Late presentation of NMOSD as rapidly progressive leukoencephalopathy with atypical clinical and radiological findings

Sechi, Elia; Addis, Alberto; Batzu, Lucia; Mariotto, Sara; Ferrari, Sergio; Conti, Maurizio; Sechi, GianPietro

doi:10.1177/1352458517721661

Cited by 16 publications

(12 citation statements)

References 9 publications

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“…Large T2 hyperintensities with indistinct margins can be encountered and involve the middle cerebellar peduncle (Figure 2A1) in the infratentorial region or deep gray matter in the supratentorial region (19,(55)(56)(57). MOG antibodies are found in 30-50% of ADEM patients while AQP4 autoantibodies account for a much smaller proportion of cases (<5%) (2,19,58). In contrast to multiple sclerosis, oligoclonal bands are detected in only a minority (<20%) of patients with these autoantibodies (59)(60)(61).…”

Section: Paraneoplastic and Non-demyelinating Syndromes Suggestive For An Antibody-mediated Etiologymentioning

confidence: 99%

Antibody-Mediated Autoimmune Diseases of the CNS: Challenges and Approaches to Diagnosis and Management

Sechi

Flanagan

2021

Front. Neurol.

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Antibody-mediated disorders of the central nervous system (CNS) are increasingly recognized as neurologic disorders that can be severe and even life-threatening but with the potential for reversibility with appropriate treatment. The expanding spectrum of newly identified autoantibodies targeting glial or neuronal (neural) antigens and associated clinical syndromes (ranging from autoimmune encephalitis to CNS demyelination) has increased diagnostic precision, and allowed critical reinterpretation of non-specific neurological syndromes historically associated with systemic disorders (e.g., Hashimoto encephalopathy). The intracellular vs. cell-surface or synaptic location of the different neural autoantibody targets often helps to predict the clinical characteristics, potential cancer association, and treatment response of the associated syndromes. In particular, autoantibodies targeting intracellular antigens (traditionally termed onconeural autoantibodies) are often associated with cancers, rarely respond well to immunosuppression and have a poor outcome, although exceptions exist. Detection of neural autoantibodies with accurate laboratory assays in patients with compatible clinical-MRI phenotypes allows a definite diagnosis of antibody-mediated CNS disorders, with important therapeutic and prognostic implications. Antibody-mediated CNS disorders are rare, and reliable autoantibody identification is highly dependent on the technique used for detection and pre-test probability. As a consequence, indiscriminate neural autoantibody testing among patients with more common neurologic disorders (e.g., epilepsy, dementia) will necessarily increase the risk of false positivity, so that recognition of high-risk clinical-MRI phenotypes is crucial. A number of emerging clinical settings have recently been recognized to favor development of CNS autoimmunity. These include antibody-mediated CNS disorders following herpes simplex virus encephalitis or occurring in a post-transplant setting, and neurological autoimmunity triggered by TNFα inhibitors or immune checkpoint inhibitors for cancer treatment. Awareness of the range of clinical and radiological manifestations associated with different neural autoantibodies, and the specific settings where autoimmune CNS disorders may occur is crucial to allow rapid diagnosis and early initiation of treatment.

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Section: Paraneoplastic and Non-demyelinating Syndromes Suggestive For An Antibody-mediated Etiologymentioning

confidence: 99%

Antibody-Mediated Autoimmune Diseases of the CNS: Challenges and Approaches to Diagnosis and Management

Sechi

Flanagan

2021

Front. Neurol.

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“…However, the discovery of a specific antibody (Ab) directed against aquaporin-4 (AQP4-immunoglobulin (Ig)G), the main channel protein that facilitates the transport of water at the astroglial cell level in the CNS, has conferred to the pathology an identity different from MS. 8 At present, the term NMO spectrum disorders (NMOSD) also includes patients with AQP4-IgG positivity and signs/symptoms related to involvement of CNS regions other than the spinal cord and optic nerves, such as brainstem, diencephalon and subcortical white matter. 9 , 10 Moreover, a variant AQP4-negative is known, which can be diagnosed when definite clinical and neuroimaging criteria specific for NMOSD are satisfied. 9 These “seronegative” forms represent approximately 12% and are likely due to the known fluctuations in the serum autoantibody titer below the identification threshold.…”

Section: Introductionmentioning

confidence: 99%

Antibody response against HERV-W env surface peptides differentiates multiple sclerosis and neuromyelitis optica spectrum disorder

Arru

Sechi

Mariotto

et al. 2017

Multiple Sclerosis Journal - Experimental, Translational and Cl

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BackgroundA specific humoral immune response against HERV-W envelope surface (env-su) glycoprotein antigens has been reported in serum of patients with multiple sclerosis (MS). However, it has not been evaluated to date in patients with neuromyelitis optica spectrum disorder (NMOSD).ObjectiveThe objective of this paper is to investigate whether antibody (Ab) response against HERV-W env-su antigenic peptides differs between NMOSD and MS.MethodsSerum samples were collected from 36 patients with NMOSD, 36 patients with MS and 36 healthy control individuals (HCs). An indirect ELISA was set up to detect specific Abs against HERV-W env-su peptides.ResultsOur data showed that two antigenic peptides, particularly HERV-Wenv93–108 and HERV-Wenv248–262, were statistically significantly present only in serum of MS compared to NMOSD and HCs. Thus, the specific humoral immune response against HERV-W env-su glycoprotein antigens found in MS is widely missing in NMOSD.ConclusionIncreased circulating serum levels of these HERV-W Abs may be suitable as additional biomarkers to better differentiate MS from NMOSD.

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“…Late-onset NMOSD may often be comorbid with age-related conditions compared with early-onset NMOSD [6]. Moreover, elderly patients have a tendency for a rapid worsening of their condition and poor response to immunomodulatory therapies [5, 7]. Therefore, an immediate diagnosis and awareness of the possibility of NMOSD in elderly patients are necessary [8].…”

Section: Discussion/conclusionmentioning

confidence: 99%

Very-Late-Onset Neuromyelitis Optica Spectrum Disorder in a Patient with Breast Cancer and Parkinson Disease

et al. 2021

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Anti-aquaporin-4 (anti-AQP-4) antibody-positive neuromyelitis optica spectrum disorder (NMOSD) is a rare autoimmune disorder resulting in severe, recurrent optic neuritis, transverse myelitis, brain stem syndrome, and other types of neurological involvement. Its median age of onset has been reported to be around 40 years. We report herein a case of very-late-onset NMOSD (76 years of age) and try to promote its awareness as a type of neurological deterioration in elder patients. A 76-year-old woman suffering from Parkinson disease was admitted to our hospital because of consciousness disturbance. Cranial magnetic resonance imaging revealed the presence of fluid-attenuated inversion recovery high-signal-intensity lesions in the right peri- and intralateral ventricle. Part of this lesion and the meninges showed gadolinium enhancement. Physical examination revealed the presence of a tumor in the right breast, which was later diagnosed as invasive ductal carcinoma. In addition, laboratory examinations led to the detection of anti-AQP-4 antibodies in her serum; consequently, the patient was diagnosed as having NMOSD. She received initial pulsed steroid therapy, followed by right mastectomy. Although the patient’s consciousness improved significantly, she developed abrupt-onset bilateral leg weakness and multiple longitudinal spinal cord lesions. Additional steroid therapy ameliorated the patient’s leg weakness and reduced the swelling of the spinal cord.

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Late presentation of NMOSD as rapidly progressive leukoencephalopathy with atypical clinical and radiological findings

Cited by 16 publications

References 9 publications

Antibody-Mediated Autoimmune Diseases of the CNS: Challenges and Approaches to Diagnosis and Management

Antibody-Mediated Autoimmune Diseases of the CNS: Challenges and Approaches to Diagnosis and Management

Antibody response against HERV-W env surface peptides differentiates multiple sclerosis and neuromyelitis optica spectrum disorder

Very-Late-Onset Neuromyelitis Optica Spectrum Disorder in a Patient with Breast Cancer and Parkinson Disease

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