Neurologia i neurochirurgia polska最新文献

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Overlapping challenges of treating cerebrospinal fluid dynamic disorders. 治疗脑脊液动力障碍的重叠挑战。
IF 2.9 4区 医学
Neurologia i neurochirurgia polska Pub Date : 2024-01-01 DOI: 10.5603/pjnns.99220
Olga P Fermo
{"title":"Overlapping challenges of treating cerebrospinal fluid dynamic disorders.","authors":"Olga P Fermo","doi":"10.5603/pjnns.99220","DOIUrl":"10.5603/pjnns.99220","url":null,"abstract":"","PeriodicalId":19132,"journal":{"name":"Neurologia i neurochirurgia polska","volume":null,"pages":null},"PeriodicalIF":2.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140022254","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}
引用次数: 0
Comparison of autonomic dysfunction in patients with Parkinson's Disease, progressive supranuclear palsy, and multiple system atrophy. 帕金森病、进行性核上性麻痹和多系统萎缩患者自主神经功能障碍的比较。
IF 2.9 4区 医学
Neurologia i neurochirurgia polska Pub Date : 2024-01-01 Epub Date: 2023-12-27 DOI: 10.5603/pjnns.96939
Jakub J Malkiewicz, Joanna Siuda
{"title":"Comparison of autonomic dysfunction in patients with Parkinson's Disease, progressive supranuclear palsy, and multiple system atrophy.","authors":"Jakub J Malkiewicz, Joanna Siuda","doi":"10.5603/pjnns.96939","DOIUrl":"10.5603/pjnns.96939","url":null,"abstract":"<p><strong>Aim of the study: </strong>To assess and compare autonomic nervous system (ANS) dysfunction, especially cardiovascular dysautonomia, in Parkinson's Disease (PD), multiple system atrophy (MSA), progressive supranuclear palsy (PSP), and healthy controls.</p><p><strong>Clinical rationale for the study: </strong>Assessment of ANS can be useful in differential diagnosis. Dysautonomia affects quality of life and can lead to potentially life-threatening complications. There is very little literature data regarding dysautonomia in PSP in relation to other parkinsonian syndromes. This study expands the knowledge about ANS dysfunction in parkinsonisms, especially PSP.</p><p><strong>Material and methods: </strong>Patients with PD, MSA and PSP were prospectively recruited to our study. Demographic data and information about clinical and neuropsychological assessment, medication and comorbidities was collected. SCOPA-AUT questionnaire, 5-minute tilt test, and 5-minute heart rate variability (HRV) analysis in time and frequency domains were used to assess ANS. Analysis was also performed in patients with PSP-RS and PSP-P phenotypes, and in a subgroup with eliminated confounding factors, including age and disease duration.</p><p><strong>Results: </strong>76 PD, 25 PSP, and 12 MSA patients, and 20 controls, were included. Symptoms of dysautonomia revealed by a SCOPA-AUT questionnaire were present in all groups of patients. Urinary dysfunction was more pronounced in atypical parkinsonisms, and cardiovascular symptoms in α-synucleinopathies. HRV was disrupted in all groups of patients. However, when PSP-P and PSP-RS phenotypes were considered, HRV was diminished in PSP-RS, but there were no differences in HRV parameters between PSP-P and controls. Neurogenic orthostatic hypotension was present in 25% of PD and 58% of MSA patients, but it was absent in PSP patients and the control group. 13 PD and nine PSP patients and 16 controls were included in subanalysis. This revealed that PSP, but not PD, patients had significantly more symptoms of dysautonomia and lower HRV indices compared to controls, and that orthostatic hypotension was even more common in PD than in controls.</p><p><strong>Conclusions and clinical implications: </strong>Our study suggests that dysautonomia is common in PD, MSA and PSP, even though it has different profiles in the different diseases. NOH is present in PD and MSA, but not in PSP.</p>","PeriodicalId":19132,"journal":{"name":"Neurologia i neurochirurgia polska","volume":null,"pages":null},"PeriodicalIF":2.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139040299","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}
引用次数: 0
Normal pressure hydrocephalus, or Hakim syndrome: review and update. 正压性脑积水或哈基姆综合征:回顾与更新。
IF 2.9 4区 医学
Neurologia i neurochirurgia polska Pub Date : 2024-01-01 Epub Date: 2023-12-06 DOI: 10.5603/pjnns.97343
Philip W Tipton, Benjamin D Elder, Petrice M Cogswell, Neill Graff-Radford
{"title":"Normal pressure hydrocephalus, or Hakim syndrome: review and update.","authors":"Philip W Tipton, Benjamin D Elder, Petrice M Cogswell, Neill Graff-Radford","doi":"10.5603/pjnns.97343","DOIUrl":"10.5603/pjnns.97343","url":null,"abstract":"<p><p>This review makes the case that idiopathic normal pressure hydrocephalus (iNPH) is an outdated term because new information indicates that the syndrome is less idiopathic and that the cerebrospinal fluid (CSF) pressure of normal individuals is affected by several factors such as body mass index, age, and sex. Our review updates the epidemiology of iNPH and provides a clinical approach to the management of these patients. All the clinical features of iNPH are common in older individuals, and each has many causes, so the diagnosis is difficult. The first step in reaching an accurate diagnosis is to address the possible contributory factors to the gait abnormality and determine what if any role iNPH may be playing. The two best diagnostic tests are neuroimaging and cerebrospinal fluid (CSF) diversion (large volume lumbar puncture or external lumbar drainage) with pre/post gait evaluation. This review provides an update on the growing evidence that vascular disease, impaired CSF absorption, congenital, and genetic factors all contribute to the pathogenesis of iNPH. We suggest replacing the term iNPH with the term Hakim syndrome (HS) in acknowledgement of the first person to describe this syndrome. Lastly, we discuss the improvements in shunt technology and surgical techniques that have decreased the risks and long-term complications of shunt surgery.</p>","PeriodicalId":19132,"journal":{"name":"Neurologia i neurochirurgia polska","volume":null,"pages":null},"PeriodicalIF":2.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138488049","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}
引用次数: 0
Updates on pharmacological treatment for Alzheimer's disease: response to Letter to the Editors. 阿尔茨海默病药物治疗的最新进展:回应致编辑的信。
IF 2.9 4区 医学
Neurologia i neurochirurgia polska Pub Date : 2024-01-01 Epub Date: 2023-12-19 DOI: 10.5603/pjnns.98249
Philip W Tipton
{"title":"Updates on pharmacological treatment for Alzheimer's disease: response to Letter to the Editors.","authors":"Philip W Tipton","doi":"10.5603/pjnns.98249","DOIUrl":"10.5603/pjnns.98249","url":null,"abstract":"","PeriodicalId":19132,"journal":{"name":"Neurologia i neurochirurgia polska","volume":null,"pages":null},"PeriodicalIF":2.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138808358","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}
引用次数: 0
Unilateral gamma knife thalamotomy for tremor safety and efficacy in multimodal assessment: a prospective case-control study with two-year follow-up. 多模式评估单侧伽玛刀丘脑切开术治疗震颤的安全性和有效性:一项为期两年的前瞻性病例对照研究。
IF 2.9 4区 医学
Neurologia i neurochirurgia polska Pub Date : 2024-01-01 Epub Date: 2024-05-14 DOI: 10.5603/pjnns.98157
Monika Figura, Joanna Przytycka, Sebastian Dzierzęcki, Mateusz Szumilas, Stanisław Szlufik, Łukasz Milanowski, Maria Kłoda, Karolina Duszyńska-Wąs, Renata Kowalska-Taczanowska, Agnieszka Drzewińska, Karol Sadowski, Aleksandra Korn, Anna Ziobro, Katarzyna Bochniak, Andrzej Friedman, Mirosław Ząbek, Dariusz Koziorowski
{"title":"Unilateral gamma knife thalamotomy for tremor safety and efficacy in multimodal assessment: a prospective case-control study with two-year follow-up.","authors":"Monika Figura, Joanna Przytycka, Sebastian Dzierzęcki, Mateusz Szumilas, Stanisław Szlufik, Łukasz Milanowski, Maria Kłoda, Karolina Duszyńska-Wąs, Renata Kowalska-Taczanowska, Agnieszka Drzewińska, Karol Sadowski, Aleksandra Korn, Anna Ziobro, Katarzyna Bochniak, Andrzej Friedman, Mirosław Ząbek, Dariusz Koziorowski","doi":"10.5603/pjnns.98157","DOIUrl":"10.5603/pjnns.98157","url":null,"abstract":"<p><strong>Introduction: </strong>Unilateral gamma knife thalamotomy (GKT) is a treatment option for pharmacoresistant tremor of various aetiologies. There have been to date no randomised controlled trials performed to assess its safety and efficacy. Our aim was to summarise a two-year multimodal observation of patients with tremor caused by Parkinson's Disease (PD) or essential tremor (ET).</p><p><strong>Material and methods: </strong>23 patients with PD (n = 12) or ET (n = 11) were included. They underwent assessments before, V0 (n = 23), and 12 months, V12 (n = 23), and 24 months, V24 (n = 15), after unilateral GKT. Patients were assessed with psychological tests and acoustic voice analysis. Tremor assessment was performed with a digitising table using the Fahn-Tolosa-Marin rating scale (FTMRS). The Unified Parkinson's Disease rating scale part III (UPDRS-III) was also used in the PD group. Gait and balance was assessed using clinical tests, stabilometric platform, and treadmill.</p><p><strong>Results: </strong>No side effects were observed in a two-year follow-up. There was no notable deterioration observed in the patients' psychological evaluation, speech, or assessment of gait and balance. The scores were significantly lower (p = 0.01) in parts A and B of FTMRS one year after GKT. In post hoc analysis, the scores did not differ significantly between V0 and V24. In FTMRS part C (activities of daily living), no significant change was observed. There was no significant difference in total UPDRS part III score or in score of UPDRS part III domains 3 and 4 ('tremor at rest' and 'action and postural tremor of hands') between measurements.</p><p><strong>Conclusions: </strong>UGKT may be a safe treatment modality if performed in an experienced centre. Tremor reduction may diminish over time, and UGKT did not lead to cognitive, gait or speech deterioration in a long-term observation.</p>","PeriodicalId":19132,"journal":{"name":"Neurologia i neurochirurgia polska","volume":null,"pages":null},"PeriodicalIF":2.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140921789","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}
引用次数: 0
Indomethacin-responsive trigeminal autonomic cephalgias: a review of key characteristics and pathophysiology. 吲哚美辛反应性三叉神经自律性头痛:主要特征和病理生理学综述。
IF 2.9 4区 医学
Neurologia i neurochirurgia polska Pub Date : 2024-01-01 Epub Date: 2024-06-27 DOI: 10.5603/pjnns.99747
Aleksander Osiowski, Kacper Stolarz, Katarzyna Baran, Maksymilian Osiowski, Tomasz Klepinowski, Dominik Taterra
{"title":"Indomethacin-responsive trigeminal autonomic cephalgias: a review of key characteristics and pathophysiology.","authors":"Aleksander Osiowski, Kacper Stolarz, Katarzyna Baran, Maksymilian Osiowski, Tomasz Klepinowski, Dominik Taterra","doi":"10.5603/pjnns.99747","DOIUrl":"10.5603/pjnns.99747","url":null,"abstract":"<p><p>Trigeminal autonomic cephalgias (TACs) are a well-defined subset of uncommon primary headaches that share comparable onset, pathophysiology and symptom patterns. TACs are characterised by the presentation of one-sided and high-intensity trigeminal pain together with unilateral cranial autonomic signs, which can include lacrimation, rhinorrhea, and miosis. The International Classification of Headache Disorders 3rd Edition recognises four different headache entities in this group, with cluster headache as the most recognised among them. Hemicrania continua (HC) and paroxysmal hemicrania (PH) are both distinctive cephalgias of which the diagnostic criteria include an absolute response to indomethacin. Consequently, for this reason they are often referred to as 'indomethacin-responsive' TACs. The main focus of this review was to discuss the state of knowledge regarding the pathophysiology and key characteristics of PH and HC. Given the limited understanding of these conditions, and their exceptionally uncommon prevalence, a correct diagnosis can pose a clinical challenge and the search for an effective treatment may be prolonged, which frequently has a serious impact upon patients' quality of life. The information provided in this review is meant to help physicians to differentiate indomethacin-sensitive cephalgias from other distinct headache disorders with a relatively similar clinical presentation, such as cluster headache, trigeminal neuralgia, and various migraine conditions.</p>","PeriodicalId":19132,"journal":{"name":"Neurologia i neurochirurgia polska","volume":null,"pages":null},"PeriodicalIF":2.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141458338","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}
引用次数: 0
SERPINE1 and MTHFR genetic variants in patients with embolic stroke of undetermined source: links with fibrin clot properties. 来源不明的栓塞性中风患者的 SERPINE1 和 MTHFR 基因变异:与纤维蛋白凝块特性的联系。
IF 2.9 4区 医学
Neurologia i neurochirurgia polska Pub Date : 2024-01-01 Epub Date: 2024-06-12 DOI: 10.5603/pjnns.99352
Adrianna Klajmon, Michał Ząbczyk, Anetta Undas, Joanna Natorska
{"title":"SERPINE1 and MTHFR genetic variants in patients with embolic stroke of undetermined source: links with fibrin clot properties.","authors":"Adrianna Klajmon, Michał Ząbczyk, Anetta Undas, Joanna Natorska","doi":"10.5603/pjnns.99352","DOIUrl":"10.5603/pjnns.99352","url":null,"abstract":"<p><strong>Introduction: </strong>The SERPINE1 c.-820G (4_5), MTHFR gene variants, and unfavourably altered fibrin clot features, have been suspected to be associated with embolic stroke of undetermined source (ESUS). We investigated the SERPINE1 c.-820G (4_5) gene variants alone and coexisting with MTHFR c.665C > T and c.1286A > C gene variants in relation to thrombophilic factors and plasma fibrin clot properties in Polish patients with ESUS.</p><p><strong>Patients and methods: </strong>Unrelated consecutive patients with ESUS (n = 206) were genotyped by TaqMan assay. Thrombophilia screening was performed four weeks or more after a thrombotic event while off oral anticoagulation. Factor VIII (FVIII) activity was determined by a coagulometric assay, while lipoprotein(a) was determined using immunoturbidimetry. We determined fibrin clot permeability (Ks) and clot lysis time (CLT). Apparently healthy individuals without a family history of stroke or venous thromboembolism (n = 30), and patients with a history of atrial fibrillation (n = 25) or carotid artery disease-related stroke (n = 21), served as controls.</p><p><strong>Results: </strong>Among ESUS patients, the SERPINE1 c.-820G (4_5) minor allele frequency was 0.57. There were no differences in common factors associated with thrombophilia among ESUS patients regarding SERPINE1 variants. The overall prevalence of FVIII > 150IU/dL was 26% (n = 53) and elevated FVIII predominated in SERPINE1 variants carriers (n = 45; 84.9%), including 36 (68%) carriers of MTHFR variant. Moreover, 4.3-fold higher Lp(a) levels along with 50% reduced Ks and 46% prolonged CLT were found in patients with mutant SERPINE1 combined with mutant homozygotes in the MTHFR c.665C > T variant compared to the wild type SERPINE1 combined with mutant homozygotes in the MTHFR c.665C >T (P < 0.001).</p><p><strong>Conclusions: </strong>The SERPINE1 c.-820G (4_5) variants carriers have increased FVIII levels, while the SERPINE1 c.-820G (4_5) mutant homozygotes coexisting with MTHFR c.665C > T have more prothrombotic fibrin clot features and elevated Lp(a). Our study underlines the cumulative effect of genetic risk factors in patients with ESUS that might require specific antithrombotic therapy.</p>","PeriodicalId":19132,"journal":{"name":"Neurologia i neurochirurgia polska","volume":null,"pages":null},"PeriodicalIF":2.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141306430","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}
引用次数: 0
Validation of Polish version of Gastrointestinal Dysfunction Scale for Parkinson's Disease. 波兰语版帕金森病胃肠功能紊乱量表的验证。
IF 2.9 4区 医学
Neurologia i neurochirurgia polska Pub Date : 2024-01-01 Epub Date: 2024-06-07 DOI: 10.5603/pjnns.98275
Julia M Nowak, Aleksandra Antoniak, Mateusz Kopczyński, Weronika Zając, Karol Sadowski, Łukasz Milanowski, Dariusz Koziorowski, Monika Figura
{"title":"Validation of Polish version of Gastrointestinal Dysfunction Scale for Parkinson's Disease.","authors":"Julia M Nowak, Aleksandra Antoniak, Mateusz Kopczyński, Weronika Zając, Karol Sadowski, Łukasz Milanowski, Dariusz Koziorowski, Monika Figura","doi":"10.5603/pjnns.98275","DOIUrl":"10.5603/pjnns.98275","url":null,"abstract":"<p><strong>Aim of study: </strong>The Gastrointestinal Dysfunction Scale for Parkinson's Disease (GIDS-PD) is a novel, disease-specific self-report questionnaire used to quantitatively assess features of gastrointestinal dysfunction symptoms in patients with Parkinson's Disease. The aim of this paper was to validate the Polish translation of the scale, to summarise its consistency with the English language version, and to assess its clinimetric properties.</p><p><strong>Clinical rationale for study: </strong>Gastrointestinal dysfunction is a common and often debilitating manifestation of Parkinson's Disease (PD). Gastrointestinal symptoms are also considered to be prodromal features of this disease. To date, there has been no scale in Polish that has precisely assessed gastrointestinal symptoms in patients with PD.</p><p><strong>Material and methods: </strong>The GIDS-PD was translated into Polish by two investigators (M.K. and J.N.). A back-translation was completed by two separate investigators (M.F. and A.A.) who were not involved in the original translation. Afterwards, 10 Polish PD patients underwent cognitive pre-testing. After the final translation was officially approved by the Movement Disorder Society, it was tested on 64 individuals with PD during field testing. For the purpose of testing scale reliability, 20 of the patients recruited for field testing underwent the GIDS-PD for a second time after 8-12 weeks.</p><p><strong>Results: </strong>The GIDS-PD demonstrated overall good consistency (Cronbach's alpha of 0.74, ICC of 0.74). Regarding the individual domains, the constipation subscore demonstrated good reliability, the bowel irritability subscore demonstrated moderate reliability, and the upper GI subscore demonstrated poor reliability. Upper GI symptoms seem to be less pronounced, and also more varied, in the Polish PD population than in its English language counterpart.</p><p><strong>Conclusions and clinical implications: </strong>This paper provides a validated Polish translation of the GIDS-PD questionnaire. We highly recommend using the GIDS-PD for research purposes, as well as everyday clinical practice in the Polish PD population.</p>","PeriodicalId":19132,"journal":{"name":"Neurologia i neurochirurgia polska","volume":null,"pages":null},"PeriodicalIF":2.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141284324","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}
引用次数: 0
Small vessel disease in primary familial brain calcification with novel truncating PDGFB variants. 原发性家族性脑钙化中的小血管疾病与新型截短 PDGFB 变体。
IF 2.9 4区 医学
Neurologia i neurochirurgia polska Pub Date : 2024-01-01 Epub Date: 2023-12-29 DOI: 10.5603/pjnns.97716
Maha Yektay Farahmand, Johan Wasselius, Elisabet Englund, Irwin Braverman, Andreas Puschmann, Andreea Ilinca
{"title":"Small vessel disease in primary familial brain calcification with novel truncating PDGFB variants.","authors":"Maha Yektay Farahmand, Johan Wasselius, Elisabet Englund, Irwin Braverman, Andreas Puschmann, Andreea Ilinca","doi":"10.5603/pjnns.97716","DOIUrl":"10.5603/pjnns.97716","url":null,"abstract":"<p><strong>Introduction: </strong>Primary familial brain calcification (PFBC) is a neurodegenerative disease characterised by bilateral calcification in the brain, especially in the basal ganglia, leading to neurological and neuropsychiatric manifestations. White matter hyperintensities (WMH) have been described in patients with PFBC and pathogenic variants in the gene for platelet-derived growth factor beta polypeptide (PDGFB), suggesting a manifest cerebrovascular process. We present below the cases of two PFBC families with PDGFB variants and stroke or transient ischaemic attack (TIA) episodes. We examine the possible correlation between PFBC and vascular events as stroke/TIA, and evaluate whether signs for vascular disease in this condition are systemic or limited to the cerebral vessels.</p><p><strong>Material and methods: </strong>Two Swedish families with novel truncating PDGFB variants, p.Gln140* and p.Arg191*, are described clinically and radiologically. Subcutaneous capillary vessels in affected and unaffected family members were examined by light and electron microscopy.</p><p><strong>Results: </strong>All mutation carriers showed WMH and bilateral brain calcifications. The clinical presentations differed, with movement disorder symptoms dominating in family A, and psychiatric symptoms in family B. However, affected members of both families had stroke, TIA, and/or asymptomatic intracerebral ischaemic lesions. Only one of the patients had classical vascular risk factors. Skin microvasculature was normal.</p><p><strong>Conclusions: </strong>Patients with these PDGFB variants develop microvascular changes in the brain, but not the skin. PDGFB-related small vessel disease can manifest radiologically as cerebral haemorrhage or ischaemia, and may explain TIA or stroke in patients without other vascular risk factors.</p>","PeriodicalId":19132,"journal":{"name":"Neurologia i neurochirurgia polska","volume":null,"pages":null},"PeriodicalIF":2.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139074571","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}
引用次数: 0
Neuronal pentraxin 2 correlates with neurodegeneration but not cognition in idiopathic normal pressure hydrocephalus (iNPH). 神经元五肽 2 与特发性正常压力脑积水(iNPH)的神经变性相关,但与认知能力无关。
IF 2.9 4区 医学
Neurologia i neurochirurgia polska Pub Date : 2024-01-01 Epub Date: 2024-02-23 DOI: 10.5603/pjnns.98212
Megha Patel, Yifan Zhang, Mei-Fang Xiao, Paul Worley, Abhay Moghekar
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