Jarosław Sławek

• Head of Department at University of Gdańsk

Atherosclerosis is a systemic disease and involves not only the coronary vessels but also occurs in other vascular beds (e.g., cervical, cerebral, and peripheral vessels), increasing cardiovascular risk. One of the causes of atherosclerosis is lipid disorders. In addition, other diseases, such as diabetes, chronic kidney disease, or familial hyperc...

Aim of study: To investigate the treatment strategies of Parkinson's Disease (PD) among movement disorder specialists in tertiary centres in Poland, and how literature warnings (levodopa and dopamine agonist phobia) have influenced their practice. Material and methods: The survey was conducted between 30 November, 2020 and 18 October, 2021, in f...

Common variable immunodeficiency (CVID) is a primary immunodeficiency disorder characterized by decreased or undetectable serum levels of immunoglobulin G (IgG), decreased levels of IgA isotypes, and poor specific antibody production in response to vaccines and pathogens. Owing to hypogammaglobulinemia, patients have increased susceptibility to inf...

Mutations in the PINK1 and PRKN genes are the most frequent genetic cause of early-onset Parkinson disease. The pathogenic p.R275W substitution in PRKN is the most frequent substitution observed in patients, and thus far has been characterized mostly through overexpression models that suggest a possible gain of toxic misfunction. However, its effec...

Background Levodopa-carbidopa intestinal gel (LCIG) is a continuously delivered Parkinson's disease therapy intended to stabilize plasma levodopa levels. Patients receiving LCIG require education and follow-up. Some LCIG support programs use video-assisted telenursing. Objective To examine how videoconferencing impacts satisfaction with LCIG suppo...

Parkinson’s disease (PD) is a common neurodegenerative disease characterized by motor and non-motor symptoms including cognitive impairment and dementia. The etiopathogenesis of PD, as well as its protective and susceptibility factors, are still elusive. 3-Hydroxy-3-methyglutaryl coenzyme A reductase (HMGCR) is an enzyme regulating cholesterol synt...

Introduction: According to the current Parkinson's Disease (PD) pathogenesis hypotheses, the vagus nerve (VN) is essential for disease development. It has been identified as a main entry point for misfolded α-synuclein to the central nervous system, and surgical vagotomy appears to limit disease progress both in animal models and in humans. A rece...

Huntington’s disease (HD) is a hereditary neurodegenerative disorder caused by the extension of the CAG repeats in exon 1 of the HTT gene and is transmitted in a dominant manner. The present study aimed to assess whether patients’ sex, in the context of mutated and normal allele length, contributes to age on onset (AO) of HD. The study population c...

Benign hereditary chorea (BHC) is an inherited neurological disorder consisting of childhood-onset, nonprogressive chorea, generally without any other manifestations. In most reported cases, the inheritance of BHC is autosomal dominant but both incomplete penetrance and variable expressivity are observed and can be caused by NKX2-1 mutations. The s...

Introduction: Subtle abnormalities in the preclinical stage of Huntington's Disease (HD) can be detected using saccadic eye movement assessment reflecting disease progression. This study was aimed to evaluate abnormalities in saccade parameters in asymptomatic carriers and symptomatic HD patients at various stages of HD. Material and methods: Th...

Implantable loop recorders (ILR) are considered increasingly helpful in diagnosing cardio-neurological conditions, especially if arrhythmic events are of high clinical importance but are unlikely to be captured by standard methods of electrocardiogram recording due to the low frequency of events and short duration of a single event. The compelling...

Padaczka jest w Polsce diagnozowana i leczona na wysokim poziomie, jednak 30 proc. chorych cierpi na padaczkę lekooporną, wymagającą dostosowania terapii farmakologicznej lub operacyjnej. Aby zoptymalizować model diagnostyki i leczenia padaczki, należy zdefiniować ścieżkę diagnostyczno-terapeutyczną pacjenta oraz kryteria i zadania sieci ośrodków r...

Estrogens function in numerous physiological processes including controlling brain cell growth and differentiation. 2-Methoxestradiol (2-ME2), a 17β-estradiol (E2) metabolite, is known for its anticancer effects as observed both in vivo and in vitro. 2-ME2 affects all actively dividing cells, including neurons. The study aimed to determine whether...

This article provides an overview of the various screening and selection tools which have been developed over the past 25 years to identify patients with Parkinson’s disease (PD) possibly eligible for device-aided therapies (DATs). For the available screening tools, we describe the target therapies (subtypes of DAT), development methods, validation...

Introduction: We present the first two Polish families diagnosed with spinocerebellar ataxia type 7 (SCA7) and draw attention to cardiac involvement as a new potential manifestation of this disease. Material and methods: Two well-documented kindreds are presented. Results: The proband from Family 1 presented aged 54 years with vision worsening...

Background and purpose: Neuromyelitis optica spectrum disorders are a group of autoimmune diseases leading to severe visual and motor impairment with a median disease onset at 39 years. Materials and methods: We present a case series of four AQP4-Ab positive neuromyelitis optica spectrum disorders patients, with a median age at onset of 67 years (r...

Background: Perry disease (or Perry syndrome [PS]) is a hereditary neurodegenerative disorder inevitably leading to death within few years from onset. All previous cases with pathological confirmation were caused by mutations within the cytoskeleton-associated protein glycine-rich (CAP-Gly) domain of the DCTN1 gene. Objectives: This paper presents...

https://ksiegarnia.pwn.pl/Alkohol-i-czlowiek-toksyczny-zwiazek,1009351970,p.html?gclid=Cj0KCQjwxYOiBhC9ARIsANiEIfaN53hPY7WmYpWsvXjQ07418uR1dKvUj_X-ejPrLamco7rzmqafngoaAgTgEALw_wcB#details

Background: Coronavirus disease 2019 (COVID-19) is an infectious disease mainly affecting the respiratory system; however, a significant prevalence of neurological symptoms has been noted. Objectives: To investigate the incidence and characteristics of post-COVID-19 parkinsonism and to study dyskinesia related to COVID-19 vaccines. Material and...

The aim of this review was to summarise current knowledge regarding hyperkinetic movement disorders related to SARS-CoV-2 infection and vaccination in terms of phenomenology, epidemiology, pathogenesis and treatment. After a thorough review of the PubMed and Google Scholar databases (2020-2022), we identified myoclonus and ataxia sometimes accompan...

Polyneuropathy (PNP) is a known complication of levodopa-carbidopa intestinal gel (LCIG) therapy of advanced Parkinson's Disease (PD). The overall prevalence of PNP in PD is estimated to be 42.1% (as shown in a review by Romagnolo et al. 2018), and the most common type is chronic axonal polyneuropathy. There is a group of acute/subacute onset demye...

Our aim was to analyze the phenotypic-genetic correlations in a patient diagnosed with early onset corticobasal syndrome with progressive non-fluent aphasia (CBS-PNFA), characterized by predominant apraxia of speech, accompanied by prominent right-sided upper-limb limb-kinetic apraxia, alien limb phenomenon, synkinesis, myoclonus, mild cortical sen...

Spinocerebellar ataxia type 3 (SCA3; Machado-Joseph disease, MJD) is the most common autosomal-dominant form of genetic ataxia worldwide. However, it has never been reported in Eastern Europe. This letter presents the first three families with SCA3 from Poland and discusses the practical implications of the disease for clinicians.

Background After more than 2 years of the pandemic, effective treatment for COVID-19 is still under research. In recent months, publications hypothesized amantadine's potential beneficial effect on SARS-CoV-2 infection. Objective To compare the groups of Parkinson's Disease (PD) patients who were administered amantadine chronically and those who d...

Aim: The aim of this study was to evaluate the efficacy of ultrasound guidance (US) in the treatment of cervical dystonia (CD) with botulinum neurotoxin type A (BoNT-A) injections in comparison to anatomical landmarks (AL). To date, US is routinely used in many centers, but others deny its usefulness. Materials and Methods: Thirty-five patients (12...

Background Huntington’s disease (HD) patients tend to underestimate chorea. Aims The study aimed at assessing the anticipatory and emergent awareness of motor impairment in HD. Methods 29 HD patients (aged 56±11 years with the median Unified Huntington’s Disease Rating Scale total motor score – UHDRS TMS of 42) completed the Nine Hole Peg Test (t...

Introduction The study aimed at evaluating the effect of subthalamic deep brain stimulation (DBS-STN) on restless legs syndrome (RLS) in Parkinson's disease (PD) patients. Materials and Methods We assessed the presence of RLS before, 6 and 12 months after surgery in 36 patients. Differences between patients with RLS, without RLS, and with remissio...

Leigh syndrome (LS) is a progressive neurodegenerative disease, characterized by extensive clinical, biochemical, and genetic heterogeneity. Recently, biallelic variants in DNAJC30 gene, encoding a protein crucial for the repair of mitochondrial complex I subunits, have been associated with Leber hereditary optic neuropathy and LS. It was suggested...

Introduction: Huntington's Disease (HD) is an autosomal dominant neurodegenerative disorder. Substantial for a diagnosis of the disease are motor disorders, with chorea as a hallmark symptom. Other disease manifestations include cognitive dysfunction and psychiatric disorders. Currently, pharmacological treatment plays the most important role in t...

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Zespół Perry’ego jest autosomalnie dominującą chorobą neurodegeneracyjną, charakteryzującą się parkinsonizmem, objawami neuropsychiatrycznymi (głównie depresją i apatią), zaburzeniami oddechowymi i zmniejszeniem masy ciała. Choroba jest spowodowana patogennymi mutacjami w eksonie 2 genu DCTN1, a w badaniach neuropatologicznych wyróżnia się nieprawi...

Parkinson’s disease (PD) is generally considered a sporadic disorder, but a strong genetic background is often found. The aim of this study was to identify the underlying genetic cause of PD in two affected siblings and to subsequently assess the role of mutations in Cathepsin B (CTSB) in susceptibility to PD. A typical PD family was identified and...

Introduction A marked response to l-Dopa and l-Dopa-induced dyskinesia (LID) make the diagnosis of Parkinson's disease (PD) highly likely. This paper evaluates response to l-Dopa in Perry syndrome (PS), parkinsonism with distinct molecular and neuropathologic characteristics. Methods Six patients with PS with a mean follow-up of 5 years (0.5–12) w...

Parkinson’s disease (PD) and progressive supranuclear palsy (PSP) are neurodegenerative movement disorders associated with cognitive dysfunction. The Luria’s Alternating Series Test (LAST) is a clinical tool sensitive to both graphomotor problems and perseverative tendencies that may suggest the dysfunction of prefrontal and/or frontostriatal areas...

Migrena i depresja często współwystępują, stanowiąc ważny problem kliniczny. Oba zaburzenia związane są z koniecznością przewlekłego leczenia, a ich wzajemne współwystępowanie sprzyja zjawisku lekooporności. Wpływając na funkcjonowanie pacjentów powodują także liczne konsekwnecje społeczne - oddziałując na jakość życia i realizację celów osobistych...

Cannabis and cannabinoids are often considered in the treatment of Parkinson's Disease (PD). The purpose of this paper was to perform a systematic review of the available data on cannabis treatment. We aimed to assess randomised trials as well as surveys among patients. We identified 569 papers on PD and cannabinoid treatment. Of these, there were...

Improvement of the diagnostic and therapeutic processes and optimal use of resources in the context of health care system specificity accelerate the diagnosis and treatment onset, as well as improve the quality of life of patients with multiple sclerosis. International experience and data from clinical practice in Poland gave rise to a number of gu...

We have performed whole-genome sequencing to identify the genetic variants potentially contributing to the early-onset semantic dementia phenotype in a patient with family history of dementia and episodic memory deficit accompanied with profound semantic loss. Only very rare variants of unknown significance (VUS) have been identified: a nonsense va...

Background: Huntington's disease (HD) is a rare neurodegenerative disorder with protean clinical manifestations. Its management is challenging, consisting mainly of off-label treatments. Objectives: The International Parkinson and Movement Disorder Society commissioned a task force to review and evaluate the evidence of available therapies for H...

The multiple sclerosis patient’s journey in Poland was described based on the data collected by the Therapeutic Programme Monitoring System (System Monitorowania Programów Terapeutycznych, SMPT) between 2014 and 2018 and a National Health Fund (Narodowy Fundusz Zdrowia, NFZ) report entitled “NFZ on Health. Multiple Sclerosis.” It was found that abo...

Introduction: Neuroimaging play an increasingly important role in the diagnosis of parkinsonian syndromes. Aim of the study: In this paper, the authors elaborate on the necessity of using magnetic resonance imaging (MRI) in Parkinson's Disease (PD) and its potential role in differential diagnosis versus other neurodegenerative parkinsonian syndr...

Background and aims The data on the prevalence of the Restless Legs Syndrome/Willis -Ekbom disease (RLS/WED) in the population of teenagers is scarce. The aim of this study was to determine RLS/WED occurrence in adolescents, its diagnostic accuracy, family history, clinical characteristics and impact on everyday functioning. Material and methods A...

Raport powstał z inicjatywy Polskiego Towarzystwa Neurologicznego we współpracy z Instytutem Zarządzania w Ochronie Zdrowia Uczelni Łazarskiego. Opracowanie to jest efektem wielomiesięcznej pracy szerokiego grona ekspertów klinicznych, reprezentujących ośrodki z całego kraju, przedstawicieli organizacji pacjenckich, a także ekspertów systemowych. W...

Migraine is a common primary headache disease, which reduces quality of life. About 8% of migraineurs suffer from chronic migraine (CM), which is the most severe and troublesome type. It has been proven that onabotulinumtoxinA (ONA-BoNT/A) significantly improves CM, presumably inhibiting the release of calcitonin gene-related peptide (CGRP) and oth...

Migraine is a common primary headache disease, which reduces quality of life. About 8% of migraineurs suffer from chronic migraine (CM), which is the most severe and troublesome type. It has been proven that onabotulinumtoxinA (ONA-BoNT/A) significantly improves CM, presumably inhibiting the release of calcitonin gene-related peptide (CGRP) and oth...

Background Perry disease (or Perry syndrome) is an autosomal dominant neurodegenerative disorder characterized by parkinsonism, neuropsychiatric symptoms, central hypoventilation, weight loss, and distinct TDP-43 pathology. It is caused by mutations of the DCTN1 gene encoding an essential component of axonal transport. Objectives To provide the cu...

„Logopedia Silesiana”, t. 10, nr 1, ISSN 2391‑4297 https://doi.org/10.31261/LOGOPEDIASILESIANA.2021.10.01.03 pp. 1–17: English language version; pp. 18–35: Polish language version In the clinical presentation of dementia with Lewy bodies (DLB), speech and communication disorders coexist with cognitive deficits. Discourse is impaired both at the sy...

Background Renin-angiotensin system (RAS) influences the central nervous system not only through its peripheral impact—the brain possesses its own local RAS. Studies showed altered RAS components in Parkinson’s disease (PD) and their association with oxidative stress which may be linked to neurodegeneration and dementia. Moreover, the protective fu...

Debata ekspercko- systemowa odnosząca się do nowych możliwości terapeutycznych oraz poprawy modelu opieki w chorobach mózgu. An expert and systemic debate relating to new therapeutic possibilities and improvement of the model of care in brain diseases. ISBN: 978-83-961477-1-4 https://medycznaracjastanu.pl/wp-content/uploads/2021/07/RAPORT_CHOROBY_M...

Introduction: Deep brain stimulation (DBS) therapy for Parkinson's Disease (PD) and dystonia is associated with the possibility of both minor and major complications. One possible side effect is the depletion of implantable pulse generator (IPG) battery and the associated sudden recurrence of PD or dystonia symptoms, which can be potentially life-...

Dementia in advanced Parkinson's Disease (PD) is a fatal milestone resulting in reduced life expectancy and nursing home placement. Cognitive impairment and cardiovascular dysautonomia are common and debilitating non-motor symptoms that frequently coexist in PD since the early stages and progress in subsequent years. In particular, blood pressure (...

Aim of study: The pandemic state of COVID-19 has resulted in new neurological post-infection syndromes. Recently, several papers have reported ataxia-myoclonus syndrome following SARS-CoV-2 infection. The aim of this study was to present our two cases and compare them to previously reported cases. Materials and methods: We present two video-acco...

The introduction of botulinum toxin more than 25 years ago for the management of paediatric lower and upper limb hypertonia has been a major advance. BoNT-A as a part of multimodal treatment supports motor development and improves function disturbed by spasticity or hypertonia. The aim of this paper was to compare the efficacy and safety of three m...

Cervical dystonia (CD) usually presents a complex pattern of head/neck movements accompanied by tremor, myoclonic jerks and a wide spectrum of non-motor disturbances such as pain, depression, anxiety, and sleep problems. This is the most challenging indication for botulinum neurotoxin (BoNT) treatment. It can offer significant improvement, but it c...

The growing number of Botulinum neurotoxin type A (BoNT/A) preparations on the market has resulted in a search for pharmacological, clinical and pharmacoeconomic differences. Patients are occasionally switched from one botulinum toxin formulation to another. The aim of this paper was to review studies that have made direct comparisons of the three...

Botulinum neurotoxin type A (BoNT/A) formulations are widely used in clinical practice. Although they share a common mechanism of action resulting in presynaptic block in acetylocholine release, their structure and pharmacological properties demonstrate some similarities and many differences. Bioequivalence has been discussed since the onset of the...

Introduction Approximately 10% of patients with Parkinson disease (PD) present with early-onset disease (EOPD), defined as diagnosis before 50 years of age. Genetic factors are known to contribute to EOPD, with most commonly observed mutations in PRKN, PINK1, and DJ1 genes. The aim of our study was to analyze the frequency of PRKN, PINK1, and DJ1 m...

Dementia is one of the most disabling non-motor symptoms in Parkinson’s disease (PD). Unlike in Alzheimer’s disease, the vascular pathology in PD is less documented. Due to the uncertain role of commonly investigated metabolic or vascular factors, e.g., hypertension or diabetes, other factors corresponding to PD dementia have been proposed. Associa...

Mitochondria, as “power house of the cell”, are crucial players in cell pathophysiology. Beyond adenosine triphosphate (ATP) production, they take part in a generation of reactive oxygen species (ROS), regulation of cell signaling and cell death. Dysregulation of mitochondrial dynamics may lead to cancers and neurodegeneration; however, the fusion/...

Background: In 2008, the Movement Disorders Society published the Unified Dyskinesia Rating Scale (UDysRS). This has become the established tool for assessing the severity and disability associated with dyskinesia in patients with Parkinson's Disease (PD). We translated and validated the Polish version of the UDysRS, explored its dimensionality, a...

Background: Establishing the diagnosis of Huntington's disease (HD) involves molecular genetic testing and estimation of the number of CAG repeats. Material and methods: We report a 42-year-old patient with clinical phenotype suggestive of HD, who was repeatedly negative on genetic testing for HD at a reference laboratory. He had positive histor...

Logopedia Silesiana 2020