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Journal of Clinical Neurology (Seoul,... Sep 2023
PubMed: 37635426
DOI: 10.3988/jcn.2022.0477 -
Journal of Neurology Dec 2023Susac syndrome is a likely autoimmune microangiopathy affecting the brain, retina and inner ear. Due to the rarity of this condition, diagnosis and treatment can be...
Susac syndrome is a likely autoimmune microangiopathy affecting the brain, retina and inner ear. Due to the rarity of this condition, diagnosis and treatment can be challenging. Diagnosis is based on the presence of the clinical triad of central nervous system dysfunction, branch retinal artery occlusions and sensorineural hearing loss. Typical MRI findings of callosal and peri-callosal lesions may assist in diagnosis. Clinical course can be monophasic, polycyclic or chronic continuous. It is important to look out for red flags to attain an accurate diagnosis and follow a therapeutic algorithm based on severity of the disease and response to treatment. Patients are treated with steroids and immunosuppressive agents with a variable response. Early aggressive treatment especially in severe cases, may help in preventing relapses and morbidity/disability. This study highlights important diagnostic features and proposes a treatment algorithm based on clinical experience from management of 16 patients from 2 neuroscience centres in the UK since 2007, who were followed up over a long period of 3-15 years.
Topics: Humans; Susac Syndrome; Follow-Up Studies; Brain; Retinal Artery Occlusion; Magnetic Resonance Imaging
PubMed: 37608221
DOI: 10.1007/s00415-023-11891-z -
Frontiers in Immunology 2023CD8+ lymphocytes are adaptive immunity cells with the particular function to directly kill the target cell following antigen recognition in the context of MHC class I.... (Review)
Review
CD8+ lymphocytes are adaptive immunity cells with the particular function to directly kill the target cell following antigen recognition in the context of MHC class I. In addition, CD8+ T cells may release pro-inflammatory cytokines, such as tumor necrosis factor-α (TNF-α) and interferon-γ (IFN-γ), and a plethora of other cytokines and chemoattractants modulating immune and inflammatory responses. A role for CD8+ T cells has been suggested in aging and several diseases of the central nervous system (CNS), including Alzheimer's disease, Parkinson's disease, multiple sclerosis, amyotrophic lateral sclerosis, limbic encephalitis-induced temporal lobe epilepsy and Susac syndrome. Here we discuss the phenotypic and functional alterations of CD8+ T cell compartment during these conditions, highlighting similarities and differences between CNS disorders. Particularly, we describe the pathological changes in CD8+ T cell memory phenotypes emphasizing the role of senescence and exhaustion in promoting neuroinflammation and neurodegeneration. We also discuss the relevance of trafficking molecules such as selectins, mucins and integrins controlling the extravasation of CD8+ T cells into the CNS and promoting disease development. Finally, we discuss how CD8+ T cells may induce CNS tissue damage leading to neurodegeneration and suggest that targeting detrimental CD8+ T cells functions may have therapeutic effect in CNS disorders.
Topics: Humans; CD8-Positive T-Lymphocytes; Cytokines; Central Nervous System; Amyotrophic Lateral Sclerosis
PubMed: 37575227
DOI: 10.3389/fimmu.2023.1233870 -
Radiographics : a Review Publication of... Aug 2023Meningeal lesions can be caused by various conditions and pose diagnostic challenges. The authors review the anatomy of the meninges in the brain and spinal cord to...
Meningeal lesions can be caused by various conditions and pose diagnostic challenges. The authors review the anatomy of the meninges in the brain and spinal cord to provide a better understanding of the localization and extension of these diseases and summarize the clinical and imaging features of various conditions that cause dural and/or leptomeningeal enhancing lesions. These conditions include infectious meningitis (bacterial, tuberculous, viral, and fungal), autoimmune diseases (vasculitis, connective tissue diseases, autoimmune meningoencephalitis, Vogt-Koyanagi-Harada disease, neuro-Behçet syndrome, Susac syndrome, and sarcoidosis), primary and secondary tumors (meningioma, diffuse leptomeningeal glioneuronal tumor, melanocytic tumors, and lymphoma), tumorlike diseases (histiocytosis and immunoglobulin G4-related diseases), medication-induced diseases (immune-related adverse effects and posterior reversible encephalopathy syndrome), and other conditions (spontaneous intracranial hypotension, amyloidosis, and moyamoya disease). Although meningeal lesions may manifest with nonspecific imaging findings, correct diagnosis is important because the treatment strategy varies among these diseases. RSNA, 2023 and Quiz questions for this article are available through the Online Learning Center.
Topics: Humans; Posterior Leukoencephalopathy Syndrome; Meninges; Meningitis; Neuroimaging; Sarcoidosis; Meningeal Neoplasms; Magnetic Resonance Imaging
PubMed: 37535461
DOI: 10.1148/rg.230039 -
Clinical Neurology and Neurosurgery Oct 2023Susac syndrome is a rare autoimmune endotheliopathy involving the brain, retina, and inner ear. Olfactory dysfunction is a common early manifestation of several central...
OBJECTIVES
Susac syndrome is a rare autoimmune endotheliopathy involving the brain, retina, and inner ear. Olfactory dysfunction is a common early manifestation of several central nervous system diseases, including neurodegenerative diseases and autoimmune-mediated diseases such as Multiple Sclerosis. While the literature is abundant about the Susac syndrome classic triad of encephalopathy, branch retinal artery occlusion, and low-frequency sensorineural hearing loss, little is known about the extent of olfactory sense involvement.
METHODS
Using the Sniffin' Sticks test, this study evaluated olfactory function (identification and threshold) in ten recovering Susac syndrome patients under our clinic surveillance with a median of 3.1 (SD=1.53) years post-disease onset.
RESULTS
olfactory assessment by threshold and odor identification were within the normal range. No differences between recovering Susac syndrome patients to standard norms of odor identification and threshold were found.
CONCLUSIONS
Our findings do not support olfactory dysfunction in Susac syndrome and thereby, do not support olfactory assessment as a reliable biomarker for this condition.
PubMed: 37524045
DOI: 10.1016/j.clineuro.2023.107909 -
European Journal of Neurology Oct 2023
Topics: Humans; Susac Syndrome; Magnetic Resonance Imaging; Biomarkers; Glial Fibrillary Acidic Protein
PubMed: 37435928
DOI: 10.1111/ene.15984 -
European Journal of Neurology Oct 2023Serum levels of neurofilament light chain (sNfL) and glial fibrillary acidic protein (sGFAP) are promising neuro-axonal damage and astrocytic activation biomarkers....
BACKGROUND AND PURPOSE
Serum levels of neurofilament light chain (sNfL) and glial fibrillary acidic protein (sGFAP) are promising neuro-axonal damage and astrocytic activation biomarkers. Susac syndrome (SS) is an increasingly recognized neurological condition and biomarkers that can help assess and monitor disease evolution are highly needed for the adequate management of these patients. sNfL and sGFAP levels were evaluated in patients with SS and their clinical relevance in the relapse and remission phase of the disease was assessed.
METHODS
As part of a multicentre study that enrolled patients diagnosed with SS from six international centres, sNfL and sGFAP levels were assessed in 22 SS patients (nine during a relapse and 13 in remission) and 59 age- and sex-matched healthy controls using SimoaTM assay Neurology 2-Plex B Kit.
RESULTS
Serum NfL levels were higher than those of healthy controls (p < 0.001) in SS patients and in both subgroups of patients in relapse and in remission (p < 0.001 for both), with significantly higher levels in relapse than in remission (p = 0.008). sNfL levels showed a negative correlation with time from the last relapse (r = -0.663; p = 0.001). sGFAP levels were slightly higher in the whole group of patients than in healthy controls (p = 0.046) and were more pronounced in relapse than in remission (p = 0.013).
CONCLUSION
In SS patients, both sNFL and sGFAP levels increased compared with healthy controls. Both biomarkers had higher levels during clinical relapse and much lower levels in remission. sNFL was shown to be time sensitive to clinical changes and can be useful to monitor neuro-axonal damage in SS.
Topics: Humans; Biomarkers; Glial Fibrillary Acidic Protein; Intermediate Filaments; Multiple Sclerosis; Neurofilament Proteins; Recurrence; Susac Syndrome
PubMed: 37335505
DOI: 10.1111/ene.15939 -
Cureus Apr 2023Susac syndrome (SS) is an autoimmune microangiopathy that affects the brain, retina, and inner ear, causing a wide range of clinical manifestations. The triad of...
Susac syndrome (SS) is an autoimmune microangiopathy that affects the brain, retina, and inner ear, causing a wide range of clinical manifestations. The triad of encephalopathy, visual disturbances, and hearing loss constitute the classic disease presentation. We describe an original clinical case of a young male with a definitive diagnosis of SS, who presented with disordered behavior and amnesia, initially manifested as a dissociative or anxiety disorder but with a fulminant evolution toward severe encephalopathy associated with retinal infarcts and sensorineural hearing loss. After the diagnosis of SS, aggressive immunosuppressive treatment was started with significant neurological improvement and favorable evolution during the follow-up period. SS is a rare but potentially devastating disease that can cause great disability if not properly diagnosed and treated. The onset of SS with behavioral or psychiatric manifestation can be misleading, causing a diagnostic delay.
PubMed: 37252530
DOI: 10.7759/cureus.38089 -
Current Neurology and Neuroscience... Jun 2023Uncommon causes of stroke merit specific attention; when clinicians have less common etiologies of stoke in mind, the diagnosis may come more easily. This is key, as... (Review)
Review
PURPOSE OF REVIEW
Uncommon causes of stroke merit specific attention; when clinicians have less common etiologies of stoke in mind, the diagnosis may come more easily. This is key, as optimal management will in many cases differs significantly from "standard" care.
RECENT FINDINGS
Randomized controlled trials (RCT) on the best medical therapy in the treatment of cervical artery dissection (CeAD) have demonstrated low rates of ischemia with both antiplatelet and vitamin K antagonism. RCT evidence supports the use of anticoagulation with vitamin K antagonism in "high-risk" patients with antiphospholipid antibody syndrome (APLAS), and there is new evidence supporting the utilization of direct oral anticoagulation in malignancy-associated thrombosis. Migraine with aura has been more conclusively linked not only with increased risk of ischemic and hemorrhagic stroke, but also with cardiovascular mortality. Recent literature has surprisingly not provided support the utilization of L-arginine in the treatment of patients with mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS); however, there is evidence at this time that support use of enzyme replacement in patients with Fabry disease. Additional triggers for reversible cerebral vasoconstriction syndrome (RCVS) have been identified, such as capsaicin. Imaging of cerebral blood vessel walls utilizing contrast-enhanced MRA is an emerging modality that may ultimately prove to be very useful in the evaluation of patients with uncommon causes of stroke. A plethora of associations between cerebrovascular disease and COVID-19 have been described. Where pertinent, authors provide additional tips and guidance. Less commonly encountered conditions with updates in diagnosis, and management along with clinical tips are reviewed.
Topics: Humans; COVID-19; Stroke; Migraine Disorders; Anticoagulants; Fibrinolytic Agents; Vitamin K
PubMed: 37247169
DOI: 10.1007/s11910-023-01269-z -
Clinical Psychopharmacology and... May 2023SARS-CoV-2 vaccines are not free of side effects and most commonly affect the central or peripheral nervous system (CNS, PNS). This narrative review aims to summarise... (Review)
Review
SARS-CoV-2 vaccines are not free of side effects and most commonly affect the central or peripheral nervous system (CNS, PNS). This narrative review aims to summarise recent advances in the nature, frequency, management, and outcome of neurological side effects from SARS-CoV-2 vaccines. CNS disorders triggered by SARS-CoV-2 vaccines include headache, cerebro-vascular disorders (venous sinus thrombosis [VST], ischemic stroke, intracerebral hemorrhage, subarachnoid bleeding, reversible, cerebral vasoconstriction syndrome, vasculitis, pituitary apoplexy, Susac syndrome), inflammatory diseases (encephalitis, meningitis, demyelinating disorders, transverse myelitis), epilepsy, and a number of other rarely reported CNS conditions. PNS disorders related to SARS-CoV-2 vaccines include neuropathy of cranial nerves, mono-/polyradiculitis (Guillain-Barre syndrome [GBS]), Parsonage-Turner syndrome (plexitis), small fiber neuropathy, myasthenia, myositis/dermatomyositis, rhabdomyolysis, and a number of other conditions. The most common neurological side effects are facial palsy, intracerebral hemorrhage, VST, and GBS. The underlying pathophysiology is poorly understood, but several speculations have been generated to explain the development of CNS/PNS disease after SARS-CoV-2 vaccination. In conclusion, neurological side effects develop with any type of SARS-CoV-2 vaccine and are diverse, can be serious and even fatal, and should be taken seriously to initiate early treatment and improve outcome and avoid fatalities.
PubMed: 37119215
DOI: 10.9758/cpn.2023.21.2.222