Neuromyelitis optica in a child with Aicardi-GoutiÈres syndrome

Hacohen, Yael; Zuberi, Sameer M.; Vincent, Angela; Crow, Yanick J.; Cordeiro, N.J.V.

doi:10.1212/wnl.0000000000001792

Cited by 21 publications

(14 citation statements)

References 8 publications

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“…There is a clear association of certain type I interferonopathies with autoimmunity, and SLE in particular, as indicated by the co-occurrence of such rare phenotypes (e.g., Dale et al, 2000; De Laet et al, 2005; Hacohen et al, 2015; Van Eyck et al, 2015). Furthermore, a broad spectrum of autoantibodies has been observed in patients with AGS (Cuadrado et al, 2015a; Zhang et al, 2015; Cattalini et al, 2016), albeit distinct from other autoimmune diseases.…”

Section: Autoinflammation or Autoimmunity?mentioning

confidence: 99%

Type I interferon–mediated monogenic autoinflammation: The type I interferonopathies, a conceptual overview

Rodero

Crow

2016

Journal of Experimental Medicine

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363

328

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Section: Autoinflammation or Autoimmunity?mentioning

confidence: 99%

Type I interferon–mediated monogenic autoinflammation: The type I interferonopathies, a conceptual overview

Rodero

Crow

2016

Journal of Experimental Medicine

Self Cite

363

328

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“…A recent report of a patient with coexisting Aicardi-Goutières syndrome and NMOSD suggests that conditions impairing immune function may lead to a milieu favoring development of NMOSD. 79 Paraneoplastic Disease. A small percentage of patients with NMOSD have coexisting cancers of a variety of types, 65,67,68 and in rare instances, AQP4 expression has been documented in the tumor associated with inflammatory changes.…”

Section: Pathogenesis Of Nmomentioning

confidence: 99%

Neuromyelitis Spectrum Disorders

Weinshenker

Wingerchuk

2017

Mayo Clinic Proceedings

242

210

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The understanding of neuromyelitis optica spectrum disorder (NMOSD) has evolved substantially since its initial description over a century ago. The discovery in 2004 of a pathogenic autoantibody biomarker targeting aquaporin 4 IgG revolutionized diagnosis and therapeutic development. Although NMOSD resembles multiple sclerosis (MS), differences were identified and articulated in the late 1990s. New diagnostic criteria incorporating the biomarker as well as better understanding of the clinical and radiologic features of NMOSD now permit accurate diagnosis and differentiation from MS. Aquaporin 4 IgG-associated NMOSD is now regarded as an immune astrocytopathy with lytic and nonlytic effects on astrocytes. A second autoantibody, myelin oligodendrocyte glycoprotein IgG, which targets myelin rather than astrocytes, leads to an NMOSD syndrome with clinical and radiologic features that overlap but are distinct from those of aquaporin 4 IgG-associated NMOSD and MS. We review current understanding of the clinical aspects, pathophysiology, and treatment of NMOSD.

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“…This label aligns the in-vivo, biomarker-based definition of Alzheimer's disease with the neuropathological definition. 3 Frisoni and colleagues 1 also propose that abnormal biomarkers in asymptomatic people should be labelled as risk factors for disease, rather than evidence of disease itself. It is well established that biomarkers of Alzheimer's disease become abnormal years before the onset of overt symptoms.…”

Section: Preclinical Alzheimer's Disease: a Valid Conceptmentioning

confidence: 99%

“…can be constitutively produced in rare genetic diseases of IFN activation in children, as well as in adults with systemic lupus erythematosus. 2 We identified a 3-year-old girl with a genetic interferonopathy due to an activating mutation in IFIH1 (patient 3; figure, table), 3 and a 40-year-old woman with systemic lupus erythematosus (patient 4; figure, table). Both patients developed inflammatory lesions affecting the cervical spinal cord, associated with aquaporin-4 antibodies.…”

Section: Preclinical Alzheimer's Disease: a Valid Conceptmentioning

confidence: 99%