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Do Parkinson's Disease clinical subtypes really exist?
IF 2.9 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-03-03 DOI: 10.5603/pjnns.103572
Marta Filidei, Luca Marsili, Carlo Colosimo

Introduction: Parkinson's Disease (PD) is a highly heterogeneous entity in terms of clinical manifestations, progression, and treatment response. This variability has given rise to the hypothesis that different clinical subtypes of the disease exist.

State of the art: To date, several clinical subtypes have been described, mostly based on different clinical features, and sometimes with the support of biomarkers, either fluid, neuroimaging, or neurophysiological. The most homogeneous subtypes detected are a 'benign subtype', characterised by younger age at onset, mild non-motor symptoms, and a slower rate of disease progression, and a 'malignant subtype', which features an older age at onset, a higher burden of non-motor symptoms, and faster disease progression.

Clinical implications: Despite extensive research, none of the subtypes identified so far seem to be biologically supported, so clinical subtyping does not elucidate PD aetiology and does not allow for the prediction of prognosis or treatment response. This study was aimed to review the literature on this topic and to examine the studies on PD subtyping. We also reviewed the proposed biomarkers for a biological classification of PD, and outlined the role of genetics and pathology within this context.

Future directions: In light of the recent proposal of a biological classification of PD, which might overcome the limits of the clinical diagnosis, PD subtyping should hopefully shepherd researchers towards a biological approach, also aided by recent advances in the field of biomarkers.

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引用次数: 0
Acute kidney injury negatively affects short and long-term outcomes of mechanical thrombectomy in acute ischaemic stroke.
IF 2.9 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-02-27 DOI: 10.5603/pjnns.102569
Katarzyna Sawczyńska, Paweł Wrona, Kaja Zdrojewska, Dominik Wróbel, Kamil Wężyk, Paulina Sarba, Tadeusz Popiela, Agnieszka Słowik, Marcin Krzanowski

Aim of study: We aimed to assess the impact of acute kidney injury (AKI) during hospitalisation on short- and long-term outcomes of mechanical thrombectomy (MT) in patients with acute ischaemic stroke (AIS).

Clinical rationale for study: AKI is a common complication in AIS patients treated with MT. Some studies examining its impact on prognosis have shown an association of AKI with worse MT outcomes, but observations exceeding three months are lacking.

Material and methods: To this observational cohort study, we included all AIS patients treated with MT in the University Hospital in Krakow from 2019 to 2021. AKI during hospitalisation was diagnosed based on serum creatinine concentration levels according to the KDIGO (Kidney Disease Improving Global Outcomes) guidelines. We compared patients with and without AKI in terms of mortality and functional outcome (assessed with modified Rankin scale, mRS) at discharge, and at 90 and at 365 days from stroke onset. Good functional outcome was defined as mRS 0-2. We identified factors associated with mortality and a good functional outcome using univariate logistic regression analysis, with statistically significant variables subsequently included into multivariate analyses.

Results: Among 593 MT-treated AIS patients, AKI was found in 12.6%. Patients with AKI had significantly higher mortality and worse functional outcome at discharge, and at 90, and at 365 days from stroke onset. AKI was an independent factor associated with mortality and worse functional outcome at discharge, and at 90, and at 365 days from stroke onset. AKI remained independently associated with a lower chance of a good functional outcome in a 365-day follow-up when the analysis was limited to patients who survived until discharge (OR = 0.244, 95% CI: 0.095-0.624, p = 0.003).

Conclusions and clinical implications: AKI during hospitalisation is an independent risk factor of short- and long-term mortality and poor functional outcome in patients with AIS undergoing MT. There is a need to create a protocol to monitor kidney function and ensure prompt AKI treatment in MT-treated AIS patients.

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引用次数: 0
Differences in prevalence of orthostatic hypotension between Parkinson's Disease motor subtypes.
IF 2.9 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-02-27 DOI: 10.5603/pjnns.104615
Panteleimon Oikonomou, Jiri Koschel, Christian F Altmann, Wolfgang H Jost
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引用次数: 0
Family report of Birk-Barel syndrome - a neurodevelopmental channelopathy with epigenetic signature.
IF 2.9 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-02-26 DOI: 10.5603/pjnns.104700
Dorota Piekutowska-Abramczuk, Maria Jędrzejowska, Elżbieta Ciara, Dorota Jurkiewicz, Paulina Halat-Wolska, Marlena Młynek, Krystyna Chrzanowska, Rafał Płoski, Agnieszka Madej-Pilarczyk
{"title":"Family report of Birk-Barel syndrome - a neurodevelopmental channelopathy with epigenetic signature.","authors":"Dorota Piekutowska-Abramczuk, Maria Jędrzejowska, Elżbieta Ciara, Dorota Jurkiewicz, Paulina Halat-Wolska, Marlena Młynek, Krystyna Chrzanowska, Rafał Płoski, Agnieszka Madej-Pilarczyk","doi":"10.5603/pjnns.104700","DOIUrl":"https://doi.org/10.5603/pjnns.104700","url":null,"abstract":"","PeriodicalId":19132,"journal":{"name":"Neurologia i neurochirurgia polska","volume":" ","pages":""},"PeriodicalIF":2.9,"publicationDate":"2025-02-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143502869","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
Does botulinum toxin type A treatment influence non-motor symptoms in cervical dystonia patients? A systematic review. A 型肉毒毒素治疗会影响颈肌张力障碍患者的非运动症状吗?系统综述。
IF 2.9 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-02-14 DOI: 10.5603/pjnns.102672
Małgorzata Dudzic, Anna Pieczyńska, Artur Drużdż, Katarzyna Hojan

The effect of botulinum toxin A (BoNTA) on non-motor symptoms (NMS) in patients with cervical dystonia remains an area of significant clinical interest, given the profound impact of these symptoms on patients' quality of life. While the therapeutic efficacy of BoNTA in alleviating motor symptoms of cervical dystonia is well established, its impact on NMS such as depression, anxiety disorder, and sleep disturbance requires further investigation. This systematic review synthesizes the latest evidence on the effects of BoNTA on these selected non-motor symptoms. A comprehensive search of the PubMed, Web of Science, and Scopus databases identified 266 articles, of which eight studies met our strict inclusion criteria. Pre- and post-intervention changes in depression, anxiety, and sleep disturbance were assessed in a total of 280 adult patients with cervical dystonia treated with BoNTA. The results indicate that BoNTA has a positive effect on depressive symptoms, with most studies showing a statistically significant improvement after treatment. Similarly, studies are reporting significant reductions in anxiety scores following BoNTA treatment. However, the effects of this treatment method on sleep disturbances were less conclusive, with none of the reviewed studies showing significant improvements in sleep quality or daytime sleepiness. The results highlight the potential of BoNTA to positively influence non-motor symptoms, particularly depression and anxiety, in patients with cervical dystonia, although its effects on sleep remain unclear. These findings underscore the need for further research to fully understand the mechanisms underlying the non-motor effects of BoNTA and to develop comprehensive treatment strategies.

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引用次数: 0
Is remission in women with idiopathic generalized epilepsy possible without valproate?
IF 2.9 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-02-14 DOI: 10.5603/pjnns.103380
Kamil Wężyk, Agnieszka Słowik, Magdalena Bosak

Aim of study: This study aimed to evaluate changes in prescription practices for treating idiopathic generalized epilepsy (IGE) in women of childbearing age, and to assess how switching from valproate (VPA) affects seizure outcomes. IGE accounts for 15-20% of all epilepsy cases. While VPA is the most effective treatment, its teratogenic risk limits its use in women of reproductive age, leading to recommendations for safer alternatives such as lamotrigine (LTG) and levetiracetam (LEV).

Material and methods: We retrospectively analysed the data from 130 women aged 18-49 diagnosed with IGE from 2000 to 2022.

Results: Of the 107 who used VPA, 44 remained on it until the last follow-up. 74% of participants achieved seizure freedom at some point, and 62% remained seizure-free at the last follow-up. The attempt to switch from VPA to other medications was unsuccessful in 23 (21.5% out of 107) patients due to adverse effects or loss of seizure control. Seizure freedom rates after 12 months were similar between VPA and alternative ASMs like LEV and LTG.

Conclusions and clinical implications: Our study indicates that LEV and LTG are effective alternatives to VPA for many women with IGE. However, some patients still require VPA for optimal seizure control. Further large-scale, randomised studies are needed to confirm these findings.

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引用次数: 0
Role of neuroinflammation factors as potential biomarkers of epilepsy: a narrative review.
IF 2.9 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-02-14 DOI: 10.5603/pjnns.102426
Marta Zawadzka, Marta Pietruszka, Magdalena Krygier, Maria Mazurkiewicz-Bełdzińska

Epilepsy is a common neurological condition with a significant socioeconomic impact. Approximately one in three patients is resistant to the available therapies, and the mechanisms of this resistance are often unclear. Neuroinflammation, recognised as a potential cause of drug-resistant epilepsy, plays a key role in modulating synaptic transmission and hyperexcitability. In this narrative review, we explore the molecular basis of neuroinflammation in epilepsy and its potential as a source of biomarkers for diagnosis and treatment. Evidence from human and animal studies indicates a strong association between neuroinflammation and epilepsy, with significant involvement of pro-inflammatory molecules and blood-brain barrier dysfunction. We highlight the roles of microglia, astrocytes and inflammatory molecules in epilepsy, suggesting that targeted anti-inflammatory therapies could be promising for treatment. Further research is needed to fully understand the role of neuroinflammation in epilepsy and to develop new therapeutic approaches.

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引用次数: 0
Patterns of antiseizure medication use in pregnant women with epilepsy: a 24-year observation in Poland.
IF 2.9 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-02-13 DOI: 10.5603/pjnns.102936
Joanna Jędrzejczak, Beata Majkowska-Zwolińska

Aim of study: The aim of this study was to examine trends in the usage of antiseizure medications (ASM) in pregnant women with epilepsy (WWE) in Poland across 24 years.

Clinical rationale for study: Most WWE continue ASM treatment during pregnancy. Over recent decades, third-generation ASMs with different safety profiles have become available. Understanding the long-term trends could provide valuable information for improving clinical practice guidelines.

Material and methods: The study is based on prospectively collected data from an institutional database of a tertiary epilepsy centre between 2000 and 2024. Data on ASM use during pregnancy was recorded at conception and each trimester. Trends in ASM use in monotherapy and polytherapy were analysed. The study included 1,454 completed pregnancies with a known outcome and a mean maternal age of 28.99 years.

Results: WWE were exposed to 19 different ASMs in monotherapy or polytherapy. Lamotrigine (LTG), valproate (VPA), carbamazepine (CBZ) and levetiracetam (LEV) accounted for 82% of all ASMs. Between 2000 and 2024, there was a statistically significant decrease in the usage of CBZ (Exp(B) = 0.92; p < 0.001; 8% annually) and of VPA (Exp(B) = 0.95; p = 0.005, 5% annually) and an increase in the use of LTG (Exp(B) = 1.03; p = 0.086; 3% annually) and of LEV (Exp(B) = 1.19; p < 0.001; 19% annually). More than two-thirds of the women were on monotherapy, both at conception and throughout pregnancy. WWE not exposed to ASMs accounted for 13.9% at conception and 10.5% in all trimesters. There was a significant increase in the number of women receiving polytherapy across all trimesters over time (Exp(B) = 1.02; p = 0.052; 2% annually) and a decrease in untreated women across all trimesters over time (Exp(B) = 0.97; p = 0.033; 3% annually). The mode of treatment at conception did not change statistically over time.

Conclusions/clinical implications: The use of specific ASMs h as c hanged s ignificantly in th e 21 st ce ntury, wi th a no table decrease in the usage of CBZ and VPA in favour of LEV and LTG. There is an increasing trend towards polytherapy across all trimesters, but not at the conception point.

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引用次数: 0
Neurotoxicity of levodopa/carbidopa intestinal gel preparations can cause polyneuropathy in Parkinson's Disease patients.
IF 2.9 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-01-30 DOI: 10.5603/pjnns.104394
Josef Finsterer
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引用次数: 0
Long-term effect and reasons for switching and combining device-aided therapies in Parkinson's Disease. 帕金森病器械辅助治疗转换和联合治疗的长期效果及原因
IF 2.9 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-01-09 DOI: 10.5603/pjnns.102858
Dejan Georgiev, Maja Trost

Introduction: In the advanced stages of Parkinson's disease (PD), when standard drug adjustments fail to sufficiently improve patients' quality of life, device-aided therapies (DATs) such as deep brain stimulation (DBS), continuous subcutaneous apomorphine infusion (CSAI), levodopa-carbidopa intestinal gel infusion (LCIG), levodopa-carbidopa-entacapone intestinal gel infusion, or continuous subcutaneous foslevodoa-foscarbidopa infusion are beneficial in the long run. However, sometimes patients need to switch or combine DATs due to either adverse events or loss of efficacy.

Aim of study: The aim of this article was to summarise the existing data on the long-term efficacy and adverse events of DATs, and to review the data on the rationale and efficacy for switching or combining DATs in advanced PD.

State of the art: A total of 50 studies on the long-term efficacy of DBS (N = 28), LCIG (N = 12), CSAI (N = 10) and 13 studies on switching and combining DATs were included in this review. Although the DATs show a favourable long-term effect on the main motor and non-motor symptoms of PD they all feature specific adverse events that need to be considered when deciding which DAT to offer to a particular patient. Occasionally, switching or combining DATs is recommended, e.g. if the first DAT shows inadequate symptom control, or due to adverse events. The choice of the second DAT depends above all on the main problems of the first DAT being correctly recognised.

Clinical implications: DATs are a safe and long-term effective option for the treatment of advanced PD. Switching and/or combining DATs is recommended for patients in whom the first treatment option is not optimal.

Future directions: Future studies are warranted to address the unresolved issues related to long-term efficacy, side effect profile and switching and combination of DATs in multicentric studies and using advanced analytical approaches such as machine learning.

在帕金森病(PD)晚期,当标准药物调整不能充分改善患者的生活质量时,设备辅助治疗(DATs)如脑深部电刺激(DBS)、持续皮下阿波啡输注(CSAI)、左旋多巴-卡比多巴肠凝胶输注(LCIG)、左旋多巴-卡比多巴-恩他卡彭肠凝胶输注或持续皮下foslevodoa-foscarbidopa输注是有益的。然而,有时由于不良事件或疗效丧失,患者需要切换或联合使用DATs。研究目的:本文的目的是总结现有的DATs的长期疗效和不良事件的数据,并回顾DATs转换或联合治疗晚期PD的基本原理和疗效的数据。目前的研究现状:本综述共纳入了50项关于DBS (N = 28)、LCIG (N = 12)、CSAI (N = 10)和13项关于转换和联合dat的研究。尽管DAT对帕金森病的主要运动和非运动症状有良好的长期效果,但在决定为特定患者提供哪种DAT时,它们都有特定的不良事件需要考虑。偶尔,建议切换或联合使用DAT,例如,如果第一次DAT显示症状控制不足,或由于不良事件。第二种数据的选择首先取决于正确识别第一种数据的主要问题。临床意义:dat是治疗晚期PD的一种安全、长期有效的选择。对于第一种治疗方案不理想的患者,建议切换和/或联合使用dat。未来方向:未来的研究需要解决与长期疗效、副作用、多中心研究中dat的转换和组合相关的未解决问题,并使用先进的分析方法,如机器学习。
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Neurologia i neurochirurgia polska
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