Ideggyogyaszati Szemle-Clinical Neuroscience最新文献

{"title":"[Phenotypic variability in sisters with VPS13A disease (chorea-acanthocytosis)].","authors":"Ozge Gonul Oner, Asuman Orhan Varoglu","doi":"10.18071/isz.78.0069","DOIUrl":"10.18071/isz.78.0069","url":null,"abstract":"<p><p>Chorea-acanthocytosis (VPS13A disease) is a rare multisystem neurodegenerative disorder with a broad phenotypic spectrum. It is characterized by neuropsychiatric symptoms and the presence of acanthocytes. However, the relationship between acanthocytes and disease severity remains unclear. Diagnosis is established through genetic testing. We present two sisters with VPS13A disease, each exhibiting distinct clinical presentations. The younger presents with severe symptoms including drug-resistant epilepsy, neuropsychiatric issues, chorea, and self-mutilation, along with the presence of acanthocytes in her blood smear (10%). Genetic testing identified a homozygous synonymous mutation in the VPS13A gene (Chromosome 9: 79971783 G>C, exon 55, c.7806G>C, Pro2602=). Conversely, the older sister experiences only well controlled epileptic seizures and elevated creatine kinase levels, with no acanthocytes in peripheral blood smears, which have been performed three times. She also harbors the same homozygous synonymous mutation in the VPS13A gene. Our report highlights siblings with identical mutations but differing clinical presentations, emphasizing the variability in VPS13A disease manifestations. The younger sister has acanthocytosis and chorea, whereas the older did not demonstrate those features. The term \"VPS13A disease\" is proposed to encompass this group of diseases, acknowledging that acanthocytes or chorea may not always be present. Our findings support this terminological shift. Additionally, we first mentioned this synonymous mutation (NM_033305.3: c.7806G>C exon 55, p. Pro2602=) in the VPS13A gene, contributing to the understanding of this condition.</p>","PeriodicalId":50394,"journal":{"name":"Ideggyogyaszati Szemle-Clinical Neuroscience","volume":"78 1-2","pages":"69-72"},"PeriodicalIF":0.9,"publicationDate":"2025-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143558555","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[The role of dietary factors in cognitive decline].","authors":"Zita Breitenbach, Olívia Kulcsár, Fruzsina Péter, István Gáti, Éva Polyák","doi":"10.18071/isz.78.0005","DOIUrl":"10.18071/isz.78.0005","url":null,"abstract":"<p><p>The increasing morbidity and mortality of dementia places a significant burden on society in economic, social and health terms. In addition to the therapy of partially detectable etiologies, diet can also play a major role in reducing the risk of dementia. The most commonly studied dietary patterns in relation to cognitive decline are the Mediterranean diet, the DASH (Dietary Approaches to Stop Hypertension) diet for the prevention of hypertension, and the MIND (Mediterranean-DASH Intervention for Neurodegenerative Delay) diet, which has emerged as a new approach in the last decade, combining elements of the Mediterranean and DASH diets, but there is also considerable research on the ketogenic diet and intermittent fasting. This study aims to summarise all dietary factors that may play a role in the prevention and development of cognitive decline.</p>","PeriodicalId":50394,"journal":{"name":"Ideggyogyaszati Szemle-Clinical Neuroscience","volume":"78 1-2","pages":"5-18"},"PeriodicalIF":0.9,"publicationDate":"2025-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143558628","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association between angiotensin receptor blocker therapy and acute seizures in patients with stroke.","authors":"Zoltán Szupera, György Czifra, Bence Fülöp, Zsuzsa Hermann, Benjamin Jassoy, Alexandra Koszta, Katalin Kovács-Kusza, Edit Pordány-Bagoly, Szandra Singoszki, Gábor Szegleti, Vince Varga, Zoltán Kiss","doi":"10.18071/isz.78.0047","DOIUrl":"10.18071/isz.78.0047","url":null,"abstract":"<p><strong>Background and purpose: </strong>There are some new results that the angiotensin receptor blockers (ARB) therapy may associate with a lower risk of epilepsy. However, its pathomechanism and the patient characteristics are lacking. We asses, whether ARB therapy is associates with lower incidence of acute symptomatic seizures, compared with no ARB therapy in patients with acute stroke.</p><p><strong>Methods: </strong>There was a single-center, retrospective, observational cross-sectional study, enrolled patients with acute stroke admitted to our hospital, from 1 January 2019 to 31 December 2021. The data source was our hospital medical database. We allocated the enrolled patients into two groups, by receiving or not ARB therapy and defined a 7 days exposure window after stroke onset whether acute seizures appear. The primary outcome was the incidence of acute seizures associated with ARB therapy compared with no ARB therapy. The comparison of these groups was performed with t-test for independent samples. Analysis of seizure predictors was tested in univariable and multivariable logistic regression models.</p><p><strong>Results: </strong>The study included 1611 patients, mean [SD] age was 72.1 [±13.3] years; 801 (49.7%) were women, and 811 (50.3%) were men. The acute symptomatic seizures occurred in 4 of 235 patients (1.70%) in the ARB group and 78 of 1376 patients (5.67%) in the control group (P=0.014). In univariable analysis the variables significantly associated with acute symptomatic seizures: ARB the-rapy (odds ratio [OR], 0.29; 95% CI, 0.10-0.79; p=0.016), and with inverse association the hemorrhagic stroke (OR, 1.60; 95% CI, 1.50-4.52; p<0.001). In multivariable analy-sis, in addition to haemorrhage (OR, 2,46; 95% CI, 1,41-4,40; p<0.001) the ARB therapy remains significant (OR, 0.33; 95% CI, 0.12-0.91; p=0.032) as an independent predictor.</p><p><strong>Conclusion: </strong>Due to our results the ARB therapy associates with a lower incidence of acute symptomatic seizures, which raise a question about its antiseizure property. Therefore, additional studies require to give more evidences about advantage of ARB therapy in these patients.</p>","PeriodicalId":50394,"journal":{"name":"Ideggyogyaszati Szemle-Clinical Neuroscience","volume":"78 1-2","pages":"47-55"},"PeriodicalIF":0.9,"publicationDate":"2025-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143558638","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Successful treatment of a ruptured anterior cerebral artery dissecting aneurysm].","authors":"Csaba Zsolt Oláh, Ildikó Palló, Benedek Oláh, Attila Sas","doi":"10.18071/isz.78.0063","DOIUrl":"10.18071/isz.78.0063","url":null,"abstract":"<p><p>Dissection with subarachnoid hemorrhage is an unstable and dangerous condition because of the high rate of rerupture. The mortality of dissecting pseudoaneurysm is the worst among cerebral aneurysms. Dissecting pseudoaneurysms causing subarachnoid hemorrhage should be treated by endovascular intervention in the acute phase in most of the cases. Life-saving intervention must be performed urgently. Based on the treatment principle, interventions can be divided into two groups: deconstructive techniques involving the occlusion of the parent vessel and reconstructive techniques involving the preservation of the parent vessel. During reconstructive endovascular treatment, we currently use flow diverters, the disadvantage of which is that they require double platelet aggregation treatment, which complicates or prevents further open neurosurgical operations. A deconstructive technique is occlusion of the parent vessel proximal to the origin of the dissection. Good radiological and clinical results can be achieved using both techniques. In our case report, the unconscious state of a young boy was caused by massive ventricular hemorrhage and cerebral hematoma, the background of which was the rupture of an A2 dissection pseudoaneurysm. Parent vessel occlusion was performed urgently, while preserving the Heubner artery. With our treatment, a symptom-free recovery was achieved.</p>","PeriodicalId":50394,"journal":{"name":"Ideggyogyaszati Szemle-Clinical Neuroscience","volume":"78 1-2","pages":"63-68"},"PeriodicalIF":0.9,"publicationDate":"2025-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143558527","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Exploring pain phenomena and associations in Parkinson's disease: A Turkish perspective.","authors":"Baran Gozde, Oner Ozge Gonul","doi":"10.18071/isz.78.0056","DOIUrl":"10.18071/isz.78.0056","url":null,"abstract":"<p><strong>Background and purpose: </strong>Despite being recognised for a long time as a non-motor characteristic of Parkinson's disease (PD), pain is still a symptom that is underdiagnosed and undertreated. This study aimed to assess the relationship between PD patients' pain and sleep disturbances, depression, cognitive functions, fatigue and quality of life.</p><p><strong>Methods: </strong>A total of 100 patients with primary PD were recruited for this study. Their demographic and clinical features, including age, gender distribution, educational level, smoking, lateralization and duration of PD, and comorbid diseases were recorded. The patients were divided into two groups: patients with and without pain. The scores on the Unified Parkinson's Disease Rating Scale (UPDRS), Hoehn and Yahr Scale, Mini-Mental State Examination, Parkinson's Disease Questionnaire-39 (PDQ-39), Fatigue Severity Scale, Beck Depression and Anxiety Inventories, and Epworth Sleepiness Scale were compared between the two groups.</p><p><strong>Results: </strong>Statistical analyses regarding questionnaires revealed higher scores in various domains for PD patients with pain, although significance was not found in all measures (p > 0.05). However, PDQ-39 test scores were significantly higher in PD patients with pain compared to those without pain (p = 0.036). Patients with pain presented significantly higher scores than those without pain for all domains of the UPDRS and Hoehn-Yahr Scale (p < 0.05). In order of frequency, musculoskeletal pain, radicular pain, parkinsonian pain, headache, neuropathic pain, and inflammatory pain were detected.</p><p><strong>Conclusion: </strong>Our findings show that pain was prevalent in more than half of the participants, with musculoskeletal pain being the most common type. Additionally, experiencing multiple types of pain concurrently may highlight the complexity of pain presentation in this population, suggesting that pain in PD is frequent, complex, and related to impairment of quality of life of the patients.</p>","PeriodicalId":50394,"journal":{"name":"Ideggyogyaszati Szemle-Clinical Neuroscience","volume":"78 1-2","pages":"56-62"},"PeriodicalIF":0.9,"publicationDate":"2025-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143558587","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A case-control study of spermidine in obstructive sleep apnea.","authors":"Gurbuz Edanur, Saruhan Ercan, Bek Semai, Kutlu Gulnihal","doi":"10.18071/isz.78.0019","DOIUrl":"10.18071/isz.78.0019","url":null,"abstract":"<p><strong>Background and purpose: </strong>Obstructive sleep apnea (OSA) is a common sleep dis-order. Despite many studies, its etiology is not clearly known. Polyamines are ubiquitous positively charged amines found in all or-ga-nisms and one of the polyamines types is spermidine. In the literature, some articles demonstrate relationship between sleep dis-orders and polyamines. The common point of OSA and polyamines is oxidative stress. This study aimed to determine the serum levels of spermidine in patients with OSA and compare the results with healthy subjects.</p><p><strong>Methods: </strong>This cross-sectional case-cont-rol study was designed with 69 subjects. Sub-jects were selected from people who were referred to polysomnography due to complaints of sleep disturbance and snoring. They were divided into two groups according to their Apnea Hypopnea Index (AHI) scores: control (n=29; AHI<5), and OSA (n=40; AHI≥5). Spermidine levels were determined in serum samples by using an enzyme-linked immunosorbent assay (ELISA) kit.</p><p><strong>Results: </strong>After adjusting for age, body mass index (BMI), and gender, there was no significant difference in spermidine levels between OSA and controls (p=0.063, p=0.063, and p=0.818, respectively). There was no correlation between AHI and spermidine levels (rho=-0.063; p=0.698). The area under the Receiver Operating Characteristic (ROC) curve (AUC) was found to be 0.635 for spermidine.</p><p><strong>Conclusion: </strong>These results demonstrated that decreased levels of spermidine in OSA patients was related to age, BMI, and gender. The relationship between OSA and the polyamines pathway should be the subject of future studies with more homogenous groups to understand the roles of polyamines in OSA pathogenesis.</p>","PeriodicalId":50394,"journal":{"name":"Ideggyogyaszati Szemle-Clinical Neuroscience","volume":"78 1-2","pages":"19-25"},"PeriodicalIF":0.9,"publicationDate":"2025-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143558633","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Evaluation of electrophysiological changes before and after pramipexole treatment in patients diagnosed with idiopathic restless legs syndrome.","authors":"Tekesin Aysel, Erten Nilgun, Cimen Atalar Arife","doi":"10.18071/isz.78.0037","DOIUrl":"10.18071/isz.78.0037","url":null,"abstract":"<p><strong>Background and purpose: </strong>Restless legs syndrome (RLS) is a neurological disorder characterized by an irresistible urge to move the legs, frequently accompanied by unplea-sant sensations. In this study, we aimed to determine the changes in electrophysiologi-cal tests including F-wave responses and H-reflex parameters in patients with idiopathic RLS after pramipexole medication.</p><p><strong>Methods: </strong>This prospective study was con-ducted with twenty newly diagnosed, idiopathic RLS patients. The electrophysiological parameters, specifically F-wave duration (FWD), the duration of related compound muscle action potential (CMAPD), and FWD/CMAPD ratio, the ratio of maximum H-reflex amplitude(H) to maximum M-response amplitude (M)(H/M) were recorded in patients with idiopathic RLS before and after pramipexole medication.</p><p><strong>Results: </strong>The results revealed significant improvements in specific electrophysio-lo-gical parameters after pramipexole use. We observed a significant decrease in FWD, CMAPD, and FWD/CMAPD values after pra-mipexole treatment suggesting a reduction in motor neuron excitability. We also ob-ser-ved a significant decrease in H/M ratio after pramipexole medication indicating reduced spinal motor neuron excitability.</p><p><strong>Conclusion: </strong>This study demonstrated significant improvement in specific electrophysiological parameters following pramipexole treatment in patients with idiopathic RLS. The findings provide better understanding of the effects of pramipexole on nerve function and may contribute to the development of a monitoring tool and lead to more targeted treatments and interventions for RLS, improving the overall management and care for patients' outcomes and quality of life with this debilitating condition.</p>","PeriodicalId":50394,"journal":{"name":"Ideggyogyaszati Szemle-Clinical Neuroscience","volume":"78 1-2","pages":"37-46"},"PeriodicalIF":0.9,"publicationDate":"2025-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143558560","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[New treatment options of myasthenia gravis, new approach to biological agents, reimbursement of new therapies in Hungary].","authors":"Csilla Rózsa","doi":"10.18071/isz.78.0027","DOIUrl":"10.18071/isz.78.0027","url":null,"abstract":"<p><p>Myasthenia gravis (MG) is an antibody-mediated disorder of the neuromuscular transmission, presenting with fatigable weakness that is either isolated to ocular muscles only or generalised (limb, bulbar and respiratory muscles can be affected). The disorder is estimated to affect around 1700 patients in our country. In some cases symptomatic treatment with acetylcholinesterase inhibitors may be sufficient, but most patients with MG require immunosuppressive drugs at some point for disease control, which is achieved in about 60-70% of patients. 10-20% of MG cases are refractory; they do not respond adequately to the traditional treatments or suffer from severe side effects. In the past few years, new biological agents against complement, the FcRn receptor, or B-cell antigens have been tested in clinical trials. These new therapies extend the possibilities for targeted immunotherapies and promise exciting new options with a relatively rapid mode of action. The goal of the treatment of MG is achieving remission, avoiding myasthenic crisis and eliminating symptoms which worsen the quality of life of our patients. The disease is rare, the clinical picture is variable, therefore the treatment of MG patients, especially of refractory MG should be conducted in neuroimmunological centres with adequate expertise in MG. For the adequate treatment of refractory MG we need the new drugs to be reimbursed in our country.</p>","PeriodicalId":50394,"journal":{"name":"Ideggyogyaszati Szemle-Clinical Neuroscience","volume":"78 1-2","pages":"27-36"},"PeriodicalIF":0.9,"publicationDate":"2025-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143558383","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Joint guideline of the Headache Working  Group of the Hungarian Headache Society (MFT) and the Hungarian Pain Society (MOFT) for the practical care of acute and chronic migraine].","authors":"Gergely Fehér, Délia Szok, Judit Szilvia Ambrus, Eszter Balogh, Áron Bartha, János Tajti, Erika Budai, Levente Kerényi","doi":"10.18071/isz.77.0367","DOIUrl":"10.18071/isz.77.0367","url":null,"abstract":"<p><p>Migraine is a disabling primary headache disorder that directly affects a significant proportion of the population. Despite its widespread prevalence, migraine remains under-diagnosed and under-treated. To support clinical decision-making, we convened a panel of experts to develop a clinical approach to the diagnosis and management of migraine. This consensus paper was established by experts and supported by a review of current literature, and it was also endorsed by the Hungarian Pain Society and the Hungarian Headache Society. We introduce typical clinical features, diagnostic criteria, subtypes, pitfalls and differential diagnoses of migraine. We outline best practices for acute and preventive treatment of migraine in various patient populations, including adults, women with childbearing potential (menstruation migraine, pregnancy etc) and the potential cardiovascular risk of migraineurs. </p>","PeriodicalId":50394,"journal":{"name":"Ideggyogyaszati Szemle-Clinical Neuroscience","volume":"77 11-12","pages":"368-378"},"PeriodicalIF":0.9,"publicationDate":"2024-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142787554","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Long COVID - neurological or somatoform disease?]","authors":"Dalma Tényi, Tamás Tényi, József Janszky","doi":"10.18071/isz.77.0397","DOIUrl":"10.18071/isz.77.0397","url":null,"abstract":"<p><strong>Background and purpose: </strong>Post-COVID condition (also known as long COVID) is a syndrome characterized by persistent symptoms following a suspected or confirmed SARS-CoV-2 infection, lasting for at least two months and are not attributable to other conditions. The most common symptoms include fatigue, diffuse pain, post-exertional malaise and “brain fog” (impairment of memory and concentration). The pathomechanism of long COVID is the subject of ongoing, intensive research. Our purpose was to review the literature on the pathomechanism of long COVID.</p><p><strong>Methods: </strong>We reviewed original and review articles in Hungarian and English on the pathomechanism of long COVID, published between January 2019 and June 2024, in the PubMed and Google Scholar databases.</p><p><strong>Results: </strong>Potential underlying causes of the symptoms are outlined in three main theories. 1) The concept of “long COVID as a distinct neurological disease” suggests that direct viral neuroinvasion, apoptosis, and demyelination processes are responsible for the symptoms. 2) The theory of “long COVID as a systemic disease with neurological symptoms” is based on the virus induced, prolonged cytokine and chemokine release, as well as the reactivation of latent viral infections. 3) According to the concept of “long COVID as a somatoform disorder”, the disease results from abnormal activation of the proinflammatory cytokine network leading to central nervous system sensitization, a well-known psychoneuroimmunological mechanism. Our study highlighted significant overlaps between long COVID and conditions such as chronic fatigue syndrome/myalgic encephalomyelitis, a group of symptoms not defined as a distinct mental disorder in DSM-5, but commonly referred to as Gulf War syndrome, chronic Lyme disease and somatic symptom disorder.</p><p><strong>Conclusion: </strong>The pathomechanism of long COVID, which presents with a wide range of nonspecific symptoms, remains unknown, and no reproducible disease-specific biomarker has been identified to date. Clarifying the etiology of the disease is crucial for determining adequate and effective therapeutic methods.</p>","PeriodicalId":50394,"journal":{"name":"Ideggyogyaszati Szemle-Clinical Neuroscience","volume":"77 11-12","pages":"397-405"},"PeriodicalIF":0.9,"publicationDate":"2024-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142787558","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}