Clinical and immunological characteristics of the spectrum of GFAP autoimmunity: a case series of 22 patients

2017 ◽  
Vol 89 (2) ◽  
pp. 138-146 ◽  
Author(s):  
Raffaele Iorio ◽  
Valentina Damato ◽  
Amelia Evoli ◽  
Marco Gessi ◽  
Simona Gaudino ◽  
...  
Keyword(s):  
Cerebellar Ataxia ◽  
Cd8 T Cells ◽  
Biopsy Specimen ◽  
Case Series ◽  
Catholic University ◽  
Systemic Autoimmunity ◽  
Neurological Presentation ◽  
Mononuclear Infiltrate ◽  
University Of Rome ◽  
Glial Fibrillar Acidic Protein

ObjectiveTo report the clinical and immunological characteristics of 22 new patients with glial fibrillar acidic protein (GFAP) autoantibodies.MethodsFrom January 2012 to March 2017, we recruited 451 patients with suspected neurological autoimmune disease at the Catholic University of Rome. Patients’ serum and cerebrospinal fluid (CSF) samples were tested for neural autoantibodies by immunohistochemistry on mouse and rat brain sections, by cell-based assays (CBA) and immunoblot. GFAP autoantibodies were detected by immunohistochemistry and their specificity confirmed by CBA using cells expressing human GFAPα and GFAPδ proteins, by immunoblot and immunohistochemistry on GFAP-/- mouse brain sections.ResultsSerum and/or CSF IgG of 22/451 (5%) patients bound to human GFAP, of which 22/22 bound to GFAPα, 14/22 to both GFAPα and GFAPδ and none to the GFAPδ isoform only. The neurological presentation was: meningoencephalomyelitis or encephalitis in 10, movement disorder (choreoathetosis or myoclonus) in 3, anti-epileptic drugs (AED)-resistant epilepsy in 3, cerebellar ataxia in 3, myelitis in 2, optic neuritis in 1 patient. Coexisting neural autoantibodies were detected in five patients. Six patients had other autoimmune diseases. Tumours were found in 3/22 patients (breast carcinoma, 1; ovarian carcinoma, 1; thymoma, 1). Nineteen patients were treated with immunotherapy and 16 patients (84%) improved. Histopathology analysis of the leptomeningeal biopsy specimen from one patient revealed a mononuclear infiltrate with macrophages and CD8+ T cells.ConclusionsGFAP autoimmunity is not rare. The clinical spectrum encompasses meningoencephalitis, myelitis, movement disorders, epilepsy and cerebellar ataxia. Coexisting neurological and systemic autoimmunity are relatively common. Immunotherapy is beneficial in most cases.

scholarly journals ZUNR (WEST UKRAINIAN PEOPLE'S REPUBLIC) IN ENCYCLOPAEDIC EDITIONS

2019 ◽  
Vol 32 ◽  
pp. 238-246
Author(s):  
Stepan BORCHUK ◽  
Maryana ZASYPKO
Keyword(s):  
State Policy ◽  
Scientific Work ◽  
The State ◽  
Point Of View ◽  
Catholic University ◽  
History Of ◽  
Important Field ◽  
Democratic Revolution ◽  
The Subject ◽  
University Of Rome

The encyclopedic editions that cover the topic of ZUNR are analyzed in this article. The main focus is on the Soviet encyclopedic editions "Ukrainian Soviet Encyclopedia" and "Soviet Encyclopedia of the History of Ukraine" in which the authors covered the history of ZUNR under the crushing Soviet propaganda way. These articles describe the position of the Soviet authorities regarding the history of the ZUNR and the independence of Ukraine. Historical aspects of statehood are revealed, but as destructive and crushing for the Soviet apparatus. The unilateral nature of these articles was characterized as they covered ZUNR policy from a subjective point of view. The tendency of repetition of encyclopedic texts on ZUNR that passed from one Soviet edition to another is revealed. Changes in the emphasis on the study of the history of ZUNR with the restoration of Ukraine's independence have been observed. Significant attention is focused on modern encyclopedic projects, which cover the history of ZUNR and have become a kind of quintessence and business card of all previous scientific work on the subject of ZUNR. Examples in changing the emphasis in ZUNR research by modern researchers are given. The basic conceptual bases of national historiography concerning the history of ZUNR are formulated. In the article, the author emphasizes the position of changing the assessment of the state policy of ZUNR officials to the state policy. Domestic researchers in new encyclopedic editions re-submit ZUNR history and most of the stigmatized spots have been cleaned up and fairly introduced into national encyclopedic editions. The article emphasizes the need to develop new archival data that will become available in the archives of the Catholic University of Rome. Declassification of these materials will make it possible to review articles in encyclopedic editions of already independent Ukraine. Make their own adjustments and add to existing present historical material. The author emphasizes that encyclopedic science is an important field of historical disciplines, because it covers a large amount of material in an accessible abbreviated form. Key words: Western Ukrainian People's Republic 1918–1919, national democratic revolution, «Ukrainian Soviet Encyclopedia», «Soviet Encyclopedia of History of Ukraine», «Encyclopedia of History of Ukraine», «Western Ukrainian People's Republic 1918–1923. Encyclopedia», Ukrainian Galician Army.

scholarly journals Rare neurological presentations of Dengue Fever

2021 ◽  
Vol 18 (1) ◽  
pp. 66-69
Author(s):  
Navgeet Mathur ◽  
Medha Mathur
Keyword(s):  
Dengue Fever ◽  
Treatment Modality ◽  
Nerve Palsy ◽  
Case Series ◽  
Abducens Nerve ◽  
Neurological Manifestations ◽  
Neurological Presentation ◽  
Neurological Features ◽  
Bilateral Abducens

In presence of abnormal neurological features infective, immunological and metabolic etiologies are also needed to be kept as possibility. Dengue fever may present with variety of neurological manifestations. This case series includes rare neurological presentation of dengue fever including first ever reported case of dengue fever induced bilateral abducens nerve palsy with another case of dengue cerebellitis. This case series along with previous studies suggest that imaging may be normal in these cases. This case series also highlighted the possible immunological etio-pathogenesis and role of steroids as treatment modality.

scholarly journals Expanding Phenotype of ATP1A3 - Related Disorders: A Case Series

2021 ◽  
Vol 8 ◽  
pp. 2329048X2110480
Author(s):  
Jelena De Vrieze ◽  
Ingrid M.B.H. van de Laar ◽  
Johanneke F. de Rijk-van Andel ◽  
Erik-Jan Kamsteeg ◽  
Irene A.W. Kotsopoulos ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Cerebellar Ataxia ◽  
De Novo ◽  
Early Stage ◽  
Case Series ◽  
Rapid Onset ◽  
Sudden Onset ◽  
Intermediate Phenotype ◽  
Alternating Hemiplegia Of Childhood ◽  
Neurologic Disorders

Neurologic disorders caused by mutations in the ATP1A3 gene were originally reported as three distinct rare clinical syndromes: Alternating Hemiplegia of Childhood (AHC), Rapid-onset Dystonia Parkinsonism (RDP) and Cerebellar ataxia, Areflexia, Pes cavus, Opticus atrophy and Sensorineural hearing loss (CAPOS). In this case series, we describe 3 patients. A mother and her daughter showed an intermediate phenotype different from each other with the same heterozygous missense mutation (p.[R756C]), recently described in literature as Relapsing Encephalopathy With Cerebellar Ataxia (RECA). In addition, a third patient showed an intermediate AHC-RDP phenotype and had a likely pathogenic novel de novo missense mutation (p.[L100 V]). These patients support the growing evidence that AHC, RDP and RECA are part of a continuous ATP1A3 mutation spectrum that is still expanding. Three common features were a sudden onset, asymmetrical neurological symptoms, as well as the presence of triggering factors. When present, the authors argue to perform exome sequencing in an early stage.

scholarly journals PS1 - 181 Dural Metastases from Breast Cancer: A Case Series

2016 ◽  
Vol 43 (S4) ◽  
pp. S7-S7
Author(s):  
D.R. MacDonald ◽  
J.F. Megyesi ◽  
K.R. Potvin
Keyword(s):  
Breast Cancer ◽  
Triple Negative ◽  
Case Series ◽  
Cranial Radiotherapy ◽  
Disease Treatment ◽  
Presenting Symptoms ◽  
Intracranial Metastases ◽  
Neurological Presentation ◽  
Her 2 ◽  
Dural Metastases

Intracranial metastases from solid tumors are increasingly common, often brain or leptomeningeal metastases. Dural metastases are under-reported, present diagnostic and therapeutic challenges, and may mimic subdural hematoma or meningioma. This report describes 4 recent patients with dural metastases from breast cancer. A 60 year old woman, without known cancer, had 5 months of increasing headaches, left weakness, and focal seizures. Imaging showed an enlarging right frontal extra-axial enhancing mass with edema, initially thought to be a meningioma. At surgery the tumor involved overlying bone, replaced the dura, and invaded brain. Pathology was metastatic adenocarcinoma, ER/PR positive and Her-2 negative. Investigations showed a right breast primary, and lung and bone metastases. She received cranial radiotherapy (RT), letrozole and pamidronate. The tumor remains controlled after 40 months. The 3 other patients all had prior known breast cancer, 2 ER/PR positive and Her-2 negative, and 1 triple negative, ages 45-70 years. Two had known systemic metastases prior to neurological presentation. Presenting symptoms included headache, seizures, focal weakness, and confusion. All had new or progressive systemic metastases, including bone, at diagnosis of dural metastases. Two had resection of dural metastases, 1 with complicated postoperative course, with eventual improvement in both. Two received cranial RT, 1 refused RT, and all received hormonal or chemotherapy, with ongoing clinical or MRI control. These cases illustrate the complexity of dural metastases. Although patients often have extensive metastatic disease, treatment can improve symptoms and prolong survival.

scholarly journals Erratum to “Effect of Long-Term Climbing Training on Cerebellar Ataxia: A Case Series”

2014 ◽  
Vol 2014 ◽  
pp. 1-1
Author(s):  
Marianne Anke Stephan ◽  
Sylvie Krattinger ◽  
Jérôme Pasquier ◽  
Shahid Bashir ◽  
Thomas Fournier ◽  
...  
Keyword(s):  
Cerebellar Ataxia ◽  
Case Series

scholarly journals Recognition and management of rapid-onset gluten ataxias: case series

2021 ◽  
Vol 8 (1) ◽  
Author(s):  
Laurence Newrick ◽  
Nigel Hoggard ◽  
Marios Hadjivassiliou
Keyword(s):  
Cerebellar Ataxia ◽  
Case Series ◽  
Rapid Onset ◽  
Rapid Progression ◽  
Gluten Sensitivity ◽  
Gluten Ataxia ◽  
Early Access ◽  
Immune Mediated ◽  
Cerebellar Ataxias ◽  
Case Presentations

Abstract Background Most immune-mediated cerebellar ataxias, including those associated with gluten sensitivity (Gluten Ataxia), tend to present subacutely and usually progress gradually. Acute presentations with rapid progression outside the context of paraneoplastic cerebellar degeneration require prompt diagnosis and early access to disease-modifying immunotherapy in order to avert severe and permanent neurological disability. Case presentations We describe three cases of rapid-onset Gluten Ataxia, an immune-mediated cerebellar ataxia due to gluten sensitivity. We detail their presentation, clinical and neuroimaging findings, and our treatment strategy with immunotherapy. Conclusions Our cases highlight the potential for immune-mediated cerebellar ataxias to present acutely, with rapid-onset symptoms and devastating neurological consequences. We caution against the diagnosis of ‘post-infective cerebellitis’ in adults, and advocate early consideration of an immune-mediated cerebellar ataxia and initiation of immunotherapy to prevent irreversible cerebellar damage.

scholarly journals Progressive Supranuclear Gaze Palsy with Predominant Cerebellar Ataxia: A Case Series with Videos

2017 ◽  
Vol 10 (2) ◽  
pp. 87-91 ◽  
Author(s):  
Zheyu Xu ◽  
Tchoyoson C.C. Lim ◽  
Wing Lok Au ◽  
Louis C.S. Tan
Keyword(s):  
Cerebellar Ataxia ◽  
Case Series ◽  
Gaze Palsy

scholarly journals LDL Receptor-Related Protein 2 (Megalin) as a Target Antigen in Human Kidney Anti-Brush Border Antibody Disease

2017 ◽  
Vol 29 (2) ◽  
pp. 644-653 ◽  
Author(s):  
Christopher P. Larsen ◽  
Claire Trivin-Avillach ◽  
Paige Coles ◽  
A. Bernard Collins ◽  
Michael Merchant ◽  
...  
Keyword(s):  
Proximal Tubule ◽  
Brush Border ◽  
Biopsy Specimen ◽  
Ldl Receptor ◽  
Case Series ◽  
Human Kidney ◽  
Target Antigen ◽  
Related Protein ◽  
Western Blots ◽  
Immune Deposits

Primary renal tubulointerstitial disease resulting from proximal tubule antigen–specific antibodies and immune complex formation has not been well characterized in humans. We report a cohort of patients with a distinct, underappreciated kidney disease characterized by kidney antibrush border antibodies and renal failure (ABBA disease). We identified ten patients with ABBA disease who had a combination of proximal tubule damage, IgG-positive immune deposits in the tubular basement membrane, and circulating antibodies reactive with normal human kidney proximal tubular brush border. All but one of the patients also had segmental glomerular deposits on renal biopsy specimen. Patients with ABBA disease were elderly and presented with AKI and subnephrotic proteinuria. Serum from all patients but not controls recognized a high molecular weight protein in renal tubular protein extracts that we identified as LDL receptor-related protein 2 (LRP2), also known as megalin, by immunoprecipitation and mass spectrometry. Immunostaining revealed that LRP2 specifically colocalized with IgG in the tubular immune deposits on the ABBA biopsy specimen but not the control specimen analyzed. Finally, ABBA serum samples but not control samples showed reactivity against recombinantly expressed N-terminal LRP2 fragments on Western blots and immunoprecipitated the recombinantly expressed N-terminal region of LRP2. This case series details the clinicopathologic findings of patients with ABBA disease and shows that the antigenic target of these autoantibodies is LRP2. Future studies are needed to determine the disease prevalence, stimulus for ABBA, and optimal treatment.

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