keyword
https://read.qxmd.com/read/38533672/interest-of-rare-autoantibodies-in-autoimmune-encephalitis-and-paraneoplastic-neurological-syndromes-the-utility-or-futility-of-rare-antibody-discovery
#1
JOURNAL ARTICLE
Yahel Segal, Anastasia Zekeridou
PURPOSE OF REVIEW: The increasing recognition and diagnosis of autoimmune encephalitis (AE) and paraneoplastic neurological syndromes (PNS) is partly due to neural autoantibody testing and discovery. The past two decades witnessed an exponential growth in the number of identified neural antibodies. This review aims to summarize recent rare antibody discoveries in the context of central nervous system (CNS) autoimmunity and evaluate the ongoing debate about their utility. RECENT FINDINGS: In the last 5 years alone 15 novel neural autoantibody specificities were identified...
March 27, 2024: Current Opinion in Neurology
https://read.qxmd.com/read/38531544/application-of-bedside-hints-abcd-2-score-and-truncal-ataxia-to-differentiate-cerebellar-brainstem-stroke-from-vestibular-neuritis-in-the-emergency-room
#2
JOURNAL ARTICLE
Xinmin Liu, Zhaoxia Li, Yi Ju, Xingquan Zhao
BACKGROUND AND PURPOSE: Acute vestibular syndrome (AVS) typically manifests as isolated dizziness or vertigo with no apparent neurological impairments. However, distinguishing life-threatening stroke from innocuous peripheral vestibular lesions in the emergency room (ER) remains challenging. This study aimed to explore the ability of the head impulse-nystagmus-test of skew (HINTS) combined with truncal ataxia or ABCD2 score to differentiate stroke from peripheral vestibular disease in patients with AVS in the ER...
March 25, 2024: Stroke and Vascular Neurology
https://read.qxmd.com/read/38531369/vamp1-related-congenital-myasthenic-syndrome-a-case-report-and-literature-review
#3
JOURNAL ARTICLE
Miraç Yıldırım, Gülçin Bilicen Yarenci, Mustafa Berk Genç, Çiğdem İlter Uçar, Secahattin Bayav, Merve Nur Tekin, Ömer Bektaş, Serap Teber
Congenital myasthenic syndrome-25 (CMS-25) is an autosomal recessive neuromuscular disorder caused by a homozygous mutation in VAMP1 gene. To date, only eight types of allelic variants in VAMP1 gene have been reported in 12 cases of CMS-25. Here, we report on an 8-year-old boy with motor developmental delay, axial hypotonia, myopathic face, muscle weakness, strabismus, ptosis, pectus carinatum, kyphoscoliosis, joint contractures, joint laxity, seizures, and recurrent nephrolithiasis. He also had feeding difficulties and recurrent aspiration pneumonia...
March 26, 2024: Neuropediatrics
https://read.qxmd.com/read/38525630/informal-gold-miners-with-mercury-toxicity-novel-asymmetrical-neurological-presentations
#4
JOURNAL ARTICLE
J George, E Sadiq, I Moola, S Maharaj, A Mochan
Mercury is a highly toxic heavy metal that may cause neurological, respiratory, gastrointestinal and dermatological illnesses. Previously described neurological manifestations of mercury toxicity are symmetrical, and include a pancerebellar syndrome, generalised seizures and encephalopathy. Mercury is used in the gold mining process, and in artisanal or illicit gold mining, often without necessary protection. Here we describe the cases of two artisanal gold miners from western Johannesburg, South Africa, who presented with atypical neurological manifestations of mercury toxicity...
December 4, 2023: South African Medical Journal
https://read.qxmd.com/read/38522785/benchtop-and-in-vitro-experiments-of-novel-transform-stents-for-trigeminal-neuralgia-treatment
#5
JOURNAL ARTICLE
Jinwoo Kim, Hanki Kim, Chan Hee Park, Joonho Chung
BACKGROUND: Trigeminal neuralgia (TN) is a debilitating condition characterized by sudden, excruciating facial pain due to neurovascular compression of the trigeminal nerve. Stent deployment can change the course of the superior cerebellar artery upwards, possibly releasing the root entry zone of the trigeminal nerve. We developed a novel stent, the Transform stent, for TN treatment, and evaluated its mechanical properties using benchtop and in vitro hemocompatibility tests. METHODS: We compared the performance of Transform and Enterprise stents in treating TN because they share similar self-expanding closed-cell features in the manufacturing process, are derived from nitinol tubes, and are fabricated through a laser-cutting process, but also because only the safety of Enterprise stents deployed in intracranial arteries has been reported clinically...
March 22, 2024: World Neurosurgery
https://read.qxmd.com/read/38522093/fanconi-anemia-neuroinflammatory-syndrome-fans-brain-lesions-and-neurologic-injury-in-fanconi-anemia
#6
JOURNAL ARTICLE
Allison L Bartlett, John E Wagner, Blaise V Jones, Susanne Wells, Anthony Sabulski, Christine Fuller, Stella M Davies
Fanconi anemia (FA) is a complex inherited bone marrow failure syndrome characterized by chromosomal instability and defective DNA repair causing sensitivity to DNA interstrand cross-linking agents. Our understanding of the full adult phenotype of the disease continues to evolve, as most patients with Fanconi Anemia died of marrow failure in the first decade of life prior to more recent advances in allogeneic hematopoietic cell transplantation. Herein, we report a previously undescribed, clinically concerning, progressive neurologic syndrome in patients with FA...
March 24, 2024: Blood Advances
https://read.qxmd.com/read/38515993/cerebrofacial-arteriovenous-metameric-syndrome-type-i%C3%A2-%C3%A2-ii%C3%A2-%C3%A2-iii-an-unusual-case
#7
Shahroze Ahmed, Digbijay Kunwar, Muhammad Hamza Khan, Anum Akbar, Asra Yasin, Abdul Sattar Anjum
Cerebrofacial arteriovenous Metameric syndrome (CAMS) typically manifests as types I, II, or III, occasionally presenting as dual types. Our unique case underscores the coexistence of all three CAMS types in one patient. Furthermore, the concurrent acute cerebellar infarct underscores the need to consider CAMS in the differential diagnosis of adolescents experiencing neurological events.
March 2024: Clinical Case Reports
https://read.qxmd.com/read/38514109/-neuroleptic-intolerance-and-residual-mutism-in-a-young-woman-with-anti-n-methyl-d-aspartate-receptor-nmdar-encephalitis
#8
JOURNAL ARTICLE
Kazue Tajima, Toshio Fukutake
We report a case of anti-NMDAR encephalitis and residual mutism in a 23-year-old woman who presented with neuroleptic intolerance. Admission to our department for investigation of her abnormal behavior revealed cerebrospinal fluid (CSF) positivity for anti-NMDAR antibodies, and the patient underwent immunotherapy. However, generalized tonic seizures developed, requiring mechanical ventilation in the intensive care unit. Antipsychotic drugs were also administered for involuntary movements and insomnia. Thereafter, a malignant syndrome of severe hyperCKemia (Max: 191,120 IU/L) and shock developed, requiring resuscitation and three sessions of hemodialysis...
March 2024: Brain and Nerve, Shinkei Kenkyū No Shinpo
https://read.qxmd.com/read/38513145/reduced-cerebral-blood-flow-and-cognitive-dysfunction-following-isolated-cerebellar-infarction-two-case-reports
#9
JOURNAL ARTICLE
Qi Liu, Yingkui Zhang, Chang Liu, Yu Chen, Yumei Zhang
Cognitive impairment in focal cerebellar disorders has been widely recognized and is described as cerebellar cognitive affective syndrome (CCAS). However, the relationship between CCAS and crossed cerebello-cerebral diaschisis (CCD) has rarely been discussed. The present report describes the uncommon phenomenon of CCD in two cases with isolated cerebellar infarction, and discuss its contribution to cognitive impairment. Cognitive performance was examined using the CCAS scale and a battery of neuropsychological assessments...
March 2024: Journal of International Medical Research
https://read.qxmd.com/read/38508733/-a-case-of-suspected-vertebral-artery-stump-syndrome-assessed-by-ct-angiography
#10
JOURNAL ARTICLE
Miharu Yanagida, Yasushi Hosoi, Tatsuhiro Kawano, Yusuke Otake, Hiramatsu Hisaya, Michiko Ito
A 55-year-old man developed ischemic stroke in the bilateral cerebellar hemispheres and bilateral occipital lobes. He was admitted to our hospital 17 months later with recurrent ischemic stroke in the posterior circulation. The left vertebral artery (VA) was occluded on brain magnetic resonance angiography but was visualized with a delay on continuous three-phase CT angiography (CTA). Conventional angiography confirmed a to-and-fro blood flow pattern at the distal end of the left VA, therefore the patient was diagnosed with VA stump syndrome (VASS)...
March 20, 2024: Rinshō Shinkeigaku, Clinical Neurology
https://read.qxmd.com/read/38507876/gaa-fgf14-disease-defining-its-frequency-molecular-basis-and-4-aminopyridine-response-in-a-large-downbeat-nystagmus-cohort
#11
JOURNAL ARTICLE
David Pellerin, Felix Heindl, Carlo Wilke, Matt C Danzi, Andreas Traschütz, Catherine Ashton, Marie-Josée Dicaire, Alexanne Cuillerier, Giulia Del Gobbo, Kym M Boycott, Jens Claassen, Dan Rujescu, Annette M Hartmann, Stephan Zuchner, Bernard Brais, Michael Strupp, Matthis Synofzik
BACKGROUND: GAA-FGF14 disease/spinocerebellar ataxia 27B is a recently described neurodegenerative disease caused by (GAA)≥250 expansions in the fibroblast growth factor 14 (FGF14) gene, but its phenotypic spectrum, pathogenic threshold, and evidence-based treatability remain to be established. We report on the frequency of FGF14 (GAA)≥250 and (GAA)200-249 expansions in a large cohort of patients with idiopathic downbeat nystagmus (DBN) and their response to 4-aminopyridine...
March 19, 2024: EBioMedicine
https://read.qxmd.com/read/38504418/cerebellar-phenotypes-in-germline-pten-mutation-carriers
#12
REVIEW
Donatella Gambini, Stefano Ferrero, Gaetano Bulfamante, Luigi Pisani, Massimo Corbo, Elisabetta Kuhn
PTEN hamartoma tumour syndrome (PHTS) comprises different hereditary conditions caused by germline PTEN mutations, predisposing to the development of multiple hamartomas in many body tissues and also increasing the risk of some types of cancer. Cerebellar involvement in PHTS patients has been long known due to the development of a pathognomonic cerebellar hamartoma (known as dysplastic gangliocytoma of the cerebellum or Lhermitte-Duclos disease). Recently, a crucial role of the cerebellum has been highlighted in the pathogenesis of autism spectrum disorders, now recognised as a phenotype expressed in a variable percentage of PHTS children...
April 2024: Neuropathology and Applied Neurobiology
https://read.qxmd.com/read/38502237/joubert-syndrome-derived-induced-pluripotent-stem-cells-show-altered-neuronal-differentiation-in-vitro
#13
JOURNAL ARTICLE
Roberta De Mori, Silvia Tardivo, Lidia Pollara, Silvia Clara Giliani, Eltahir Ali, Lucio Giordano, Vincenzo Leuzzi, Rita Fischetto, Blanca Gener, Santo Diprima, Marco J Morelli, Maria Cristina Monti, Virginie Sottile, Enza Maria Valente
Joubert syndrome (JS) is a recessively inherited congenital ataxia characterized by hypotonia, psychomotor delay, abnormal ocular movements, intellectual disability, and a peculiar cerebellar and brainstem malformation, the "molar tooth sign." Over 40 causative genes have been reported, all encoding for proteins implicated in the structure or functioning of the primary cilium, a subcellular organelle widely present in embryonic and adult tissues. In this paper, we developed an in vitro neuronal differentiation model using patient-derived induced pluripotent stem cells (iPSCs), to evaluate possible neurodevelopmental defects in JS...
March 19, 2024: Cell and Tissue Research
https://read.qxmd.com/read/38497171/stroke-without-cerebral-arteriopathy-in-sickle-cell-disease-children-causes-and-treatment
#14
JOURNAL ARTICLE
Sarah Liane Linguet, Suzanne Verlhac, Florence Missud, Laurent Holvoet-Vermaut, Valentine Brousse, Ghislaine Ithier, Alexandra Ntorkou, Emmanuelle Lesprit, Malika Benkerrou, Manoëlle Kossorotoff, Berengere Koehl
Cerebral arteriopathy (CA) in children with sickle cell disease (SCD) is classically described as chronic stenosis of arteries in the anterior brain circulation, leading to ischemic stroke. Some studies have however reported strokes in children with SCD but without CA. In order to better understand the etiology and risk factors of these strokes, we retrospectively analyzed ischemic strokes occurring in a large cohort of children over a 13 year-period. Between 2007 and 2020, 25/1500 children with SCD had an ischemic stroke in our center...
March 14, 2024: Haematologica
https://read.qxmd.com/read/38496203/opalski-syndrome-and-elucidation-of-lateral-medullary-syndrome
#15
Anthony T Joseph, Ava Toluie, Peter A Hrehorovich
In this case, a 61-year-old patient presented with Horner's syndrome of the left eye, left-sided truncal ataxia, left-sided pain/paresthesia of the face as well as right-sided loss of pain and temperature of the arms and legs. MRI findings displayed a clear 4 mm acute left lateral medullary infarct of the left posterior inferior cerebellar artery (PICA) vascular territory, indicative of lateral medullary syndrome (LMS). The presence of pre-existing medical conditions such as uncontrolled diabetes, late-stage syphilis, and a mechanical aortic valve complicated this clinical picture...
February 2024: Curēus
https://read.qxmd.com/read/38494299/overview-of-treatment-strategies-in-paraneoplastic-neurological-syndromes
#16
REVIEW
Jeroen Kerstens, Maarten J Titulaer
Treatment strategies in paraneoplastic neurological syndromes rely on the three pillars of tumor treatment, immunotherapy, and symptomatic treatment, the first one being by far the most important in the majority of patients and syndromes. Classically, antibodies against extracellular antigens are directly pathogenic, and patients with these syndromes are more responsive to immunomodulatory or immunosuppressive treatments than the ones with antibodies against intracellular targets. This chapter first discusses some general principles of tumor treatment and immunotherapy, followed by a closer look at specific treatment options for different clinical syndromes, focusing on symptomatic treatments...
2024: Handbook of Clinical Neurology
https://read.qxmd.com/read/38494297/epidemiology-of-paraneoplastic-neurologic-syndromes
#17
REVIEW
Robert Kadish, Stacey L Clardy
Paraneoplastic neurologic syndromes (PNS), initially depicted as seemingly cryptic remote manifestations of malignancy, were first described clinically in the early 20th century, with pathophysiologic correlates becoming better elucidated in the latter half of the century. There remain many questions not only about the pathophysiology but also regarding the epidemiology of these conditions. The continuous discovery of novel autoantigens and related neurologic disease has broadened the association in classical PNS to include conditions such as paraneoplastic cerebellar degeneration...
2024: Handbook of Clinical Neurology
https://read.qxmd.com/read/38494294/hematologic-malignancies-and-hematopoietic-stem-cell-transplantation
#18
REVIEW
Chiara Briani, Andrea Visentin
Paraneoplastic neurologic syndromes are rarely associated with hematologic malignancies. In their rarity, lymphomas are the diseases with more frequent paraneoplastic neurologic syndrome. High-risk antibodies are absent in most lymphoma-associated paraneoplastic neurologic syndromes, with the exception of antibodies to Tr/DNER in paraneoplastic cerebellar degeneration, mGluR5 in limbic encephalitis, and mGluR1 in some cerebellar ataxias. Peripheral nervous system paraneoplastic neurologic syndromes are rare and heterogeneous, with a prevalence of demyelinating polyradiculoneuropathy in non-Hodgkin lymphoma...
2024: Handbook of Clinical Neurology
https://read.qxmd.com/read/38494293/paraneoplastic-neurologic-syndrome-associated-with-gynecologic-and-breast-malignancies
#19
REVIEW
Elise Peter, Jérôme Honnorat, Virginie Desestret
Gynecologic and breast malignancies are the cancers most commonly associated with paraneoplastic neurologic syndromes, of which the foremost is Yo [Purkinje cell antibody, type 1 (PCA-1)] paraneoplastic cerebellar degeneration. Yo syndrome affects women in the sixth decade and manifests as a subacute severe cerebellar ataxia. The association of the typical clinical picture with the detection of Yo antibodies in a patient's serum or CSF defines the diagnosis. Yo syndrome is always associated with a cancer, and the search for the underlying tumor should focus on ovarian and breast cancers and be repeated overtime if negative...
2024: Handbook of Clinical Neurology
https://read.qxmd.com/read/38494288/paraneoplastic-antibodies-targeting-intracellular-antigens
#20
REVIEW
Jenny J Linnoila
Although they are relatively rare, the diagnosis of paraneoplastic neurologic syndromes (PNS) can be aided by the identification of neural autoantibodies in patients' serum and cerebrospinal fluid (CSF). They often clinically manifest as characteristic syndromes, including limbic encephalitis, opsoclonus-myoclonus syndrome, paraneoplastic cerebellar degeneration, and paraneoplastic encephalomyelitis. The antibodies are directed either toward intracellular targets, or epitopes on the cell surface. As compared to cell surface antibodies, intracellular paraneoplastic autoantibodies are more classically associated with cancer, most often lung, breast, thymoma, gynecologic, testicular, and/or neuroendocrine cancers...
2024: Handbook of Clinical Neurology
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