Antanas Vaitkus, J. Čiauškaitė, M. Malakauskaitė, M. Baublytė
Myasthenia gravis is an autoimmune disease in which autoantibodies against the postsynaptic membrane proteins of the neuromuscular junction disrupt impulse transmission thus causing pathological muscle weakness and fatigue that worsens throughout the day. Although the disease is not yet curable, most patients can achieve complete symptom control and improved quality of life with appropriate treatment. Four treatment strategies are used in clinical practice: symptomatic, immunosuppressive, immunomodulatory, and surgical treatment, which can help control the disease but are not equally effective for all patients. Symptomatic treatment with acetylcholinesterase (AChE) inhibitors is often not effective enough, so additional treatment with immunosuppressants is indicated. These are effective, but can cause systemic side effects if taken for long periods. Even polytherapy is often not sufficient enough to treat patients with myasthenia gravis. The challenges of treating this disease are encouraging to seek alternatives. Increasing attention is being paid to antibodies against acetylcholine receptors (AChRs) and other structures of the neuromuscular junction that are important in pathogenesis of myasthenia gravis. Drugs are being developed that target specific links in the immune system to reduce the risk of systemic adverse effects. Currently, only two drugs are approved for the treatment of generalized myasthenia gravis – eculizumab and efgartigimod. Both of them are safe and effective in treating generalized myasthenia gravis with prevalent anti-AChR antibodies. Currently, 10 other drugs are clinically tested for their safety and efficacy in treating patients with myasthenia gravis. In this article, we review publications that analyze biological therapy and its novelty in the treatment of myasthenia gravis. We focus more on already approved biological drugs.
{"title":"New treatment options for generalized myasthenia gravis","authors":"Antanas Vaitkus, J. Čiauškaitė, M. Malakauskaitė, M. Baublytė","doi":"10.29014/ns.2023.27.9","DOIUrl":"https://doi.org/10.29014/ns.2023.27.9","url":null,"abstract":"Myasthenia gravis is an autoimmune disease in which autoantibodies against the postsynaptic membrane proteins of the neuromuscular junction disrupt impulse transmission thus causing pathological muscle weakness and fatigue that worsens throughout the day. Although the disease is not yet curable, most patients can achieve complete symptom control and improved quality of life with appropriate treatment. Four treatment strategies are used in clinical practice: symptomatic, immunosuppressive, immunomodulatory, and surgical treatment, which can help control the disease but are not equally effective for all patients. Symptomatic treatment with acetylcholinesterase (AChE) inhibitors is often not effective enough, so additional treatment with immunosuppressants is indicated. These are effective, but can cause systemic side effects if taken for long periods. Even polytherapy is often not sufficient enough to treat patients with myasthenia gravis. The challenges of treating this disease are encouraging to seek alternatives. Increasing attention is being paid to antibodies against acetylcholine receptors (AChRs) and other structures of the neuromuscular junction that are important in pathogenesis of myasthenia gravis. Drugs are being developed that target specific links in the immune system to reduce the risk of systemic adverse effects. Currently, only two drugs are approved for the treatment of generalized myasthenia gravis – eculizumab and efgartigimod. Both of them are safe and effective in treating generalized myasthenia gravis with prevalent anti-AChR antibodies. Currently, 10 other drugs are clinically tested for their safety and efficacy in treating patients with myasthenia gravis. In this article, we review publications that analyze biological therapy and its novelty in the treatment of myasthenia gravis. We focus more on already approved biological drugs.","PeriodicalId":479531,"journal":{"name":"Neurologijos seminarai","volume":"27 6","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139780086","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Antanas Vaitkus, J. Čiauškaitė, M. Malakauskaitė, M. Baublytė
Myasthenia gravis is an autoimmune disease in which autoantibodies against the postsynaptic membrane proteins of the neuromuscular junction disrupt impulse transmission thus causing pathological muscle weakness and fatigue that worsens throughout the day. Although the disease is not yet curable, most patients can achieve complete symptom control and improved quality of life with appropriate treatment. Four treatment strategies are used in clinical practice: symptomatic, immunosuppressive, immunomodulatory, and surgical treatment, which can help control the disease but are not equally effective for all patients. Symptomatic treatment with acetylcholinesterase (AChE) inhibitors is often not effective enough, so additional treatment with immunosuppressants is indicated. These are effective, but can cause systemic side effects if taken for long periods. Even polytherapy is often not sufficient enough to treat patients with myasthenia gravis. The challenges of treating this disease are encouraging to seek alternatives. Increasing attention is being paid to antibodies against acetylcholine receptors (AChRs) and other structures of the neuromuscular junction that are important in pathogenesis of myasthenia gravis. Drugs are being developed that target specific links in the immune system to reduce the risk of systemic adverse effects. Currently, only two drugs are approved for the treatment of generalized myasthenia gravis – eculizumab and efgartigimod. Both of them are safe and effective in treating generalized myasthenia gravis with prevalent anti-AChR antibodies. Currently, 10 other drugs are clinically tested for their safety and efficacy in treating patients with myasthenia gravis. In this article, we review publications that analyze biological therapy and its novelty in the treatment of myasthenia gravis. We focus more on already approved biological drugs.
{"title":"New treatment options for generalized myasthenia gravis","authors":"Antanas Vaitkus, J. Čiauškaitė, M. Malakauskaitė, M. Baublytė","doi":"10.29014/ns.2023.27.9","DOIUrl":"https://doi.org/10.29014/ns.2023.27.9","url":null,"abstract":"Myasthenia gravis is an autoimmune disease in which autoantibodies against the postsynaptic membrane proteins of the neuromuscular junction disrupt impulse transmission thus causing pathological muscle weakness and fatigue that worsens throughout the day. Although the disease is not yet curable, most patients can achieve complete symptom control and improved quality of life with appropriate treatment. Four treatment strategies are used in clinical practice: symptomatic, immunosuppressive, immunomodulatory, and surgical treatment, which can help control the disease but are not equally effective for all patients. Symptomatic treatment with acetylcholinesterase (AChE) inhibitors is often not effective enough, so additional treatment with immunosuppressants is indicated. These are effective, but can cause systemic side effects if taken for long periods. Even polytherapy is often not sufficient enough to treat patients with myasthenia gravis. The challenges of treating this disease are encouraging to seek alternatives. Increasing attention is being paid to antibodies against acetylcholine receptors (AChRs) and other structures of the neuromuscular junction that are important in pathogenesis of myasthenia gravis. Drugs are being developed that target specific links in the immune system to reduce the risk of systemic adverse effects. Currently, only two drugs are approved for the treatment of generalized myasthenia gravis – eculizumab and efgartigimod. Both of them are safe and effective in treating generalized myasthenia gravis with prevalent anti-AChR antibodies. Currently, 10 other drugs are clinically tested for their safety and efficacy in treating patients with myasthenia gravis. In this article, we review publications that analyze biological therapy and its novelty in the treatment of myasthenia gravis. We focus more on already approved biological drugs.","PeriodicalId":479531,"journal":{"name":"Neurologijos seminarai","volume":"126 3","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139839920","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Abdominal epilepsy (AE) is an extremely rare condition, classified as temporal lobe epilepsy, and is usually a diagnosis of exclusion. Temporal lobe epilepsy often has no clear cause, although it may be associated with diseases such as temporal lobe sclerosis, dysembryoplastic neuroepithelial tumours, and other benign tumours, as well as arterio-venous malformations, gliomas, defects in neuronal migration, or lesions of the cortex caused by encephalitis. AE is more common in children but has been reported in adults. AEs are characterised by recurrent and unexplained gastrointestinal symptoms such as seizure pain, nausea, bloating and diarrhoea, which improve with antiepileptic treatment. Given the vague nature of these symptoms, patients are at high risk of misdiagnosis. An electroencephalogram and neuroimaging of the brain are needed to confirm the diagnosis. We present the clinical case of a 67-year-old female patient who was investigated at the Gastroenterology Department for a sharp pain in the left side of the abdomen, frequent abdominal distension and gurgles, diarrhoeal episodes, weight loss, paroxysmal hallucinations, and headaches. After a thorough gastroenterological examination, consultations with a psychiatrist and a neurologist, an MRI and an EEG were performed and the patient was diagnosed with focal temporal lobe epilepsy.
{"title":"When the Stomach Pain Is Literally “In Your Head”","authors":"D. Jakubauskas, M. Sarafinaitė, R. Mameniškienė","doi":"10.29014/ns.2023.27.16","DOIUrl":"https://doi.org/10.29014/ns.2023.27.16","url":null,"abstract":"Abdominal epilepsy (AE) is an extremely rare condition, classified as temporal lobe epilepsy, and is usually a diagnosis of exclusion. Temporal lobe epilepsy often has no clear cause, although it may be associated with diseases such as temporal lobe sclerosis, dysembryoplastic neuroepithelial tumours, and other benign tumours, as well as arterio-venous malformations, gliomas, defects in neuronal migration, or lesions of the cortex caused by encephalitis. AE is more common in children but has been reported in adults. AEs are characterised by recurrent and unexplained gastrointestinal symptoms such as seizure pain, nausea, bloating and diarrhoea, which improve with antiepileptic treatment. Given the vague nature of these symptoms, patients are at high risk of misdiagnosis. An electroencephalogram and neuroimaging of the brain are needed to confirm the diagnosis. \u0000We present the clinical case of a 67-year-old female patient who was investigated at the Gastroenterology Department for a sharp pain in the left side of the abdomen, frequent abdominal distension and gurgles, diarrhoeal episodes, weight loss, paroxysmal hallucinations, and headaches. After a thorough gastroenterological examination, consultations with a psychiatrist and a neurologist, an MRI and an EEG were performed and the patient was diagnosed with focal temporal lobe epilepsy.","PeriodicalId":479531,"journal":{"name":"Neurologijos seminarai","volume":"134 38","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139780763","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
J. Vegytė, R. Podėnė, E. Dlugauskas, A. Vaitkevičius
Alzheimer’s disease is one of the most common neurodegenerative diseases among older people that manifests as deterioration of cognitive functions, impaired daily activities, and progressive degeneration of cerebral cortex neurons. Even up to 90% of Alzheimer’s patients develop neuropsychiatric symptoms at different stages of the disease. In some cases, neuropsychiatric symptoms appear earlier than cognitive symptoms. Neuropsychiatric symptoms worsen everyday activities, quality of life, and ability to socialise of people with Alzheimer's disease, making the diagnosis and treatment of these symptoms increasingly important. Evaluation of both cognitive and neuropsychiatric symptoms together with differentiation from primary psychiatric disorders is crucial for the correct diagnosis of Alzheimer’s disease. Furthermore, neuropsychiatric symptoms can be considered as risk factors for the development of Alzheimer’s disease. Treatment is recommended with combined pharmacological and non-pharmacological measures. Despite the large number of studies, the pathogenesis of the neuropsychiatric symptoms has not been studied in depth, therefore the treatments provided are not always effective. It is recommended that neuropsychiatric symptoms should be treated through a combined approach using pharmacological and non-pharmacological measures.
{"title":"Psichikos sutrikimų simptomai, sergant Alzheimerio liga","authors":"J. Vegytė, R. Podėnė, E. Dlugauskas, A. Vaitkevičius","doi":"10.29014/ns.2023.27.10","DOIUrl":"https://doi.org/10.29014/ns.2023.27.10","url":null,"abstract":"Alzheimer’s disease is one of the most common neurodegenerative diseases among older people that manifests as deterioration of cognitive functions, impaired daily activities, and progressive degeneration of cerebral cortex neurons. Even up to 90% of Alzheimer’s patients develop neuropsychiatric symptoms at different stages of the disease. In some cases, neuropsychiatric symptoms appear earlier than cognitive symptoms. Neuropsychiatric symptoms worsen everyday activities, quality of life, and ability to socialise of people with Alzheimer's disease, making the diagnosis and treatment of these symptoms increasingly important. Evaluation of both cognitive and neuropsychiatric symptoms together with differentiation from primary psychiatric disorders is crucial for the correct diagnosis of Alzheimer’s disease. Furthermore, neuropsychiatric symptoms can be considered as risk factors for the development of Alzheimer’s disease. Treatment is recommended with combined pharmacological and non-pharmacological measures. Despite the large number of studies, the pathogenesis of the neuropsychiatric symptoms has not been studied in depth, therefore the treatments provided are not always effective. It is recommended that neuropsychiatric symptoms should be treated through a combined approach using pharmacological and non-pharmacological measures.","PeriodicalId":479531,"journal":{"name":"Neurologijos seminarai","volume":"37 11","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139781988","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Background. Although investigations of the use of humour in the management of people with multiple sclerosis (PwMS) are not numerous, some significant findings have created the need to go deeper into the topic.Main research question. What are some of the potential benefits of humour in the management of PwMS, given the current state of scientific knowledge?Materials and methods. A scoping review was conducted using the PRISMA-ScR methodology. Information for the literature review was collected from the PubMed and Embase databases using the keywords “humour” and “multiple sclerosis”. Overall, 10 scientific investigations were analysed, grouped, interpreted, and generalized.Results. The research revealed: humour-based stress reduction for PwMS; the relationship between executive function and humour coping in PwMS; the distinctive influence of humour on employment status among individuals with relapsing-remiting multiple sclerosis (RRMS); the relationship between humour and personal long-term prognosis in PwMS; and the differences in perception of humour in PwMS.Conclusions. Appropriate use of humour (among other factors) can significantly improve the neuropsychological status in persons with RRMS and help them staying employed. Executive function and personalized long-term prognosis for PwMS are to some extent related to humor. Group analyses revealed lower scores in RRMS patients on humoristic visual tasks compared to scores on verbal tasks, and PwMS had impaired comprehension of figurative and humorous items compared to their comprehension of the literal items of simple medical responses.
{"title":"Humour in the management of multiple sclerosis: a scoping review","authors":"M. Šeduikienė, V. Matonis","doi":"10.29014/ns.2023.27.3","DOIUrl":"https://doi.org/10.29014/ns.2023.27.3","url":null,"abstract":"Background. Although investigations of the use of humour in the management of people with multiple sclerosis (PwMS) are not numerous, some significant findings have created the need to go deeper into the topic.Main research question. What are some of the potential benefits of humour in the management of PwMS, given the current state of scientific knowledge?Materials and methods. A scoping review was conducted using the PRISMA-ScR methodology. Information for the literature review was collected from the PubMed and Embase databases using the keywords “humour” and “multiple sclerosis”. Overall, 10 scientific investigations were analysed, grouped, interpreted, and generalized.Results. The research revealed: humour-based stress reduction for PwMS; the relationship between executive function and humour coping in PwMS; the distinctive influence of humour on employment status among individuals with relapsing-remiting multiple sclerosis (RRMS); the relationship between humour and personal long-term prognosis in PwMS; and the differences in perception of humour in PwMS.Conclusions. Appropriate use of humour (among other factors) can significantly improve the neuropsychological status in persons with RRMS and help them staying employed. Executive function and personalized long-term prognosis for PwMS are to some extent related to humor. Group analyses revealed lower scores in RRMS patients on humoristic visual tasks compared to scores on verbal tasks, and PwMS had impaired comprehension of figurative and humorous items compared to their comprehension of the literal items of simple medical responses.","PeriodicalId":479531,"journal":{"name":"Neurologijos seminarai","volume":"44 s209","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-11-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135343508","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Psychotic disorders in patients with Parkinson's disease are usually associated with poor cognitive performance, comorbidities, and changes in treatment regime. Despite the recognition of cognitive deficit as a major risk factor for psychosis in Parkinson's disease, psychotic events have been reported in patients without dementia. SARS-CoV-2 is now recognized as a harmful invader of the nervous system, and defining its consequences still requires multidirectional research. Patients with Parkinson's disease may develop psychosis during COVID-19 infection. According to our observation, psychotic disorder seems to be an isolated manifestation of SARS-CoV-2 infection in Parkinson's disease. In this article, we present two clinical cases of non-demented patients with Parkinson's disease who underwent full vaccination against SARS-CoV-2. The patients were on stable antiparkinsonian medication, had no previous psychiatric disturbances, and developed psychosis as a consequence of COVID-19 without any other clinical signs of infection; no recurrent psychotic disorders were registered during the one-year follow-up. The discussion on diagnostic difficulties and treatment options includes a review of the literature. We recommend to perform reverse transcription polymerase chain reaction (RT-PCR) swab testing for SARS-CoV-2 in patients with Parkinson's disease who develop acute psychosis.
{"title":"Psychosis as an Isolated Manifestation of COVID-19 in Non-Demented Patients with Parkinson's Disease: Clinical Cases and Literature Review","authors":"G. Lokominaitė, R. Kaladytė Lokominienė","doi":"10.29014/ns.2023.27.8","DOIUrl":"https://doi.org/10.29014/ns.2023.27.8","url":null,"abstract":"Psychotic disorders in patients with Parkinson's disease are usually associated with poor cognitive performance, comorbidities, and changes in treatment regime. Despite the recognition of cognitive deficit as a major risk factor for psychosis in Parkinson's disease, psychotic events have been reported in patients without dementia. SARS-CoV-2 is now recognized as a harmful invader of the nervous system, and defining its consequences still requires multidirectional research. Patients with Parkinson's disease may develop psychosis during COVID-19 infection. According to our observation, psychotic disorder seems to be an isolated manifestation of SARS-CoV-2 infection in Parkinson's disease. In this article, we present two clinical cases of non-demented patients with Parkinson's disease who underwent full vaccination against SARS-CoV-2. The patients were on stable antiparkinsonian medication, had no previous psychiatric disturbances, and developed psychosis as a consequence of COVID-19 without any other clinical signs of infection; no recurrent psychotic disorders were registered during the one-year follow-up. The discussion on diagnostic difficulties and treatment options includes a review of the literature. We recommend to perform reverse transcription polymerase chain reaction (RT-PCR) swab testing for SARS-CoV-2 in patients with Parkinson's disease who develop acute psychosis.","PeriodicalId":479531,"journal":{"name":"Neurologijos seminarai","volume":"28 2","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-11-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135390099","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Background. Friedrich Nietzsche (1844-1900) is one of the most profound modern philosophers. Since childhood, Nietzsche suffered from severe headaches, and at the age of thirty he became blind in his right eye. At the age of 44, Nietzsche experienced a mental collapse, after which he became dependent on others. For a long time, it was thought that neurosyphilis was the diagnosis of Nietzsche's symptoms. However, latest studies suggest other hypotheses.Materials and methods. Nietzsche's letters to his friends, the memories of his family members and friends, and the medical records of his doctors were analysed. On the basis of primary sources, a retrospective medical history of Nietzsche is presented. Furthermore, in accordance with secondary articles on Nietzsche's illnesses, the main hypotheses have been provided along with their advantages and disadvantages.Results. The hypothesis of neurosyphilis becomes obsolete. New diagnoses have been proposed: frontotemporal dementia, intracranial mass, MELAS syndrome, and CADASIL.Conclusions. Despite a detailed analysis of Nietzsche's illnesses, the exact diagnosis remains unclear.
{"title":"What was the cause of Friedrich Nietzsche's illness?","authors":"E. Žilinskas","doi":"10.29014/ns.2023.27.2","DOIUrl":"https://doi.org/10.29014/ns.2023.27.2","url":null,"abstract":"Background. Friedrich Nietzsche (1844-1900) is one of the most profound modern philosophers. Since childhood, Nietzsche suffered from severe headaches, and at the age of thirty he became blind in his right eye. At the age of 44, Nietzsche experienced a mental collapse, after which he became dependent on others. For a long time, it was thought that neurosyphilis was the diagnosis of Nietzsche's symptoms. However, latest studies suggest other hypotheses.Materials and methods. Nietzsche's letters to his friends, the memories of his family members and friends, and the medical records of his doctors were analysed. On the basis of primary sources, a retrospective medical history of Nietzsche is presented. Furthermore, in accordance with secondary articles on Nietzsche's illnesses, the main hypotheses have been provided along with their advantages and disadvantages.Results. The hypothesis of neurosyphilis becomes obsolete. New diagnoses have been proposed: frontotemporal dementia, intracranial mass, MELAS syndrome, and CADASIL.Conclusions. Despite a detailed analysis of Nietzsche's illnesses, the exact diagnosis remains unclear.","PeriodicalId":479531,"journal":{"name":"Neurologijos seminarai","volume":"38 4","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-11-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135342101","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
J. Valinčiūtė, P. Petkevičiūtė, R. Balnytė, J. Čiauškaitė
Introduction. As more information about cerebellar ataxia induced by anti- GAD65 antibodies is accumulated, cerebellar dysfunction is increasingly associated with autoimmune causes. The prevalence of other neurological syndromes associated with anti- GAD65 antibodies has been estimated, but the occurrence of cerebellar ataxia of the same cause has not yet been reported. The clinical presentation and management of anti-GAD65 antibodies induced cerebellar ataxia are currently known only from single cases and small series reports.
Case report. We present a clinical case of a 52-year-old woman who was admitted to the hospital due to dizziness, impaired coordination, occasional choking, and slurred speech. Diagnostic procedures were performed, in which anti-GAD65 antibodies and atrophic changes in the upper parts of the cerebellum were detected on brain MRI, which led to a possible diagnosis of anti-GAD65 antibody-associated cerebellar ataxia.
Discussion and literature review. Patients tend to be women in their 60s with clinical symptoms such as gait and posture ataxia. Most patients present with nystagmus, dysarthria, and limb ataxia. To make the diagnosis, it is crucial to detect high titers of anti-GAD65 antibodies, do intrathecal anti-GAD65 antibody synthesis, and perform a brain MRI, which may reveal atrophy of the cerebellum as the disease progresses. Corticosteroids are one of the recommended treatment methods, which were effective in our case. Maintenance therapy is essential to prevent relapse of the disease.
{"title":"Probable Anti-Glutamate Decarboxylase 65 (Gad65) Antibody-Associated Cerebellar Ataxia. Clinical Case Report and Literature Review","authors":"J. Valinčiūtė, P. Petkevičiūtė, R. Balnytė, J. Čiauškaitė","doi":"10.29014/ns.2023.27.6","DOIUrl":"https://doi.org/10.29014/ns.2023.27.6","url":null,"abstract":"Introduction. As more information about cerebellar ataxia induced by anti- GAD65 antibodies is accumulated, cerebellar dysfunction is increasingly associated with autoimmune causes. The prevalence of other neurological syndromes associated with anti- GAD65 antibodies has been estimated, but the occurrence of cerebellar ataxia of the same cause has not yet been reported. The clinical presentation and management of anti-GAD65 antibodies induced cerebellar ataxia are currently known only from single cases and small series reports.
 Case report. We present a clinical case of a 52-year-old woman who was admitted to the hospital due to dizziness, impaired coordination, occasional choking, and slurred speech. Diagnostic procedures were performed, in which anti-GAD65 antibodies and atrophic changes in the upper parts of the cerebellum were detected on brain MRI, which led to a possible diagnosis of anti-GAD65 antibody-associated cerebellar ataxia.
 Discussion and literature review. Patients tend to be women in their 60s with clinical symptoms such as gait and posture ataxia. Most patients present with nystagmus, dysarthria, and limb ataxia. To make the diagnosis, it is crucial to detect high titers of anti-GAD65 antibodies, do intrathecal anti-GAD65 antibody synthesis, and perform a brain MRI, which may reveal atrophy of the cerebellum as the disease progresses. Corticosteroids are one of the recommended treatment methods, which were effective in our case. Maintenance therapy is essential to prevent relapse of the disease.","PeriodicalId":479531,"journal":{"name":"Neurologijos seminarai","volume":"18 3","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-11-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135391225","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Multiple sclerosis (MS) is a chronic disease of the central nervous system (CNS) most commonly diagnosed in young adults. In recent decades, new treatments have emerged that have radically changed the prognosis and quality of life of these patients. However, this has also raised new challenges in predicting the course and activity of the disease before the development of new neurological deficits that aggravate the disability and in prescribing the most appropriate disease-modifying therapy for the individual patient in a timely manner. One of the possible solutions that could help answer these questions is the use of laboratory biomarkers in MS. In addition to the oligoclonal bands (OGB) and the immunoglobulin G index, which are already well known and clinically useful laboratory tests, other biomarkers have been discovered that can assess the inflammatory and neurodegenerative processes occurring in the CNS. Kappa free light chains and K-index have been identified as new potential diagnostic biomarkers for MS, with similar sensitivity and specificity to OGB. Some biomarkers have also shown the ability to differentiate a clinically isolated syndrome from MS and to identify the clinical course of MS. The concentration of chitinase-3-like protein in the cerebrospinal fluid is currently the only biomarker that can help distinguish MS from a clinically isolated syndrome. Levels of glial fibrillary acidic protein in cerebrospinal fluid and blood serum can help distinguish primary progressive MS from the relapsing-remitting course of this disease. Serum neurofilament light chain levels are considered the most useful biomarker for monitoring disease activity and treatment efficiency. This article discusses the most promising biomarkers for MS diagnosis, disease activity, and treatment response.
{"title":"Laboratory biomarkers for multiple sclerosis and their role in clinical practice","authors":"I. Navickaitë, G. Žemgulytė, R. Balnytė","doi":"10.29014/ns.2023.27.4","DOIUrl":"https://doi.org/10.29014/ns.2023.27.4","url":null,"abstract":"Multiple sclerosis (MS) is a chronic disease of the central nervous system (CNS) most commonly diagnosed in young adults. In recent decades, new treatments have emerged that have radically changed the prognosis and quality of life of these patients. However, this has also raised new challenges in predicting the course and activity of the disease before the development of new neurological deficits that aggravate the disability and in prescribing the most appropriate disease-modifying therapy for the individual patient in a timely manner. One of the possible solutions that could help answer these questions is the use of laboratory biomarkers in MS. In addition to the oligoclonal bands (OGB) and the immunoglobulin G index, which are already well known and clinically useful laboratory tests, other biomarkers have been discovered that can assess the inflammatory and neurodegenerative processes occurring in the CNS. Kappa free light chains and K-index have been identified as new potential diagnostic biomarkers for MS, with similar sensitivity and specificity to OGB. Some biomarkers have also shown the ability to differentiate a clinically isolated syndrome from MS and to identify the clinical course of MS. The concentration of chitinase-3-like protein in the cerebrospinal fluid is currently the only biomarker that can help distinguish MS from a clinically isolated syndrome. Levels of glial fibrillary acidic protein in cerebrospinal fluid and blood serum can help distinguish primary progressive MS from the relapsing-remitting course of this disease. Serum neurofilament light chain levels are considered the most useful biomarker for monitoring disease activity and treatment efficiency. This article discusses the most promising biomarkers for MS diagnosis, disease activity, and treatment response.","PeriodicalId":479531,"journal":{"name":"Neurologijos seminarai","volume":"31 3","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-11-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135390251","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Anti-neutrophil cytoplasmic antibodies (ANCA)-associated vasculitides (AAVs) are a group of autoimmune diseases that can affect many vital organs and tissues, as well as the nervous system. When peripheral nerves are affected, one of the clinical features of AAVs can be vasculitic neuropathies (VNs). This usually causes asymmetric weakness and numbness in the distal parts of extremities, frequently followed by pain. Nerve conduction study (NCS) reveals axonal loss in multiple individual nerves, whereas a length-dependent process may also be observed. As AAV is a rare diagnostic entity and can manifest with a vast variety of symptoms, it is seldom involved in the initial diagnostic work-up of polyneuropathy. Moreover, the only definitive diagnostic method for VN is peripheral nerve biopsy. Therefore, AAV represents one of the greatest difficulties in the differential diagnosis of neuropathies. In this article, we present a clinical case of a 73-year-old patient admitted to the hospital due to blurry vision, headache, and limb weakness. The findings of the neurological examination were consistent with polyneuropathy. A thorough examination was performed to determine the exact diagnosis. However, due to the lack of typical symptoms, VN was diagnosed only after acute renal failure evolved. This case demonstrates the many symptoms that AAV can present with and the importance of a thorough differential diagnosis for multiple mononeuropathies.
{"title":"Su ANCA susijusio vaskulito sukelta polineuropatija: klinikinio atvejo pristatymas","authors":"M. Jakiševaitė, I. Navickaitė, G. Žemgulytė","doi":"10.29014/ns.2023.27.7","DOIUrl":"https://doi.org/10.29014/ns.2023.27.7","url":null,"abstract":"Anti-neutrophil cytoplasmic antibodies (ANCA)-associated vasculitides (AAVs) are a group of autoimmune diseases that can affect many vital organs and tissues, as well as the nervous system. When peripheral nerves are affected, one of the clinical features of AAVs can be vasculitic neuropathies (VNs). This usually causes asymmetric weakness and numbness in the distal parts of extremities, frequently followed by pain. Nerve conduction study (NCS) reveals axonal loss in multiple individual nerves, whereas a length-dependent process may also be observed. As AAV is a rare diagnostic entity and can manifest with a vast variety of symptoms, it is seldom involved in the initial diagnostic work-up of polyneuropathy. Moreover, the only definitive diagnostic method for VN is peripheral nerve biopsy. Therefore, AAV represents one of the greatest difficulties in the differential diagnosis of neuropathies. In this article, we present a clinical case of a 73-year-old patient admitted to the hospital due to blurry vision, headache, and limb weakness. The findings of the neurological examination were consistent with polyneuropathy. A thorough examination was performed to determine the exact diagnosis. However, due to the lack of typical symptoms, VN was diagnosed only after acute renal failure evolved. This case demonstrates the many symptoms that AAV can present with and the importance of a thorough differential diagnosis for multiple mononeuropathies.","PeriodicalId":479531,"journal":{"name":"Neurologijos seminarai","volume":"5 7","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-11-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135390710","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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