Autoimmune glial fibrillary acidic protein astrocytopathy: case report of a treatable cause of rapidly progressive dementia

Toledano-Illán, Carlos; Vázquez, Inés; Zelaya, María Victoria; Rosales, Juan J.; Nuin, A. Paternain; Lostao, J. Arbizu; Eulate, M. R. Garcia de; Riverol, Mario

doi:10.1007/s00415-021-10484-y

Cited by 8 publications

(7 citation statements)

References 9 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In the absence of therapeutic options for frontotemporal dementia, our case reveals the need for neural autoantibody testing in such patients. We wish to draw attention to the recently reported case of patient with GFAP antibody-associated progressive dementia ( 28 ) who responded rapidly (and so well) to immunotherapy that led to a stabilization without further deterioration of her dementia.…”

Section: Discussionmentioning

confidence: 99%

Case Report: Semantic Variant of Primary Progressive Aphasia Associated With Anti-Glial Fibrillary Acid Protein Autoantibodies

Hansen¹,

Stöcker

Wiltfang

et al. 2022

Front. Immunol.

View full text Add to dashboard Cite

BackgroundFrontotemporal lobar degeneration is a heterogeneous disorder entailing a semantic variant of primary progressive aphasia (svPPA). A subtype of frontotemporal dementia associated with glutamate receptor subunit 3 (GluA3) antibody of the α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor (AMPAR) was recently identified. Here, we describe the novelty of a svPPA associated with anti-glial fibrillary acid protein (GFAP) antibodies.MethodsTo diagnose this 68-year-old woman we conducted a clinical examination, neuropsychological testing, CSF analysis, MRI and 18F-fluorodeoxyglucose (18F-FDG) Positron Emission Tomography (PET)/computed tomography (CT) imaging.ResultsThe clinical phenotype corresponds to a svPPA based on impaired confrontation naming and single-word comprehension. In addition, we observed spared speech production, impaired object knowledge, and surface dyslexia - further supporting the diagnosis of svPPA. Additional characteristic imaging features such as anterior temporal hypometabolism in 18F-FDG PET/CT confirmed patient’s svPPA diagnosis. CSF analysis revealed signs of axonal degeneration, as both tau and phosphorylated tau proteins exceeded normal levels. Her serum showed anti-GFAP autoantibodies.ConclusionWe diagnosed a svPPA in this patient and report an association between serum anti-GFAP antibodies and svPPA never reported in the literature so far, thereby expanding the clinical spectrum of svPPA and anti-GFAP-antibody related disease. Further research is needed to elucidate the underlying immunopathology of this disease entity to ultimately improve treatment.

show abstract

Section: Discussionmentioning

confidence: 99%

Case Report: Semantic Variant of Primary Progressive Aphasia Associated With Anti-Glial Fibrillary Acid Protein Autoantibodies

Hansen¹,

Stöcker

Wiltfang

et al. 2022

Front. Immunol.

View full text Add to dashboard Cite

show abstract

“…These patients were similar to our own in that characteristic enhancement was revealed after initially unremarkable MRI findings, but their clinical courses involved relapse and remission or were insidious. Some patients with GFAP-A experience relapses ( 9 ) or chronic progression ( 10 , 11 ), but this is not common for GFAP-A. Our patient showed an acute meningoencephalitis-like disease course, which is representative of GFAP-A, and characteristic enhancement was observed even after intravenous methylprednisolone therapy in the acute phase.…”

Section: Discussionmentioning

confidence: 59%

“…Previously, a 31-year-old woman who had been receiving oral corticosteroids for 7 years, and initially been diagnosed with chronic lymphocytic inflammation with pontine perivascular enhancement-responsive lesions was reevaluated at the time of the seventh relapse, when haracteristic gadolinium enhancement of GFAP-A was first observed (9). Furthermore, a rapidly progressive demented 54-year-old man whose symptoms mimicked Creuzfeldt-Jakob disease was confirmed to have GFAP-A at six months from the first brain MRI (10). These patients were similar to our own in that characteristic enhancement was revealed after initially unremarkable MRI findings, but their clinical courses involved relapse and remission or were insidious.…”

Section: Discussionmentioning

confidence: 99%

Repeated Brain Magnetic Resonance Imaging Provides Clues for the Diagnosis of Autoimmune Glial Fibrillary Acid Protein Astrocytopathy

et al. 2022

View full text Add to dashboard Cite

We herein report a 47-year-old man with autoimmune glial fibrillary acidic protein astrocytopathy (GFAP-A) revealed by periventricular radial linear enhancement on repeated brain magnetic resonance imaging (MRI). He presented with a history of headache and a fever followed by somnolence and worsening of consciousness. On admission (16 days from the onset), although lymphocytic pleocytosis and hypoglycorrhachia in the cerebrospinal fluid (CSF) were noted, initial brain MRI demonstrated non-specific findings. At 30 days from the onset, repeated brain MRI revealed characteristic findings of GFAP-A, and we detected anti-GFAP antibodies in the CSF. Thus, repeated brain MRI provides clues for the diagnosis of GFAP-A.

show abstract

“…Conversely, smaller spinal lesions with an extension of less than three vertebral levels were noted in 10% of patients, frequently manifesting in a multifocal or patchy pattern. The lesions were predominantly located centrally within the cord, affecting the grey matter, and characterized as hazy, subtle, or diffuse on T2weighted imaging [1,2,7,26,27]. Notably, three case reports described the lesions as bilateral longitudinal with an eccentric location [28][29][30].…”

Section: Spinal Cord Mri Findingsmentioning

confidence: 99%

“…Whereas some authors reported normal findings [25], even in areas with pathology on MRI [39,40], others reported increased or decreased uptake in different regions [27]. A few studies reported high intramedullary metabolism associated with extensive myelitis [29,37,41].…”

Section: Advanced and Nuclear Neuroimaging Findingsmentioning

confidence: 99%

Clinical and neuroimaging phenotypes of autoimmune glial fibrillary acidic protein astrocytopathy: A systematic review and meta‐analysis

Hagbohm,

Ouellette,

Flanagan

et al. 2024

Euro J of Neurology

View full text Add to dashboard Cite

ObjectiveThis study was undertaken to provide a comprehensive review of neuroimaging characteristics and corresponding clinical phenotypes of autoimmune glial fibrillary acidic protein astrocytopathy (GFAP‐A), a rare but severe neuroinflammatory disorder, to facilitate early diagnosis and appropriate treatment.MethodsA PRISMA (Preferred Reporting Items for Systematic Reviews and Meta‐Analysis)‐conforming systematic review and meta‐analysis was performed on all available data from January 2016 to June 2023. Clinical and neuroimaging phenotypes were extracted for both adult and paediatric forms.ResultsA total of 93 studies with 681 cases (55% males; median age = 46, range = 1–103 years) were included. Of these, 13 studies with a total of 535 cases were eligible for the meta‐analysis. Clinically, GFAP‐A was often preceded by a viral prodromal state (45% of cases) and manifested as meningitis, encephalitis, and/or myelitis. The most common symptoms were headache, fever, and movement disturbances. Coexisting autoantibodies (45%) and neoplasms (18%) were relatively frequent. Corticosteroid treatment resulted in partial/complete remission in a majority of cases (83%). Neuroimaging often revealed T2/fluid‐attenuated inversion recovery (FLAIR) hyperintensities (74%) as well as perivascular (45%) and/or leptomeningeal (30%) enhancement. Spinal cord abnormalities were also frequent (49%), most commonly manifesting as longitudinally extensive myelitis. There were 88 paediatric cases; they had less prominent neuroimaging findings with lower frequencies of both T2/FLAIR hyperintensities (38%) and contrast enhancement (19%).ConclusionsThis systematic review and meta‐analysis provide high‐level evidence for clinical and imaging phenotypes of GFAP‐A, which will benefit the identification and clinical workup of suspected cases. Differential diagnostic cues to distinguish GFAP‐A from common clinical and imaging mimics are provided as well as suitable magnetic resonance imaging protocol recommendations.

show abstract

Autoimmune glial fibrillary acidic protein astrocytopathy: case report of a treatable cause of rapidly progressive dementia

Cited by 8 publications

References 9 publications

Case Report: Semantic Variant of Primary Progressive Aphasia Associated With Anti-Glial Fibrillary Acid Protein Autoantibodies

Case Report: Semantic Variant of Primary Progressive Aphasia Associated With Anti-Glial Fibrillary Acid Protein Autoantibodies

Repeated Brain Magnetic Resonance Imaging Provides Clues for the Diagnosis of Autoimmune Glial Fibrillary Acid Protein Astrocytopathy

Clinical and neuroimaging phenotypes of autoimmune glial fibrillary acidic protein astrocytopathy: A systematic review and meta‐analysis

Contact Info

Product

Resources

About