally extensive transverse myelitis (LETM) behave differently from those with AQP4-Ab. Aquaporin 4 antibody-negative neuromyelitis optica (NMO) is rare when good assays are used.

Objective: To assess if AQP4-Ab-negative patients with LETM share similar disease characteristics with AQP4-Ab-positive patients or whether they have distinct features and alternative diagnoses.

Methotrexate is an alternative to azathioprine in neuromyelitis optica spectrum disorders with aquaporin-4 antibodies.

Background: Neuromyelitis optica (NMO) is a severe autoimmune inflammatory disorder associated with considerable relapse-related disability. Immunosuppression is the mainstay of treatment but many patients do not tolerate first-line immunosuppressive agents, or experience ongoing relapses.

Objective: To evaluate the effectiveness and tolerability of methotrexate in aquaporin-4 antibody seropositive NMO spectrum disorders.

Myelin-oligodendrocyte glycoprotein antibodies in adults with a neuromyelitis optica phenotype.

Objectives: To report an association of myelin-oligodendrocyte glycoprotein (MOG) antibodies with aquaporin-4 (AQP4) antibody-seronegative neuromyelitis optica (NMO) and neuromyelitis optica spectrum disorder (NMOSD) in adults.

Methods: We describe the clinical and serologic features of 4 adult patients with an NMO/NMOSD phenotype who had antibodies to MOG.

Results: Twenty-seven adult AQP4-seronegative NMO/NMOSD patients were tested for MOG antibodies.

Prognostic factors and disease course in aquaporin-4 antibody-positive patients with neuromyelitis optica spectrum disorder from the United Kingdom and Japan.

Neuromyelitis optica and neuromyelitis optica spectrum disorders have been recently associated with the disease-specific autoantibody aquaporin-4, thought to be pathogenic. Identifying this antibody has allowed the clinical phenotype to be broadened. It is clear that some patients with similar clinical features do not have this antibody and may have a different condition with different outcomes and prognosis.

Detrimental role of granulocyte-colony stimulating factor in neuromyelitis optica: clinical case and histological evidence.

In a recent study, administration of granulocyte colony stimulating factor (G-CSF) increased neuromyelitis optica (NMO) lesions in mice. Here we report a patient whose first episode of NMO may have been exacerbated by inadvertent administration of G-CSF. Histological examination of brain and spinal cord samples from three other NMO patients revealed markedly increased expression of G-CSF in neurons located in and around the lesions, with little or no expression in multiple sclerosis lesions or normal white matter.

Neurologic manifestations of the cryopyrin-associated periodic syndrome.

Background: The cryopyrin-associated periodic syndrome (CAPS) is a rare but treatable hereditary autoinflammatory condition. Without treatment, one third of patients develop amyloidosis with consequent renal failure and death. CAPS encompasses 3 conditions: familial cold autoinflammatory syndrome, Muckle-Wells syndrome, and chronic infantile, neurologic, cutaneous, and articular syndrome.