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1. Effects of Isotretinoin treatment on human body - review

Author

Adam Słomczyński, Piotr Zatyka, Agata Pawłowska, Michal Rabenda, Piotr Janik, Dobromiła Osuch, and Dominika Opala

Subjects
retinoids, isotretinoin, acne, 13-cis-retinoic acid, Sports, GV557-1198.995, Sports medicine, RC1200-1245
Abstract

Introduction: Isotretinoin (13-cis-Retinoic Acid) is a part of the retinoid group, and is used in dermatology for the treatment of acne, due to its demonstrated inhibitory effect on sebaceous gland activity and proliferation. Isotretinoin is a highly lipophilic drug, for this reason taking it with food, doubles the bioavailability of the substance, during systemic treatment. Isotretinoin as a drug has been used effectively for more than 40 years in the treatment of acne, although its exact mechanism of action is not known. Objective: The objective of this study is to gather and analyze literature regarding the adverse effects of isotretinoin therapy on mental health and the digestive, cardiovascular, immune, urinary, and reproductive systems. Materials and Methods: A literature review was conducted using the PubMed database with the following search terms : retinoids, isotretinoin, acne, 13-cis-retinoic acid. Current Knowledge: Isotretinoin therapy has a vast spectrum of side effects affecting various systems of the human body. During the use of isotretinoin, special caution should be taken in patients with depression, lipid disorders, and abnormal liver function. In addition, in patients of childbearing age, make sure to use contraception one month before, during and one month after the end of isotretinoin therapy due to its teratogenicity. Conclusion: Isotretinoin is still the most effective drug in the systemic treatment of severe forms of acne, nevertheless its potential side effects should be kept in mind. Regular monitoring of patients should be a mainstay during isotretinoin therapy, especially with regard to lipid profile and liver parameters.

Published
2024
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2. Anti-inflammatory effects of selected dietary components on endometriosis - review

Author

Agata Pawłowska, Piotr Zatyka, Adam Słomczyński, Dominika Opala, Michal Rabenda, Dobromiła Osuch, and Piotr Janik

Subjects
endometriosis, pain, diet, polyphenols, resveratrol, curcumin, Sports, GV557-1198.995, Sports medicine, RC1200-1245
Abstract

Background: Endometriosis is a chronic inflammatory disorder that is among the most common gynaecological problems in women of reproductive age. The disease involves the presence of endometrial tissue outside the uterus, which manifests as pelvic pain and infertility. The main theory for its development suggests that endometrial cells move into the abdominal cavity during menstruation and implant there. This process leads to an increase in inflammatory cells and increased concentrations of cytokines, chemokines and prostaglandins, resulting in chronic inflammation. Objective: The aim of this work is to analyse in detail the available studies on the anti-inflammatory effects of selected dietary components such as polyphenols, vitamin D and omega-3 fatty acids. The work aims to evaluate their potential as future therapeutic options for the treatment of endometriosis, with a critical approach to their efficacy and possible application in the treatment of this disease. Materials and methods: A review of the literature available in the PubMed database was conducted using the following phrases in English: endometriosis, pain, diet, polyphenols, resveratrol, curcumin, vitamin D3, OMEGA-3 acids, polyunsaturated acids State of knowledge: Changing dietary patterns in patients with endometriosis may result in a reduction in levels of inflammatory markers, which are typically elevated in this disease. Polyphenols, such as resveratrol and curcumin, show anti-inflammatory effects and inhibit endometrial cell proliferation. Vitamin D3 shows anti-inflammatory effects and influences angiogenesis. Omega-3 fatty acids may reduce inflammation and endometrial proliferation. Conclusions: The literature review indicates that polyphenols, vitamin D3 and omega-3 fatty acids offer promising therapeutic properties for the treatment of endometriosis, with anti-inflammatory and proliferative, pain-relieving effects. Despite these promising results, further clinical trials are needed.

Published
2024
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3. Glucagon-like peptide-1 receptor agonists and derivatives in the treatment of obesity - review

Author

Michal Rabenda, Adam Słomczyński, Piotr Zatyka, Agata Pawłowska, Dominika Opala, Dobromiła Osuch, and Piotr Janik

Subjects
obesity, weight loss, GLP-1 receptor agonist, dual GLP-1/GIP receptor agonist, semaglutide, tirzepatide, Sports, GV557-1198.995, Sports medicine, RC1200-1245
Abstract

Abstract: Obesity is a chronic and insidious disease that represents a significant global. The World Health Organization has announced that almost 60% of European adults are overweight or obese. Complex hormonal and metabolic adaptations in obesity can prevent weight loss, despite changes in dietary and activity habits. Over the years, the number of anti-obesity drugs has been small and their efficacy has been inadequate, but powerful new drugs from the GLP-1 receptor agonists group have emerged. Studies indicate that drugs in the GLP-1 RA group can be effective in reducing weight in obese people both with and without diabetes. Several preparations are available on the market with varying efficacy and risk of side effects and new drugs are still being registered. Materials and Methods: Analysis of information on the treatment of obesity with GLP-1 receptor agonists using PubMed sources, including the epidemiology of obesity, types of GLP-1 RA drugs, their efficacy and safety. Aim: The aim of this publication was to gather the latest information on the treatment of obesity with GLP-1 receptor agonists. We wanted to present the epidemiology of obesity, the types of drugs, their efficacy and safety. Conclusions: Obesity is a significant problem in today's world and affects more than half of European adults. Drugs that are GLP-1 receptor agonists can effectively bridge the gap between behavioural strategies and bariatric surgery. Studies indicate that treatment with GLP-1 RAs can lead to significant weight loss in overweight and obese individuals compared to placebo, and tirzepatide appears to have the greatest efficacy. Keywords: obesity, weight loss, GLP-1 receptor agonist, dual GLP-1/GIP receptor agonist, semaglutide, tirzepatide.

Published
2024
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4. Use of Glucagon-like peptide 2 (GLP-2) analogs in inflammatory bowel disease

Author

Dobromiła Osuch, Piotr Zatyka, Adam Słomczyński, Agata Pawłowska, Michal Rabenda, Piotr Janik, and Dominika Opala

Subjects
GLP-2, inflammatory bowel disease, Crohn's disease, ulcerative colitis, short bowel syndrome, Sports, GV557-1198.995, Sports medicine, RC1200-1245
Abstract

Introduction: Inflammatory bowel disease (IBD) is a chronic condition that involves long-term treatment and chronic idiopathic inflammation within the gastrointestinal tract. The predominant forms of IBD are: Crohn's disease and ulcerative colitis. These diseases cause significant physical as well as psychological dysfunction - patients with this condition are thought to have an increased risk of depression as well as anxiety. Standard treatment for IBD most commonly includes aminosalicylates, corticosteroids, immunomodulatory drugs, and biologic therapy. In some cases, particularly when it comes to Crohn's disease, it is necessary to remove a portion of the inflamed bowel. Multiple segmental bowel resections can result in the rare but serious complication of short bowel syndrome, which leads to intestinal failure and necessitates parenteral nutrition. Glucagon-like peptide-2 exhibits intestinotropic properties and also acts as a growth factor in the gastrointestinal tract, thereby increasing intestinal perfusion, causing increased absorption of nutrients, and enhancing proliferative mechanisms while inhibiting apoptotic processes. Methods: We carefully reviewed the medical literature on inflammatory bowel disease, short bowel syndrome and the potential treatment of this condition with GLP-2 and its analogs. The materials for the analysis we presented came from the PubMed database. Conclusions: Glucagon-like peptide 2 (GLP-2) analogs may prove to be new treatments for short bowel syndrome (SBS). They exhibit growth-stimulating effects on the intestinal membrane and promote normal function.

Published
2024
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5. Vitamin B12 (cobalamin) deficiency in gastroenterological diseases - review

Author

Piotr Zatyka, Dominika Opala, Adam Słomczyński, Agata Pawłowska, Michal Rabneda, Dobromiła Osuch, and Piotr Janik

Subjects
Vitamin B12, cobalamin deficiency, gastrointestinal diseases, GERD, IBD, SIBO, Sports, GV557-1198.995, Sports medicine, RC1200-1245
Abstract

Introduction: Vitamin B12 is a water-soluble vitamin found primarily in animal-derived products such as red meat, dairy, and eggs. An essential substance for its absorption is the intrinsic factor, produced by the parietal cells of the stomach. After absorption in the distal ileum, cobalamin acts as a coenzyme in DNA synthesis and the metabolism of fatty acids and homocysteine. In addition to its well-known influence on the nervous system, it has been associated with gastrointestinal diseases according to numerous authors. Objective: The objective of this study is to gather and analyze literature regarding the associations between vitamin B12 deficiency and gastrointestinal diseases, including gastroesophageal reflux disease (GERD), gastritis, inflammatory bowel disease (IBD), small intestinal bacterial overgrowth (SIBO), and hepatitis C (HCV). Materials and Methods: A literature review was conducted using the PubMed database with the following search terms: vitamin B12, cobalamin, deficiency, gastrointestinal diseases, GERD, IBD, SIBO, HCV. Current Knowledge: Vitamin B12 deficiency can be caused by autoimmune factors, dietary insufficiencies, toxin exposure, and malabsorption disorders related to gastrointestinal diseases. Gastrointestinal conditions such as GERD and IBD can both lead to and be exacerbated by cobalamin deficiency. Furthermore, vitamin B12 deficiency may be worsened by prolonged use of proton pump inhibitors (PPIs) and Helicobacter pylori infection. Conclusions: An adequate amount of vitamin B12 is crucial for gastrointestinal health. Deficiency can significantly impact the course and symptoms of many gastrointestinal diseases. Therefore, monitoring and supplementation of vitamin B12 should be an integral part of managing patients with gastrointestinal conditions.

Published
2024
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6. Stein’s Anthropological Approach to the Humanities

Author

Piotr Janik

Subjects
lived experience, human experience, leibliche selbstgegebenheit, persönliche note, authenticity, value, empathy, existence, a-subjective dasein, edith stein, roman ingarden, martin heidegger, edmund husserl, max scheler, jan patočka, Philosophy. Psychology. Religion
Abstract

Should we approach the lived experience and/or understand the other with the sense of things? If this is the case, how are we to treat the human experience par excellence? Paradoxically, Edith Stein gives a fresh meaning to the Husserlian term “leibliche Selbstgegebenheit.” In contrast to Max Scheler’s account, she develops the “persönliche Note” criterion of authenticity. And against Maetin Heidegger’s existential philosophy, a concern for human existence itself resonates. Based on these three dimensions, this article discusses the idea of “the lived experience” according to Edith Stein, that is, the human experience contemplated by the humanities.

Published
2023
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7. Structural Variants and Implicated Processes Associated with Familial Tourette Syndrome

Author

Jakub P. Fichna, Mateusz Chiliński, Anup Kumar Halder, Paweł Cięszczyk, Dariusz Plewczynski, Cezary Żekanowski, and Piotr Janik

Subjects
tic disorders, copy number, CNV, duplication, inversion, polygenic, Biology (General), QH301-705.5, Chemistry, QD1-999
Abstract

Gilles de la Tourette syndrome (GTS) is a neurodevelopmental psychiatric disorder with complex and elusive etiology with a significant role of genetic factors. The aim of this study was to identify structural variants that could be associated with familial GTS. The study group comprised 17 multiplex families with 80 patients. Structural variants were identified from whole-genome sequencing data and followed by co-segregation and bioinformatic analyses. The localization of these variants was used to select candidate genes and create gene sets, which were subsequently processed in gene ontology and pathway enrichment analysis. Seventy putative pathogenic variants shared among affected individuals within one family but not present in the control group were identified. Only four private or rare deletions were exonic in LDLRAD4, B2M, USH2A, and ZNF765 genes. Notably, the USH2A gene is involved in cochlear development and sensory perception of sound, a process that was associated previously with familial GTS. In addition, two rare variants and three not present in the control group were co-segregating with the disease in two families, and uncommon insertions in GOLM1 and DISC1 were co-segregating in three families each. Enrichment analysis showed that identified structural variants affected synaptic vesicle endocytosis, cell leading-edge organization, and signaling for neurite outgrowth. The results further support the involvement of the regulation of neurotransmission, neuronal migration, and sound-sensing in GTS.

Published
2024
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8. Polygenic risk score-based phenome-wide association study identifies novel associations for Tourette syndrome

Author

Pritesh Jain, Tyne Miller-Fleming, Apostolia Topaloudi, Dongmei Yu, Petros Drineas, Marianthi Georgitsi, Zhiyu Yang, Renata Rizzo, Kirsten R. Müller-Vahl, Zeynep Tumer, Nanette Mol Debes, Andreas Hartmann, Christel Depienne, Yulia Worbe, Pablo Mir, Danielle C. Cath, Dorret I. Boomsma, Veit Roessner, Tomasz Wolanczyk, Piotr Janik, Natalia Szejko, Cezary Zekanowski, Csaba Barta, Zsofia Nemoda, Zsanett Tarnok, Joseph D. Buxbaum, Dorothy Grice, Jeffrey Glennon, Hreinn Stefansson, Bastian Hengerer, Noa Benaroya-Milshtein, Francesco Cardona, Tammy Hedderly, Isobel Heyman, Chaim Huyser, Astrid Morer, Norbert Mueller, Alexander Munchau, Kerstin J. Plessen, Cesare Porcelli, Susanne Walitza, Anette Schrag, Davide Martino, The Psychiatric Genomics Consortium Tourette Syndrome Working Group (PGC-TS), The EMTICS collaborative group, Andrea Dietrich, The TS-EUROTRAIN Network, Carol A. Mathews, Jeremiah M. Scharf, Pieter J. Hoekstra, Lea K. Davis, and Peristera Paschou

Subjects
Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
Abstract

Abstract Tourette Syndrome (TS) is a complex neurodevelopmental disorder characterized by vocal and motor tics lasting more than a year. It is highly polygenic in nature with both rare and common previously associated variants. Epidemiological studies have shown TS to be correlated with other phenotypes, but large-scale phenome wide analyses in biobank level data have not been performed to date. In this study, we used the summary statistics from the latest meta-analysis of TS to calculate the polygenic risk score (PRS) of individuals in the UK Biobank data and applied a Phenome Wide Association Study (PheWAS) approach to determine the association of disease risk with a wide range of phenotypes. A total of 57 traits were found to be significantly associated with TS polygenic risk, including multiple psychosocial factors and mental health conditions such as anxiety disorder and depression. Additional associations were observed with complex non-psychiatric disorders such as Type 2 diabetes, heart palpitations, and respiratory conditions. Cross-disorder comparisons of phenotypic associations with genetic risk for other childhood-onset disorders (e.g.: attention deficit hyperactivity disorder [ADHD], autism spectrum disorder [ASD], and obsessive-compulsive disorder [OCD]) indicated an overlap in associations between TS and these disorders. ADHD and ASD had a similar direction of effect with TS while OCD had an opposite direction of effect for all traits except mental health factors. Sex-specific PheWAS analysis identified differences in the associations with TS genetic risk between males and females. Type 2 diabetes and heart palpitations were significantly associated with TS risk in males but not in females, whereas diseases of the respiratory system were associated with TS risk in females but not in males. This analysis provides further evidence of shared genetic and phenotypic architecture of different complex disorders.

Published
2023
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9. Enhancing neuroimaging genetics through meta-analysis for Tourette syndrome (ENIGMA-TS): A worldwide platform for collaboration

Author

Peristera Paschou, Yin Jin, Kirsten Müller-Vahl, Harald E. Möller, Renata Rizzo, Pieter J. Hoekstra, Veit Roessner, Nanette Mol Debes, Yulia Worbe, Andreas Hartmann, Pablo Mir, Danielle Cath, Irene Neuner, Heike Eichele, Chencheng Zhang, Katarzyna Lewandowska, Alexander Munchau, Julius Verrel, Richard Musil, Tim J. Silk, Colleen A. Hanlon, Emily D. Bihun, Valerie Brandt, Andrea Dietrich, Natalie Forde, Christos Ganos, Deanna J. Greene, Chunguang Chu, Michel J. Grothe, Tamara Hershey, Piotr Janik, Jonathan M. Koller, Juan Francisco Martin-Rodriguez, Karsten Müller, Stefano Palmucci, Adriana Prato, Shukti Ramkiran, Federica Saia, Natalia Szejko, Renzo Torrecuso, Zeynep Tumer, Anne Uhlmann, Tanja Veselinovic, Tomasz Wolańczyk, Jade-Jocelyne Zouki, Pritesh Jain, Apostolia Topaloudi, Mary Kaka, Zhiyu Yang, Petros Drineas, Sophia I. Thomopoulos, Tonya White, Dick J. Veltman, Lianne Schmaal, Dan J. Stein, Jan Buitelaar, Barbara Franke, Odile van den Heuvel, Neda Jahanshad, Paul M. Thompson, and Kevin J. Black

Subjects
Tourette syndrome, neuroimaging, genetics, ENIGMA, brain MRI, Psychiatry, RC435-571
Abstract

Tourette syndrome (TS) is characterized by multiple motor and vocal tics, and high-comorbidity rates with other neuropsychiatric disorders. Obsessive compulsive disorder (OCD), attention deficit hyperactivity disorder (ADHD), autism spectrum disorders (ASDs), major depressive disorder (MDD), and anxiety disorders (AXDs) are among the most prevalent TS comorbidities. To date, studies on TS brain structure and function have been limited in size with efforts mostly fragmented. This leads to low-statistical power, discordant results due to differences in approaches, and hinders the ability to stratify patients according to clinical parameters and investigate comorbidity patterns. Here, we present the scientific premise, perspectives, and key goals that have motivated the establishment of the Enhancing Neuroimaging Genetics through Meta-Analysis for TS (ENIGMA-TS) working group. The ENIGMA-TS working group is an international collaborative effort bringing together a large network of investigators who aim to understand brain structure and function in TS and dissect the underlying neurobiology that leads to observed comorbidity patterns and clinical heterogeneity. Previously collected TS neuroimaging data will be analyzed jointly and integrated with TS genomic data, as well as equivalently large and already existing studies of highly comorbid OCD, ADHD, ASD, MDD, and AXD. Our work highlights the power of collaborative efforts and transdiagnostic approaches, and points to the existence of different TS subtypes. ENIGMA-TS will offer large-scale, high-powered studies that will lead to important insights toward understanding brain structure and function and genetic effects in TS and related disorders, and the identification of biomarkers that could help inform improved clinical practice.

Published
2022
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10. Blocking Tics in Gilles de la Tourette Syndrome

Author

Justyna Kaczyńska and Piotr Janik

Subjects
Gilles de la Tourette syndrome, Tourette disorder, blocking tics, blocking phenomena, negative motor phenomena, complex tics, Neurology. Diseases of the nervous system, RC346-429
Abstract

Introduction: Patients with Gilles de la Tourette syndrome (GTS) may experience blocking tics (BTs) defined as recurrent, brief cessations of motor acts. The aim of this study was to assess the prevalence, age of onset, and clinical correlates of BTs in GTS patients.Materials and Methods: We performed a one-time registration study in a cohort of 195 consecutive GTS patients aged 5–66 years (mean age: 15.0 ± 9.2; 47 females, 24.1%). All patients were personally interviewed and examined.Results: At least one BT occurred at some point in the lifetime of 73 patients (37.4%) with a mean age of onset of 10.4 ± 5.9 years. BTs occurred an average of 4.8 ± 5.3 years after tic onset. The most common BT was cessation of walking (n = 59, 80.8%), followed by speech (n = 19, 26.0%), running (n = 18, 24.7%), and writing (n = 9, 12.3%). Most of the patients (n = 52, 71.2%) reported cessation of only one activity. Clinical associations of BTs included more severe tics, overall greater number of tics, and, to a lesser extent, higher age at evaluation and comorbid obsessive-compulsive disorder.Conclusions: BTs represent complex tics, early and common symptoms of GTS, and are associated with a more severe form of GTS.

Published
2021
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11. Gilles de la Tourette syndrome: a common disease among uncommonly talented individuals?

Author

Natalia Szejko, Piotr Janik, and Tomasz Pasierski

Subjects
gilles de la tourette syndrome, famous individuals, creativity, history of medicine, Medicine
Abstract

Gilles de la Tourette syndrome is a neuropsychiatric condition of unknown cause. It consists in the occurrence of motor and vocal tics. Additionally, some psychiatric comorbidities, such as attention deficit hyperactivity disorder, obsessive-compulsive disorder, depression, anxiety disorder or autoaggression, can coexist with Gilles de la Tourette syndrome. In historical studies dedicated to Gilles de la Tourette syndrome, it was suggested that this disease occurred more frequently in talented individuals. This corresponds with speculations about other neuropsychiatric abnormalities, especially autistic spectrum disorders, epilepsy or personality disorders, being associated with outstanding performance in some areas of life. Numerous famous and talented individuals were influenced by their medical conditions, for example: Fyodor Dostoevsky is claimed to have suffered from epilepsy or psychogenic seizures, Robert Schumann is suspected to have had bipolar disorder, while Russian avant-garde composer and pianist Alexander Scriabin or pianist Clara Wieck-Schumann suffered from chronic pain which probably influenced their play. All of these diseases seem to have had a profound influence on the artistic experience of these individuals. Although the hypothesis about the influence of Gilles de la Tourette syndrome on the process of creativity and development of superb mental or performative qualities was later rejected, it seems that some famous and unique individuals could suffer from Gilles de la Tourette syndrome. Some of the well-known examples include: Wolfgang Amadeus Mozart, Samuel Johnson, Tim Howard or Peter the Great. Moreover, some celebrities, such as Kurt Cobain, were diagnosed with Gilles de la Tourette syndrome. Today, those speculations have been re-analysed, and it seems that in some cases the diagnosis of Gilles de la Tourette syndrome was not correct, and no direct influence between creativity, talent and Gilles de la Tourette syndrome could be detected. This article comprises reports on talents and creativity in Gilles de la Tourette syndrome and describes biographical facts that indicate a relationship between this syndrome and outstanding performance.

Published
2019
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12. Cathepsin B p.Gly284Val Variant in Parkinson’s Disease Pathogenesis

Author

Lukasz M. Milanowski, Xu Hou, Jenny M. Bredenberg, Fabienne C. Fiesel, Liam T. Cocker, Alexandra I. Soto-Beasley, Ronald L. Walton, Audrey J. Strongosky, Ayman H. Faroqi, Maria Barcikowska, Magdalena Boczarska-Jedynak, Jaroslaw Dulski, Lyuda Fedoryshyn, Piotr Janik, Anna Potulska-Chromik, Katherine Karpinsky, Anna Krygowska-Wajs, Tim Lynch, Diana A. Olszewska, Grzegorz Opala, Aleksander Pulyk, Irena Rektorova, Yanosh Sanotsky, Joanna Siuda, Mariusz Widlak, Jaroslaw Slawek, Monika Rudzinska-Bar, Ryan Uitti, Monika Figura, Stanislaw Szlufik, Sylwia Rzonca-Niewczas, Elzbieta Podgorska, Pamela J. McLean, Dariusz Koziorowski, Owen A. Ross, Dorota Hoffman-Zacharska, Wolfdieter Springer, and Zbigniew K. Wszolek

Subjects
Parkinson’s disease, familial forms, monogenic forms, CTSB, fibroblasts, Biology (General), QH301-705.5, Chemistry, QD1-999
Abstract

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 whole-exome sequencing was performed in two affected siblings. Variants of interest were validated using Sanger sequencing. CTSB p.Gly284Val was genotyped in 2077 PD patients and 615 unrelated healthy controls from the Czech Republic, Ireland, Poland, Ukraine, and the USA. The gene burden analysis was conducted for the CTSB gene in an additional 769 PD probands from Mayo Clinic Florida familial PD cohort. CTSB expression and activity in patient-derived fibroblasts and controls were evaluated by qRT-PCR, western blot, immunocytochemistry, and enzymatic assay. The CTSB p.Gly284Val candidate variant was only identified in affected family members. Functional analysis of CTSB patient-derived fibroblasts under basal conditions did not reveal overt changes in endogenous expression, subcellular localization, or enzymatic activity in the heterozygous carrier of the CTSB variant. The identification of the CTSB p.Gly284Val may support the hypothesis that the CTSB locus harbors variants with differing penetrance that can determine the disease risk.

Published
2022
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13. Association of a Variant of CNR1 Gene Encoding Cannabinoid Receptor 1 With Gilles de la Tourette Syndrome

Author

Natalia Szejko, Jakub Piotr Fichna, Krzysztof Safranow, Tomasz Dziuba, Cezary Żekanowski, and Piotr Janik

Subjects
Gilles de la Tourette syndrome, endocannabinoids, association study, CNR1 gene, CB1cannabinoid receptor 1, Genetics, QH426-470
Abstract

BackgroundGilles de la Tourette syndrome (GTS) is a neuropsychiatric disorder of unknown etiology, although a major role of genetic factors has been established. Cannabis-based medicines may alleviate GTS-associated tics and variants of CNR1 gene encoding central cannabinoid receptor (CB1) are believed to be a risk factor for the development of some neurodevelopmental diseases. Our aim was to test the association of selected CNR1 gene variants with GTS.Material and MethodsThe cohort of GTS cases comprised 262 unrelated patients aged 3–53 years (mean age: 18.3 ± 9.1 years; 204 males (77.9%), 126 (48.1%) adults defined as ≥18 years). As a control group we enrolled 279 unrelated, ethnically and gender matched individuals with no diagnosed mental, neurological or general disorder, aged 13–54 years (mean age: 22.5 ± 3.0 years; 200 males, (74.1%). Both study and control groups were selected from Polish population, which is ethnically homogenous subgroup of Caucasian population. Four single nucleotide polymorphisms (SNPs) in CNR1 were selected: rs2023239, rs2180619, rs806379, and rs1049353 based on minor allele frequency in general population >15%. These variants were genotyped using a real-time quantitative polymerase chain reaction system (TaqMan SNP genotyping assay).ResultsWe found significant association of GTS clinical phenotype with rs2023239 variant. Minor allele C and CT+CC genotypes were found significantly more often in GTS patients compared to controls (17.4 vs 11.1%, p=0.003 and 32.8 vs 20.4%, p=0.001, respectively), and the difference remained significant after correction for multiple testing. C allele of rs2023239 polymorphism of the CNR1 gene was associated with the occurrence of tics. There were no statistically significant associations for rs806379, rs1049353 or rs2180619 variants.ConclusionOur findings suggest that C allele of rs2023239 polymorphism of the CNR1 gene is a risk factor of GTS in Polish population. The variant can be potentially associated with abnormal endocannabinoid transmission, which is suspected to be one of the causes of GTS.

Published
2020
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14. Hemikraniektomia dekompresyjna w leczeniu związanego z udarem niedokrwiennym złośliwego obrzęku mózgu – przegląd badań klinicznych

Author

Andrzej Borysowicz and Piotr Janik

Subjects
udar niedokrwienny mózgu, złośliwy obrzęk mózgu, hemikraniektomia dekompresyjna, Medicine
Abstract

Rozległe udary niedokrwienne wynikające z zamknięcia tętnicy środkowej mózgu mogą prowadzić do rozwoju masywnego obrzęku mózgu i gwałtownego wzrostu ciśnienia śródczaszkowego. Zagrażający życiu złośliwy obrzęk mózgu, występujący u 1–10% chorych z udarami nadnamiotowymi, rozwija się zazwyczaj w okresie od drugiej do piątej doby po wystąpieniu objawów udaru. Często dotyczy młodszych pacjentów, bez wcześniejszych incydentów udarowych w wywiadzie. Klinicznie obserwuje się pogorszenie stanu świadomości towarzyszące głębokiemu deficytowi neurologicznemu. Tradycyjne sposoby leczenia zachowawczego są mało efektywne, wydaje się zatem, iż obiecującą strategią postępowania może być dekompresja neurochirurgiczna. W pracy dokonano przeglądu najważniejszych randomizowanych badań klinicznych i metaanaliz dotyczących tej metody leczenia. Wyniki badań wskazują, że u osób przed 60. rokiem życia hemikraniektomia wiąże się ze spadkiem śmiertelności, jednak wielu chorych wymaga stałej lub czasowej opieki. Efekty operacyjnego leczenia pacjentów po 60. roku życia są gorsze. Hemikraniektomia zwiększa co prawda przeżywalność, niemniej w znakomitej większości przypadków kosztem bardzo ciężkiej niepełnosprawności. Decyzja o przeprowadzeniu hemikraniektomii powinna być podejmowana ostrożnie, po przedstawieniu choremu i jego rodzinie rokowania co do przeżycia i prawdopodobnego złego stanu funkcjonalnego. Zgodnie z aktualnymi rekomendacjami nie ma natomiast podstaw, by wykluczać chorych z zabiegu ze względu na zajęcie półkuli dominującej.

Published
2017
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15. Cognitive Tic-Like Phenomena in Gilles de la Tourette Syndrome

Author

Piotr Janik, Anna Dunalska, Natalia Szejko, and Andrzej Jakubczyk

Subjects
Gilles de la Tourette syndrome, cognitive tic-like phenomena, coprolalia, echophenomena, obsessions, anxiety disorder, Medicine
Abstract

Coprolalia and echophenomena repeated in the patients’ mind (CTPh—cognitive tic-like phenomena) have been rarely recognized as part of Gilles de la Tourette syndrome (GTS) symptomatology and their assignment to tics, OCD or other psychopathologies has not been settled. The aim of the paper was to assess the incidence and clinical associations of CTPh in GTS, and to establish if CTPh belong to the tic spectrum. We performed a prospective, one-registration study on a cohort of 227 consecutive patients with GTS. CTPh were diagnosed during the interview and defined as brief, sudden, involuntary thoughts that had corresponding complex vocal tics. CTPh occurred at some point in the lives of 34 (15.0%) patients. The median age at onset of CTPh was 14.5 years (IQR: 10.5–17.5). CTPh were found more frequently in adults, with the most frequent onset in adolescence (44.1%). Four mental phenomena resembling tics were recognized: echolalia (n = 17), coprolalia (n = 16), palilalia (n = 13) and repeating of words in the mind (n = 7). The older the age of patients, the more severe tics, and anxiety disorder significantly correlated with CTPh. CTPh may be considered as a part of tic spectrum with a substantial impact of anxiety disorder. CTPh are a late and age-related symptom of GTS.

Published
2021
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16. Udar niedokrwienny mózgu z zakresu unaczynienia tętnicy Percherona imitujący niedrgawkowy stan padaczkowy

Author

Andrzej Borysowicz and Piotr Janik

Subjects
udar mózgu, niedrgawkowy stan padaczkowy, tętnica Percherona, Medicine
Abstract

Występowanie odmiany unaczynienia mózgu nazywanej tętnicą Percherona jest zjawiskiem rzadkim. W przypadku powstania niedrożności tego naczynia dochodzi do niedokrwienia przyśrodkowych części obu wzgórz i zmiennie śródmózgowia. Charakterystyczne objawy kliniczne to zaburzenia świadomości i pamięci, ograniczenie ruchomości gałek ocznych w płaszczyźnie wertykalnej oraz patologie dotyczące reakcji źrenic. Czynniki etiologiczne to zazwyczaj choroba małych naczyń lub zatorowość kardiogenna. Objawy kliniczne występujące w związku z niedokrwieniem mózgu z zakresu tętnicy Percherona mogą imitować niedrgawkowy stan padaczkowy. W artykule przedstawiono przypadek chorej z udarem niedokrwiennym w zakresie obu wzgórz i śródmózgowia, u której początkowo rozpoznano i leczono stan padaczkowy. Dokładna znajomość objawów udaru mózgu z zakresu tętnicy Percherona pozwala na szybkie rozpoznanie i wdrożenie właściwego leczenia. Artykuł pokazuje trudności związane z diagnostyką i podejmowaniem decyzji terapeutycznych u pacjentów z nietypowymi objawami udaru mózgu.

Published
2017
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17. Moral experience in Edith Stein's philosophy

Author

Piotr Janik

Subjects
przeżycie etyczne, etyka, fenomenologia, przyczynowość, motywacja, Philosophy. Psychology. Religion, Ethics, BJ1-1725
Abstract

The expression “moral experience”, along with the concomitant notion of experience itself, seems to have been understood in divergent ways. Taking as a background three views currently operative in our culture - emotivism, the ethics of duty, and the notion of an ethics “beyond good and evil” - a conception of ethical experience will be presented based on the findings of Edith Stein as elaborated in her work "Philosophy of Psychology and the Humanities".

Published
2017
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18. Prevalence and Clinical Correlates of Self-Harm Behaviors in Gilles de la Tourette Syndrome

Author

Natalia Szejko, Andrzej Jakubczyk, and Piotr Janik

Subjects
Gilles de la Tourette syndrome, self-harm behavior, deliberate self-injury, unintentional self-injury, tics, compulsions, Psychiatry, RC435-571
Abstract

Introduction: Major symptoms of Gilles de la Tourette syndrome (GTS) are tics, but in 90% of cases, psychiatric comorbidities occur. Self-harm behaviors (SHBs) could result from deliberate action and unintentional injury from tics.Methods: We examined 165 consecutive GTS patients aged 5 to 50 years (75.8% males). The median duration of GTS was 14 years (interquartile range, 9–22 years). The patients were evaluated for GTS and comorbid mental disorders according to the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, Text Revision. Self-harm behavior was diagnosed during the interview. To determine a direct relationship between SHB and clinical variables, we conducted two analyses, at the time of evaluation and lifetime. We also compared the group of children and adults with SHB. We also tried to distinguish between deliberate (non–tic-related SHB) and accidental (tic-related SHB).Results: Lifetime SHB was reported by 65 patients (39.4%), and in 55 of the cases, it was present at the time of evaluation. The age at the onset of SHB was reported in 55 of the cases (84.6%), and the median was 10 years (interquartile range, 7–13 years). In 30 of the patients (46.2%), SHB was evaluated as mild; in 26 (40%), as moderate; and in only 9 cases (13.9%), as severe. In the multivariable analysis for the predictor of lifetime SHB, attention-deficit/hyperactivity disorder (p = 0.016) and obsessive-compulsive disorder (OCD; p = 0.042) were determined as risk factors, while for current SHB, only tic severity (p < 0.0001) was statistically significant. When comparing predictors of SHB for children and adults, tic severity was determined as predictor for lifetime SHB in children (p < 0.0001), while the anxiety disorder was associated with lifetime SHB in adults (p = 0.05). Similarly, tic severity was a predictor of current SHB in the children group (p = 0.001), but this was not confirmed for adults. The group of patients with tic-related and non–tic-related SHB did not differ.Conclusions: Self-harm behavior appears mostly in children and adolescents and rarely begins in adulthood. Self-harm behavior is associated mainly with tic severity, obsessive-compulsive disorder, and attention-deficit/hyperactivity disorder. Clinical correlates of SHB are age related and differ at different points of life. Tic severity is the main factor associated with SHB in children. In the adult group, anxiety disorder and other psychiatric comorbidities may play the most important role.

Published
2019
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19. Phenomenology and Clinical Correlates of Stimulus-Bound Tics in Gilles de la Tourette Syndrome

Author

Piotr Janik, Lukasz Milanowski, and Natalia Szejko

Subjects
stimulus-bound tics, GTS, stimulus-induced behaviors, palilalia, SBTs, Neurology. Diseases of the nervous system, RC346-429
Abstract

Introduction: Stimulus-bound tics (SBTs) belong to stimulus-induced behaviors and are defined as tics that occur in response to internal or external stimuli. The aim of the study was to assess the prevalence and associations of SBTs with other stimulus-triggered behaviors, premonitory urges and stimulus sensitization in Gilles de la Tourette syndrome (GTS).Methods: We performed a prospective, one-registration study in a cohort of 140 consecutive patients with GTS. Duration of GTS was 10.6 ± 8.7 years (range: 0–39 years). SBTs were diagnosed during the interview.Results: SBTs occurred at some point in the lifetime of 20.7% of patients. The presence of SBTs in adults was four times as frequent as in children (35.5% vs. 9.0%) with the most frequent onset in adolescence (58.8%) and adulthood (29.4%). These tics started 9.1 ± 4.7 years after the onset of tics. One stimulus and mental stimulus preceded tics most frequently, 44.8 and 33.3%, respectively. There was no established pattern of tics triggered by stimuli. Multivariate logistic regression analysis showed significant associations of SBTs with age at evaluation, tic severity, and palilalia but not with any co-morbid psychiatric disorders. 80% of patients showed at least one stimulus-triggered behavior. Premonitory urges and stimulus sensitization were reported by 60.0 and 40.7% of patients, respectively. No significant correlations between SBTs, premonitory urges and stimulus sensitization were found.Conclusion: SBTs are a part of the tic spectrum and should be taken into account by clinicians who deal with GTS patients. These tics fall at the tic end of the continuum of stimulus-induced behaviors.

Published
2018
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20. Serum amino acid profile in patients with Parkinson's disease.

Author

Monika Figura, Katarzyna Kuśmierska, Ewelina Bucior, Stanisław Szlufik, Dariusz Koziorowski, Zygmunt Jamrozik, and Piotr Janik

Subjects
Medicine, Science
Abstract

Amino acids play numerous roles in the central nervous system, serving as neurotransmitters, neuromodulators and regulators of energy metabolism. The free amino acid profile in serum of Parkinson's disease (PD) patients may be influenced by neurodegeneration, mitochondrial dysfunction, malabsorption in the gastroenteric tract and received treatment. The aim of our study was the evaluation of the profile of amino acid concentrations against disease progression. We assessed the amino acid profile in the serum of 73 patients divided into groups with early PD, late PD with dyskinesia and late PD without dyskinesia. Serum amino acid analysis was performed by high-pressure liquid chromatography with fluorescence detection. We observed some significant differences amongst the groups with respect to concentrations of alanine, arginine, phenylalanine and threonine, although no significant differences were observed between patients with advanced PD with and without dyskinesia. We conclude that this specific amino acid profile could serve as biochemical marker of PD progression.

Published
2018
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21. On Remembering, or Concerning the Limits of Laws of Association

Author

Piotr Janik

Subjects
asocjacja, przyczynowość, motywacja, świadomość, fenomenologia, Philosophy. Psychology. Religion, Ethics, BJ1-1725
Abstract

Basing itself on Edith oStein's research into the philosophy of psychology and the humanities, this article focuses particularly on discussions of the theory of association. Stein's approach, rooted in a Husserlian phenomenological perspective, seems to represent a significant contribution to the establishing of an intellectual framework for the exploration of the philosophy of consciousness, and also seems helpful for inquiries into the issue of practical know-how pertaining to remembering things, as well as the use of schemata in intellectual activity generally.

Published
2013
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22. Association of ADORA1 rs2228079 and ADORA2A rs5751876 Polymorphisms with Gilles de la Tourette Syndrome in the Polish Population.

Author

Piotr Janik, Mariusz Berdyński, Krzysztof Safranow, and Cezary Żekanowski

Subjects
Medicine, Science
Abstract

Gilles de la Tourette syndrome (GTS) is a neurodevelopmental disorder characterized by motor and vocal tics. Hyperactivity of dopaminergic transmission is considered a prime abnormality in the pathophysiology of tics. There are reciprocal antagonistic interactions between adenosine and dopamine transmission. The aim of the study was to analyze the association of two polymorphisms, rs2228079 in ADORA1 and rs5751876 in ADORA2A, with the risk of GTS and co-morbid disorders.A total of 162 Polish GTS patients and 270 healthy persons were enrolled in the study. Two polymorphisms were selected on the basis of knowledge of SNPs frequencies in ADORA1 and ADORA2A. Chi-square test was used for allelic and genotypic association studies. Association of genotypes with age of tic onset was analyzed with Mann-Whitney test. Multivariate logistic regression was used to find independent predictors of GTS risk.We found that the risk of GTS was associated with rs2228079 and rs5751876 polymorphisms. The GG+GT genotypes of rs2228079 in ADORA1 were underrepresented in GTS patients (p = 0.011), whereas T allele of rs5751876 in ADORA2A was overrepresented (p = 0.017). The GG genotype of rs2228079 was associated with earlier age of tic onset (p = 0.046). We found also that the minor allele G of rs2228079 was more frequent in GTS patients with depression as compared to the patients without depression (p = 0.015). Also the genotype GG was significantly more frequent in patients with obsessive compulsive disorder/behavior (OCD/OCB, p = 0.021) and depression (p = 0.032), as compared to the patients without these co-morbidities. The minor allele T frequency of rs5751876 was lower in GTS patients with co-morbid attention deficit hyperactivity disorder (p = 0.022), and TT+TC genotypes were less frequent in the non-OCD anxiety disorder group (p = 0.045).ADORA1 and ADORA2A variants are associated with the risk of GTS, co-morbid disorders, and may affect the age of tic onset.

Published
2015
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24. Genome-wide Association Study Points to Novel Locus for Gilles de la Tourette Syndrome

Author

Fotis Tsetsos, Apostolia Topaloudi, Pritesh Jain, Zhiyu Yang, Dongmei Yu, Petros Kolovos, Zeynep Tumer, Renata Rizzo, Andreas Hartmann, Christel Depienne, Yulia Worbe, Kirsten R. Müller-Vahl, Danielle C. Cath, Dorret I. Boomsma, Tomasz Wolanczyk, Cezary Zekanowski, Csaba Barta, Zsofia Nemoda, Zsanett Tarnok, Shanmukha S. Padmanabhuni, Joseph D. Buxbaum, Dorothy Grice, Jeffrey Glennon, Hreinn Stefansson, Bastian Hengerer, Evangelia Yannaki, John A. Stamatoyannopoulos, Noa Benaroya-Milshtein, Francesco Cardona, Tammy Hedderly, Isobel Heyman, Chaim Huyser, Pablo Mir, Astrid Morer, Norbert Mueller, Alexander Munchau, Kerstin J. Plessen, Cesare Porcelli, Veit Roessner, Susanne Walitza, Anette Schrag, Davide Martino, Jay A. Tischfield, Gary A. Heiman, A. Jeremy Willsey, Andrea Dietrich, Lea K. Davis, James J. Crowley, Carol A. Mathews, Jeremiah M. Scharf, Marianthi Georgitsi, Pieter J. Hoekstra, Peristera Paschou, Cathy L. Barr, James R. Batterson, Cheston Berlin, Cathy L. Budman, Giovanni Coppola, Nancy J. Cox, Sabrina Darrow, Yves Dion, Nelson B. Freimer, Marco A. Grados, Erica Greenberg, Matthew E. Hirschtritt, Alden Y. Huang, Cornelia Illmann, Robert A. King, Roger Kurlan, James F. Leckman, Gholson J. Lyon, Irene A. Malaty, William M. McMahon, Benjamin M. Neale, Michael S. Okun, Lisa Osiecki, Mary M. Robertson, Guy A. Rouleau, Paul Sandor, Harvey S. Singer, Jan H. Smit, Jae Hoon Sul, Christos Androutsos, Entela Basha, Luca Farkas, Jakub Fichna, Piotr Janik, Mira Kapisyzi, Iordanis Karagiannidis, Anastasia Koumoula, Peter Nagy, Joanna Puchala, Natalia Szejko, Urszula Szymanska, Vaia Tsironi, Alan Apter, Juliane Ball, Benjamin Bodmer, Emese Bognar, Judith Buse, Marta Correa Vela, Carolin Fremer, Blanca Garcia-Delgar, Mariangela Gulisano, Annelieke Hagen, Julie Hagstrøm, Marcos Madruga-Garrido, Alessandra Pellico, Daphna Ruhrman, Jaana Schnell, Paola Rosaria Silvestri, Liselotte Skov, Tamar Steinberg, Friederike Tagwerker Gloor, Victoria L. Turner, Elif Weidinger, John Alexander, Tamas Aranyi, Wim R. Buisman, Jan K. Buitelaar, Nicole Driessen, Petros Drineas, Siyan Fan, Natalie J. Forde, Sarah Gerasch, Odile A. van den Heuvel, Cathrine Jespersgaard, Ahmad S. Kanaan, Harald E. Möller, Muhammad S. Nawaz, Ester Nespoli, Luca Pagliaroli, Geert Poelmans, Petra J.W. Pouwels, Francesca Rizzo, Dick J. Veltman, Ysbrand D. van der Werf, Joanna Widomska, Nuno R. Zilhäo, Lawrence W. Brown, Keun-Ah Cheon, Barbara J. Coffey, Thomas V. Fernandez, Donald L. Gilbert, Hyun Ju Hong, Laura Ibanez-Gomez, Eun-Joo Kim, Young Key Kim, Young-Shin Kim, Yun-Joo Koh, Sodahm Kook, Samuel Kuperman, Bennett L. Leventhal, Athanasios Maras, Tara L. Murphy, Eun-Young Shin, Dong-Ho Song, Jungeun Song, Matthew W. State, Frank Visscher, Sheng Wang, Samuel H. Zinner, Psychiatry, APH - Mental Health, APH - Methodology, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Neuroscience - Mood, Anxiety, Psychosis, Stress & Sleep, Anatomy and neurosciences, Amsterdam Neuroscience - Compulsivity, Impulsivity & Attention, Amsterdam Neuroscience - Neurodegeneration, Radiology and nuclear medicine, Amsterdam Neuroscience - Brain Imaging, Amsterdam Neuroscience - Systems & Network Neuroscience, Biological Psychology, and Amsterdam Reproduction & Development

Subjects
meta-analysis, Medizin, GWAS, Biological Psychiatry, NR2F1, Tourette Syndrome
Abstract

Background: Tourette syndrome (TS) is a childhood-onset neurodevelopmental disorder of complex genetic architecture and is characterized by multiple motor tics and at least one vocal tic persisting for more than 1 year. Methods: We performed a genome-wide meta-analysis integrating a novel TS cohort with previously published data, resulting in a sample size of 6133 individuals with TS and 13,565 ancestry-matched control participants. Results: We identified a genome-wide significant locus on chromosome 5q15. Integration of expression quantitative trait locus, Hi-C (high-throughput chromosome conformation capture), and genome-wide association study data implicated the NR2F1 gene and associated long noncoding RNAs within the 5q15 locus. Heritability partitioning identified statistically significant enrichment in brain tissue histone marks, while polygenic risk scoring of brain volume data identified statistically significant associations with right and left thalamus volumes and right putamen volume. Conclusions: Our work presents novel insights into the neurobiology of TS, thereby opening up new directions for future studies.

Published
2023

25. Validation of the Polish version of the Unified Dyskinesia Rating Scale (UDysRS)

Author

Jarosław Sławek, Magdalena Boczarska-Jedynak, Urszula Fiszer, Joanna Siuda, Piotr Janik, Marek Śmiłowski, Marta Leńska-Mieciek, Dariusz Koziorowski, Jarosław Dulski, Glenn T. Stebbins, Monika Figura, Agata Gajos, Ewa Koziorowska-Gawron, Sławomir Budrewicz, Mateusz Toś, Jeffrey Lin, Magdalena Wójcik-Pędziwiatr, Andrzej Bogucki, Anna Krygowska-Wajs, Pablo Martinez-Martin, Magdalena Koszewicz, Małgorzata Michałowska, Agnieszka Gorzkowska, Grzegorz Opala, Monika Rudzińska-Bar, Sheng Luo, Christopher G. Goetz, Marta Piaścik-Gromada, Katarzyna Potasz-Kulikowska, and Anna Wasilewska

Subjects
Dyskinesias, business.industry, Reproducibility of Results, Parkinson Disease, Spanish version, Factor structure, Severity of Illness Index, eye diseases, humanities, Executive committee, Index score, Dyskinesia, Rating scale, medicine, Humans, Translations, Surgery, In patient, Poland, Neurology (clinical), medicine.symptom, business, Reference standards, Clinical psychology
Abstract

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, and compared it to the Spanish version, which is the Reference Standard for UDysRS translations. Material and methods. The UDysRS was translated into Polish by a team led by JS and GO. The back-translation, completed by colleagues fluent in both Polish and English who were not involved in the original translation, was reviewed and approved by the Executive Committee of the MDS Rating Scales Programme. Then the translated version of the UDysRS underwent cognitive pretesting, and the translation was modified based on the results. The approved version was considered to be the Official Working Document of the Polish UDysRS and was tested on 250 Polish PD patients recruited at movement disorder centres. Data was compared to the Reference Standard used for validating UDysRS translations. Results. The overall factor structure of the Polish version was consistent with that of the Reference Standard version, as evidenced by the high Confirmatory Fit Index score (CFI = 0.98). The Polish UDysRS was thus confirmed to share a common factor structure with the Reference Standard. Conclusions. The Official Polish UDysRS translation is recommended for use in clinical and research settings. Worldwide use of uniform rating measures offers a common ground to study similarities and differences in disease manifestations and progression across cultures.

Published
2021

26. Tonic Tics in Gilles de la Tourette Syndrome

Author

Piotr Janik and Justyna Kaczyńska

Subjects
Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Gilles de la Tourette syndrome, Pediatrics, medicine.medical_specialty, Adolescent, Tics, tonic tics, simple tics, Tourette syndrome, Young Adult, 03 medical and health sciences, 0302 clinical medicine, mental disorders, 0502 economics and business, Prevalence, medicine, Humans, In patient, Child, Tourette disorder, dystonic tics, business.industry, 05 social sciences, complex tics, General Medicine, Middle Aged, medicine.disease, body regions, medicine.anatomical_structure, Child, Preschool, Pediatrics, Perinatology and Child Health, Cohort, Abdomen, Original Article, 050211 marketing, Neurology (clinical), Multivariate statistical, Muscle group, business, human activities, 030217 neurology & neurosurgery, Tourette Syndrome
Abstract

Aim Tonic tics (TTs) are a part of a clinical picture of Gilles de la Tourette syndrome (GTS) and manifest themselves as sustained and isometric contraction of a muscle group devoid of the movement effect or accompanied by only slight visible motion. The aim of this study was to evaluate the prevalence and phenomenology of TTs, and to assess the clinical associations of TTs with tic severity and comorbidities in patients with GTS. Methods We performed a one-time registration study in a cohort of 241 consecutive outpatients with GTS aged 5 to 50 years (188 males, 153 patients under the age of 18 years). All patients were personally interviewed and examined. Results TTs occurred in 85.2% of adults and 63.9% of children and adolescents. Most frequently reported types of TTs were tensing of the abdomen (58.7%), neck (52.7%), and upper limbs (50.3%). Multivariate statistical analysis showed a significant correlation between TTs and the total number of simple tics, total number of complex tics, and age at evaluation. In the group of children and adolescents, an additional significant variable was the duration of GTS. In the group of adults, significant parameters were total number of simple tics, total number of complex tics, peak tic severity ever experienced, premonitory urges, and the presence of dystonic tics. Conclusion TTs belong to the tic spectrum, common and early symptoms of GTS, are associated with overall a greater number of tics which are more severe, and with more comorbidities.

Published
2021

27. Is deep brain stimulation effective in Huntington's Disease? - a systematic literature review

Author

Justyna Kaczyńska, Emilia J. Sitek, Grzegorz Witkowski, Monika Rudzińska-Bar, Piotr Janik, Jarosław Sławek, Edeth Maria Garszia Edwin, and Daniel Zielonka

Subjects
Cognition, Huntington Disease, Treatment Outcome, Chorea, Humans, Surgery, Neurology (clinical), Globus Pallidus
Abstract

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 the therapy of HD patients. However, deep brain stimulation (DBS) is considered a potential therapeutic option.Systematic review of current literature on DBS efficacy and safety in the management of motor, behavioural and cognitive functions in patients with HD.A systematic review was conducted with the use of the Scopus database and the following search criteria: TITLE (huntington*) AND TITLE-ABS-KEY ('deep brain stimulation' OR 'neuromodulation'). Our search criteria included original studies with at least five patients, reporting any motor, cognitive and/or behavioural, and functional assessment data with at least a 6-month follow-up. Finally, four selected publications were analysed.In all analysed publications, we found a statistically significant improvement of Unified Huntington's Disease Rating Scale (UHDRS) chorea subscore by an average of 40, to over 60% after DBS implantation. Heterogeneous results were obtained for UHDRS total motor score. DBS did not improve functional capacity of HD patients in the analysed studies. We found no systematic assessment concerning the effect of DBS in HD on behaviour, cognition or speech.DBS implantation could be considered as a therapeutic option for patients with severe, drug-resistant chorea. However, the evidence for this is limited. To date, no high-quality data based on randomised controlled trials supports the long-term safety and efficacy of DBS in HD. This treatment option should therefore currently be considered as investigational.

Published
2022

29. An oligogenic risk-model for Gilles de la Tourette syndrome based on whole-genome sequencing data

Author

Malgorzata Borczyk, Jakub P Fichna, Marcin Piechota, Sławomir Gołda, Michal Korostyński, Piotr Janik, and Cezary Żekanowski

Abstract

Gilles de la Tourette syndrome (GTS) is a neurodevelopmental disorder from the spectrum of tic disorders (TDs). GTS and other TDs have a substantial genetic component with the heritability estimated at between 60 and 80%. Here we propose an oligogenic risk model of GTS and other TDs using whole-genome sequencing (WGS) data from a group of Polish GTS patients and their families (n=185). The model is based on the overrepresentation of putatively pathogenic coding and non-coding genetic variants in genes selected from a set of 86 genes previously suggested to be associated with GTS. Based on the variant overrepresentation (SKAT test results) between unrelated GTS patients and controls based on gnomAD database allele frequencies five genes (HDC, CHADL, MAOA, NAA11, and PCDH10) were selected for the risk model. Putatively pathogenic variants (n = 98) with the median allele frequency of ∼0.04 in and near these genes were used to build an additive classifier which was then validated on the GTS patients and their families. This risk model successfully assigned individuals from 22 families to either healthy or GTS groups (AUC-ROC = 0.6, p < 0.00001). These results were additionally validated using the GTS GWAS data from the Psychiatric Genomic Consortium. To investigate the GTS genetics further we identified 32 genes from the list of 86 genes as candidate genes in 14 multiplex families, including NEGR1 and NRXN with variants overrepresented in multiple families. WGS data allowed the construction of an oligogenic risk model of GTS based on possibly pathogenic variants likely contributing to the risk of GTS and TDs. The model includes putatively deleterious rare and non-coding variants in and near GTS candidate genes that may cooperatively contribute to GTS etiology and provides a novel approach to the analysis of clinical WGS data.

Published
2021

30. Cognitive Tic-Like Phenomena in Gilles de la Tourette Syndrome

Author

Anna Dunalska, Natalia Szejko, Piotr Janik, and Andrzej Jakubczyk

Subjects
Pediatrics, medicine.medical_specialty, Echolalia, Gilles de la Tourette syndrome, Tics, Coprolalia, Tourette syndrome, Article, Palilalia, 03 medical and health sciences, 0302 clinical medicine, mental disorders, medicine, anxiety disorder, 0501 psychology and cognitive sciences, 050102 behavioral science & comparative psychology, echophenomena, business.industry, Incidence (epidemiology), 05 social sciences, cognitive tic-like phenomena, General Medicine, medicine.disease, coprolalia, obsessions, Cohort, Medicine, medicine.symptom, business, 030217 neurology & neurosurgery, Anxiety disorder
Abstract

Coprolalia and echophenomena repeated in the patients’ mind (CTPh—cognitive tic-like phenomena) have been rarely recognized as part of Gilles de la Tourette syndrome (GTS) symptomatology and their assignment to tics, OCD or other psychopathologies has not been settled. The aim of the paper was to assess the incidence and clinical associations of CTPh in GTS, and to establish if CTPh belong to the tic spectrum. We performed a prospective, one-registration study on a cohort of 227 consecutive patients with GTS. CTPh were diagnosed during the interview and defined as brief, sudden, involuntary thoughts that had corresponding complex vocal tics. CTPh occurred at some point in the lives of 34 (15.0%) patients. The median age at onset of CTPh was 14.5 years (IQR: 10.5–17.5). CTPh were found more frequently in adults, with the most frequent onset in adolescence (44.1%). Four mental phenomena resembling tics were recognized: echolalia (n = 17), coprolalia (n = 16), palilalia (n = 13) and repeating of words in the mind (n = 7). The older the age of patients, the more severe tics, and anxiety disorder significantly correlated with CTPh. CTPh may be considered as a part of tic spectrum with a substantial impact of anxiety disorder. CTPh are a late and age-related symptom of GTS.

Published
2021

31. Blocking Tics in Gilles de la Tourette Syndrome

Author

Piotr Janik and Justyna Kaczyńska

Subjects
Pediatrics, medicine.medical_specialty, Gilles de la Tourette syndrome, Tics, blocking phenomena, Tourette syndrome, blocking tics, 03 medical and health sciences, 0302 clinical medicine, medicine, 0501 psychology and cognitive sciences, 050102 behavioral science & comparative psychology, RC346-429, Tourette disorder, business.industry, 05 social sciences, Mean age, complex tics, Brief Research Report, medicine.disease, negative motor phenomena, obsessive-compulsive disorder, Neurology, Cohort, Neurology (clinical), Neurology. Diseases of the nervous system, Age of onset, business, 030217 neurology & neurosurgery
Abstract

Introduction: Patients with Gilles de la Tourette syndrome (GTS) may experience blocking tics (BTs) defined as recurrent, brief cessations of motor acts. The aim of this study was to assess the prevalence, age of onset, and clinical correlates of BTs in GTS patients.Materials and Methods: We performed a one-time registration study in a cohort of 195 consecutive GTS patients aged 5–66 years (mean age: 15.0 ± 9.2; 47 females, 24.1%). All patients were personally interviewed and examined.Results: At least one BT occurred at some point in the lifetime of 73 patients (37.4%) with a mean age of onset of 10.4 ± 5.9 years. BTs occurred an average of 4.8 ± 5.3 years after tic onset. The most common BT was cessation of walking (n = 59, 80.8%), followed by speech (n = 19, 26.0%), running (n = 18, 24.7%), and writing (n = 9, 12.3%). Most of the patients (n = 52, 71.2%) reported cessation of only one activity. Clinical associations of BTs included more severe tics, overall greater number of tics, and, to a lesser extent, higher age at evaluation and comorbid obsessive-compulsive disorder.Conclusions: BTs represent complex tics, early and common symptoms of GTS, and are associated with a more severe form of GTS.

Published
2021

32. Angioplasty of the popliteal artery using the Jaguar™ stent

Author

Piotr Janik, Adam Uryniak, and Paweł Wojciech Potoczny

Subjects
medicine.medical_specialty, business.industry, medicine.medical_treatment, Stent, 030204 cardiovascular system & hematology, medicine.disease, Popliteal artery, Surgery, 03 medical and health sciences, Stenosis, 0302 clinical medicine, Diabetes mellitus, medicine.artery, Angioplasty, Occlusion, medicine, 030211 gastroenterology & hepatology, In patient, Endovascular treatment, Cardiology and Cardiovascular Medicine, business
Abstract

Introduction. The aim of this study was to evaluate the effectiveness of the endovascular treatment of atherosclerotic stenosis/occlusion of the popliteal artery according to TASC II recommendations using the Jaguar SM self-expanding stent depending on the modifiable and unmodifiable risk factors of repeated stenosis/occlusions. Material and methods. The study included 126 men and 46 women aged 46–95 years in 2011–2015. Surgeries were performed in the scheduled and emergency mode. Angioplasty of the popliteal artery with the Jaguar stent implantation was performed in patients with severe chronic limb ischaemia and critical limb ischaemia. Post-operative popliteal artery patency was evaluated in relation to sex, obesity, diabetes, smoking tobacco, and patency of the lower extremity arteries. Results. The postoperative patient follow-up was conducted for 60 months, demonstrating 67% patency after 12 months, 59% patency after 24 months, 53% patency after 36 months, 45% patency after 48 months, and 31% patency after 60 months. Conclusions. The Jaguar™ stent implantation is an effective and safe method of treatment of atherosclerotic stenosis and occlusion of the popliteal artery. The occlusion was found in patients with the risk factors such as: obesity, diabetes, and tobacco smoking, limited runoff arteries in the lower leg. Stent fracture did not occur in any patient.

Published
2018

33. Irrealia: F. Suárez’s Concept of Being in the Formulation of Intentionality from F. Brentano to J. Patočka and Beyond

Author

Piotr Janik

Abstract

F. SUÁREZ’S CONCEPT OF BEING IN THE FORMULATION OF INTENTIONALITY FROM F. BRENTANO TO J. PATOČKA AND BEYOND The language of phenomenology includes terms such as intentionality, phenomenon, insight, analysis, sense, not to mention the key term of Edmund Husserl’s manifesto, “the things themselves” to return to. But what does the “things themselves” properly mean? How come the term is replaced by the “findings” over time? And what are the findings for? The investigation begins by looking at the tricky legacy of the modern turn, trying to clarify ties to past masters, including Francisco Suárez and Augustine of Hippo. The former, because his influence goes beyond René Descartes reaching undoubtedly Franz Brentano and his students, as well as Martin Heidegger. The latter, because Augustine gives a personal component to the Greek inheritance, marked by the “inward turn.” However, it would not be possible to review the history of thought without the help offered by Jan Patočka's analyses. Patočka discloses the “care” of the Greek philosophers, Plato and Democritus among others, “for the soul”, we would say with Patočka for “being,” whose sense “does not leave us indifferent” as the leitmotiv of Ancient Philosophy. Nevertheless, in his lectures on Plato and Europe, Patočka points out that you must be careful not to confuse the phenomena of things, of existens, with the phenomena of being. Finally, Patočka’s legacy is found in the efforts to reconcile the life-feeling with the modern construction of reality, which means “a radical reconstruction of the naive and natural world of common sense.” In some ways, intentionality is to be revised.

Published
2021

34. The Matrix, or When the Natural World Is Scary

Author

Piotr Janik

Abstract

THE MATRIX, OR WHEN THE NATURAL WORLD IS SCARY Husserl’s commitment to reality is marked by the urgency to return, or rather to a repeated return each time the objective is achieved. He explains this explicitly in The Crisis of European Sciences and Transcendental Phenomenology, taking his cue from Descartes’ Meditations. Reduction, which is the exact name for return, means change of attitude, abandonment of the natural position as naive. Jan Patočka notes in this regard, that today people who have experienced modern science no longer simply live in the naive natural world. The naive natural world is interpreted under species of the mathematical model. So, the gap between meaning as an expectation of experience and meaning within the framework of the model is increasingly evident. If intentionality, according to Husserl and disciples, including Heidegger, cannot be other than the idea itself, then it is just a something for something. It’s like giving voice to one thing and not another. Commitment to life (Husserl’s Lebenswelt) requires a return to corporeality, as Patočka adds, following Maine de Biran’s accurate insight, that is, of something immediately given, prior to any perceptual experience. The term “matrix” in the title brings to mind the eponymous 1999 film based on the philosophical metaphor of Plato’s cave in the fashion of the digital age. The protagonist, Neo, finds himself living for a long time in the lack of support of reality, precisely because of distrust: something is wrong, and this can only be felt. However, how can the hacker mentality help you understand that perhaps it is but a game?

Published
2021

35. Ingarden’s Legacy: Responsibility as Legal and Beyond

Author

Piotr Janik

Abstract

Following Ingarden’s thoughts on the meaning of responsibility, this paper presents an analysis in the domain of values, without limiting it to ethics. Ingarden’s concept of responsibility is deeply rooted in the legal tradition and therefore establishes a mostly juridical and penal understanding of responsibility. I also refer to Stein’s research, which coincides with Ingarden’s thought and eventually provides a basis for responsibility. In her polemics with Scheler, Stein postulated accessing values through feeling in terms of a “living body.” In other words, Stein agrees with Scheler about the correlate of feeling, however, she opposes the personality account in Scheler and underlines the key role of the disposition of the living body and even the “personal touch,” one which enriches the concept of intentionality. Responsibility is crucial for the individual, for his or her development and life, as I will try to outline in this paper.

Published
2021

36. Frequency of mutations in PRKN, PINK1, and DJ1 in Patients With Early-Onset Parkinson Disease from neighboring countries in Central Europe

Author

Ronald L. Walton, Joanna Siuda, Zygmunt Jamrozik, Angela Deutschländer, Piotr Janik, Magdalena Boczarska-Jedynak, Maria Barcikowska, Katherine Karpinsky, Alexandra I. Soto-Beasley, Irena Rektorová, Lech Szczechowski, Andrzej Friedman, Dorota Hoffman-Zacharska, Barbara Jasinska-Myga, Dariusz Koziorowski, Jarosław Dulski, Jarosław Sławek, Jennifer A. Lindemann, Aleksander Pulyk, Katarzyna Śmiłowska, Lyuda Fedoryshyn, Zbigniew K. Wszolek, Owen A. Ross, Anna Potulska-Chromik, Gabriela Kłodowska, Grzegorz Opala, Monika Rudzińska-Bar, Y Sanotsky, Łukasz Milanowski, and Anna Krygowska-Wajs

Subjects
0301 basic medicine, Czech, Adult, Male, medicine.medical_specialty, Movement disorders, Ubiquitin-Protein Ligases, Protein Deglycase DJ-1, PINK1, Disease, Compound heterozygosity, Article, Cohort Studies, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Internal medicine, Medicine, Humans, In patient, Early onset, Aged, Sanger sequencing, business.industry, Parkinson Disease, Middle Aged, language.human_language, Europe, 030104 developmental biology, Neurology, Mutation, language, symbols, Female, Neurology (clinical), Geriatrics and Gerontology, medicine.symptom, business, Protein Kinases, 030217 neurology & neurosurgery
Abstract

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 mutations in an EOPD series from 4 neighboring European countries: Czech Republic, Germany, Poland, and Ukraine. Methods Diagnosis of PD was made based on UK Brain Bank diagnostic criteria in departments experienced in movement disorders (1 from Czech Republic, 1 from Germany, 9 from Poland, and 3 from Ukraine). EOPD was defined as onset at or before 50 years of age. Of the 541 patients recruited to the study, 11 were Czech, 38 German, 476 Polish, and 16 Ukrainian. All cohorts were fully screened with Sanger sequencing for PRKN, PINK1, and DJ1 and multiplex ligation-dependent probe amplification for exon dosage. Results PRKN homozygous or double heterozygous mutations were identified in 17 patients: 1 Czech (9.1%), 1 German (2.6%), 14 Polish (2.9%), and 1 Ukrainian (6.3%). PINK1 homozygous mutations were only identified in 3 Polish patients (0.6%). There were no homozygous or compound heterozygous DJ1 mutations in analyzed subpopulations. One novel variant in PRKN was identified in the Ukrainian series. Conclusion In the analyzed cohorts, mutations in the genes PRKN, PINK1, and DJ1 are not frequently observed.

Published
2020

37. Cognitive tics in Gilles de la Tourette syndrome

Author

Andrzej Jakubczyk, Anna Dunalska, Natalia Szejko, and Piotr Janik

Subjects
business.industry, Medicine, business, nervous system diseases
Abstract

BACKGROUND Gilles de la Tourette syndrome (GTS) is characterized by motor and vocal tics. Cognitive tics (CTs) have been rarely recognized as part of GTS symptomatology and their prevalence and associates have not been systematically investigated. OBJECTIVES The aim of the study was to assess the incidence and clinical associations of CTs in a group of patients with GTS. METHODS We examined 227 consecutive GTS patients aged 5–50 years old (78.4% males). The median duration of GTS was 4 years (IQR: 3–7) in children and 18 years (IQR: 12–23) in adults. The patients were evaluated for GTS and comorbid mental disorders according to the DSM-IV-TR and DSM-5. CTs were defined as brief, sudden, recurring involuntary thoughts, analogous to typically recognized complex vocal tics and diagnosed during the interview. Correlations between CTs and clinical variables were evaluated in two analyses, lifetime and current. Children and adult groups were compared. RESULTS Lifetime CTs were reported by 48 patients (21.1%), in 33 of the cases at the time of evaluation. The median age at onset of CTs was 13.5 years (IQR 9.3–16). Five mental phenomena were evaluated: echolalia (n = 17), coprolalia (n = 16), palilalia (n = 13), counting (n = 11), repeating of words in mind (n = 7). In the multivariable analysis of lifetime CTs, tic severity (p = 0.025) and significant social skill problems (p = 0.050) demonstrated correlation, while for current CTs only tic severity (p = 0.028) and anxiety disorder (p = 0.028) remained significant. In logistic regression model for age groups, in children only age was a factor significantly associated with lifetime CTs (p = 0.033), whereas in adults there were no statistically significant associations with lifetime CTs. For current CTs, none of the variables reached statistical significance in children, while only anxiety disorder was a predictor of current CTs in adults (p = 0.018). CONCLUSIONS CTs are a part of tic spectrum with a substantial impact of comorbid psychiatric disorders. CTs are a late and age-related symptom of GTS.

Published
2020

38. Validation of the Polish version of the Movement Disorder Society-Unified Parkinson's Disease Rating Scale (MDS-UPDRS)

Author

Joanna Siuda, Glenn T. Stebbins, Jarosław Sławek, Agnieszka Gorzkowska, Marta Piaścik-Gromada, Magdalena Wójcik-Pędziwiatr, Anna Wasielewska, Ewa Koziorowska-Gawron, Sławomir Budrewicz, Monika Rudzińska-Bar, Magdalena Koszewicz, Monika Figura, Jarosław Dulski, Dariusz Koziorowski, Piotr Janik, Katarzyna Potasz-Kulikowska, Xuehan Ren, Pablo Martinez-Martin, Sheng Luo, Małgorzata Michałowska, Marek Śmiłowski, Urszula Fiszer, Marta Leńska-Mieciek, Christopher G. Goetz, Agata Gajos, Anna Krygowska-Wajs, Magdalena Boczarska-Jedynak, Andrzej Bogucki, and Grzegorz Opala

Subjects
business.industry, Mds updrs, Scale (descriptive set theory), Unified Parkinson's disease rating scale, Factor structure, Mental Status and Dementia Tests, Severity of Illness Index, Confirmatory factor analysis, Disability Evaluation, Rating scale, Internal consistency, English version, Medicine, Humans, Surgery, Neurology (clinical), Poland, business, Clinical psychology, Language
Abstract

Background. In 2008, the Movement Disorders Society (MDS) published a new Unified Parkinson’s Disease Rating Scale (MDS-UPDRS) as the official benchmark scale for Parkinson’s Disease (PD). We have translated and validated the Polish version of the MDS-UPDRS, explored its dimensionality, and compared it to the original English one. Methods. The MDS-UPDRS was translated into Polish by a team of Polish investigators led by JS and GO. The back-translation was completed by colleagues fluent in both languages (Polish and English) who were not involved in the original translation, and was reviewed by members of the MDS Rating Scales Programme. Then the translated version of the MDS-UPDRS underwent cognitive pretesting, and the translation was modified based on the results. The final translation was approved as the Official Working Document of the MDS-UPDRS Polish version, and was tested on 355 Polish PD patients recruited at movement disorders centres all over Poland (at Katowice, Gdansk, Łodź, Warsaw, Wroclaw, and Krakow). Confirmatory and explanatory factor analyses were applied to determine whether the factor structure of the English version could be confirmed in the Polish version. Results. The Polish version of the MDS-UPDRS showed satisfactory clinimetric properties. The internal consistency of the Polish version was satisfactory. In the confirmatory factor analysis, all four parts had greater than 0.90 comparative fit index (CFI) compared to the original English MDS-UPDRS. Explanatory factor analysis suggested that the Polish version differed from the English version only within an acceptable range. Conclusions and clinical implications. The Polish version of the MDS-UPDRS meets the requirements to be designated as the Official Polish Version of the MDS-UPDRS, and is available on the MDS web page. We strongly recommend using the MDS-UPDRS instead of the UPDRS for research purposes and in everyday clinical practice.

Published
2020

39. Clinical phenotype heterogeneity in a family with Ε-sarcoglycan gene mutatio

Author

Piotr Janik, Michał Szubiga, Monika Rudzińska-Bar, Zygmunt Jamrozik, and Justyna Kaczyńska

Subjects
Myoclonus, Dystonia, Pediatrics, medicine.medical_specialty, Movement disorders, medicine.diagnostic_test, business.industry, Physical examination, Disease, Gene mutation, medicine.disease, nervous system diseases, Phenotype, SGCE, Dystonic Disorders, Sarcoglycans, Mutation, medicine, Humans, Surgery, Neurology (clinical), medicine.symptom, business, Asymptomatic carrier
Abstract

Aim of the study . This paper describes six cases of patients with myoclonus-dystonia syndrome who are members of a family in which an SGCE gene mutation has been confirmed. Clinical rationale for the study. Myoclonus-dystonia syndrome is a very rare disease, with an incidence in Europe of about 2 in every million. Due to the fact that only a few case reports of this illness are accessible in the literature, the material we collected seems to be valuable for clinical practice. Materials and methods. A history was taken, and physical and genetic examinations of the patients were performed. Furthermore, the clinical examination of three patients was video-recorded. Results. The clinical picture of the disease varied significantly between the described individuals, from a healthy carrier of the SGCE mutation to patients presenting mild to moderate symptoms. The differences concerned the age at onset of the disease, the initial symptoms, the intensity of involuntary movements, and the predominant symptoms. In addition to the typical movement disorders which are myoclonus and dystonia, in the described family there was also the coexistence of epilepsy, obsessive-compulsive behaviour, dyslexia, dysgraphia, non-harmonious development of cognitive processes, as well as mild phenotypic features of muscular dystrophy. The mutation (NM_001099401.2:c.806-809delACTG) found in the presented family has not been described elsewhere. Conclusions and clinical implications. Our description of six cases of patients demonstrates the heterogeneity of the natural course of the disease, even in patients with the same mutation. It seems reasonable to regularly examine relatives of patients with myoclonus-dystonia syndrome, who should be observed for involuntary movements as well as non-motor symptoms.

Published
2020

40. De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis

Author

Sheng Wang, Jeffrey D. Mandell, Yogesh Kumar, Nawei Sun, Montana T. Morris, Juan Arbelaez, Cara Nasello, Shan Dong, Clif Duhn, Xin Zhao, Zhiyu Yang, Shanmukha S. Padmanabhuni, Dongmei Yu, Robert A. King, Andrea Dietrich, Najah Khalifa, Niklas Dahl, Alden Y. Huang, Benjamin M. Neale, Giovanni Coppola, Carol A. Mathews, Jeremiah M. Scharf, Thomas V. Fernandez, Joseph D. Buxbaum, Silvia De Rubeis, Dorothy E. Grice, Jinchuan Xing, Gary A. Heiman, Jay A. Tischfield, Peristera Paschou, A. Jeremy Willsey, Matthew W. State, Mohamed Abdulkadir, Benjamin Bodmer, Yana Bromberg, Lawrence W. Brown, Keun-Ah Cheon, Barbara J. Coffey, Li Deng, Lonneke Elzerman, Carolin Fremer, Blanca Garcia-Delgar, Donald L. Gilbert, Julie Hagstrøm, Tammy Hedderly, Isobel Heyman, Pieter J. Hoekstra, Hyun Ju Hong, Chaim Huyser, Eun-Joo Kim, Young Key Kim, Young-Shin Kim, Yun-Joo Koh, Sodahm Kook, Samuel Kuperman, Bennett L Leventhal, Andrea G. Ludolph, Marcos Madruga-Garrido, Athanasios Maras, Pablo Mir, Astrid Morer, Montana T Morris, Kirsten Müller-Vahl, Alexander Münchau, Tara L. Murphy, Kerstin J. Plessen, Hannah Poisner, Veit Roessner, Stephan J. Sanders, Eun-Young Shin, Dong-Ho Song, Jungeun Song, Joshua K. Thackray, Jennifer Tübing, Frank Visscher, Sina Wanderer, A Jeremy Willsey, Martin Woods, Yeting Zhang, Samuel H. Zinner, Christos Androutsos, Csaba Barta, Luca Farkas, Jakub Fichna, Marianthi Georgitsi, Piotr Janik, Iordanis Karagiannidis, Anastasia Koumoula, Peter Nagy, Joanna Puchala, Renata Rizzo, Natalia Szejko, Urszula Szymanska, Zsanett Tarnok, Vaia Tsironi, Tomasz Wolanczyk, Cezary Zekanowski, Cathy L. Barr, James R. Batterson, Cheston Berlin, Ruth D. Bruun, Cathy L. Budman, Danielle C. Cath, Sylvain Chouinard, Nancy J. Cox, Sabrina Darrow, Lea K. Davis, Yves Dion, Nelson B. Freimer, Marco A. Grados, Matthew E. Hirschtritt, Cornelia Illmann, Roger Kurlan, James F. Leckman, Gholson J. Lyon, Irene A. Malaty, William M. MacMahon, Michael S. Okun, Lisa Osiecki, David L. Pauls, Danielle Posthuma, Vasily Ramensky, Mary M. Robertson, Guy A. Rouleau, Paul Sandor, Harvey S. Singer, Jan Smit, Jae-Hoon Sul, Tourette International Collaborative Genetics Study (TIC Genetics), Tourette Syndrome Genetics Southern and Eastern Europe Initiative (TSGENESEE), Tourette Association of America International Consortium for Genetics (TAAICG), Abdulkadir, M., Arbelaez, J., Bodmer, B., Bromberg, Y., Brown, L.W., Cheon, K.A., Coffey, B.J., Deng, L., Dietrich, A., Dong, S., Duhn, C., Elzerman, L., Fernandez, T.V., Fremer, C., Garcia-Delgar, B., Gilbert, D.L., Grice, D.E., Hagstrøm, J., Hedderly, T., Heiman, G.A., Heyman, I., Hoekstra, P.J., Hong, H.J., Huyser, C., Kim, E.J., Kim, Y.K., Kim, Y.S., King, R.A., Koh, Y.J., Kook, S., Kuperman, S., Leventhal, B.L., Ludolph, A.G., Madruga-Garrido, M., Mandell, J.D., Maras, A., Mir, P., Morer, A., Morris, M.T., Müller-Vahl, K., Münchau, A., Murphy, T.L., Nasello, C., Plessen, K.J., Poisner, H., Roessner, V., Sanders, S.J., Shin, E.Y., Song, D.H., Song, J., State, M.W., Sun, N., Thackray, J.K., Tischfield, J.A., Tübing, J., Visscher, F., Wanderer, S., Wang, S., Willsey, A.J., Woods, M., Xing, J., Zhang, Y., Zhao, X., Zinner, S.H., Androutsos, C., Barta, C., Farkas, L., Fichna, J., Georgitsi, M., Janik, P., Karagiannidis, I., Koumoula, A., Nagy, P., Paschou, P., Puchala, J., Rizzo, R., Szejko, N., Szymanska, U., Tarnok, Z., Tsironi, V., Wolanczyk, T., Zekanowski, C., Barr, C.L., Batterson, J.R., Berlin, C., Bruun, R.D., Budman, C.L., Cath, D.C., Chouinard, S., Coppola, G., Cox, N.J., Darrow, S., Davis, L.K., Dion, Y., Freimer, N.B., Grados, M.A., Hirschtritt, M.E., Huang, A.Y., Illmann, C., Kurlan, R., Leckman, J.F., Lyon, G.J., Malaty, I.A., Mathews, C.A., MacMahon, W.M., Neale, B.M., Okun, M.S., Osiecki, L., Pauls, D.L., Posthuma, D., Ramensky, V., Robertson, M.M., Rouleau, G.A., Sandor, P., Scharf, J.M., Singer, H.S., Smit, J., Sul, J.H., and Yu, D.

Subjects
Adult, Male, 0301 basic medicine, medicine.medical_specialty, DNA Copy Number Variations, Receptors, Cell Surface, Biology, Genome, Article, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, 0302 clinical medicine, RARE, SCHIZOPHRENIA, medicine, Humans, Copy-number variation, Child, NEURODEVELOPMENTAL DISORDERS, Gene, lcsh:QH301-705.5, Exome sequencing, 030304 developmental biology, Medicinsk genetik, Sequence (medicine), Genetics, 0303 health sciences, SEVERE INTELLECTUAL DISABILITY, Cadherin, MUTATIONS, AUTISM SPECTRUM DISORDER, Cell Polarity, OBSESSIVE-COMPULSIVE DISORDER, Cadherins, medicine.disease, Pedigree, PREVALENCE, CONGENITAL HEART-DISEASE, GENOME, 030104 developmental biology, lcsh:Biology (General), Schizophrenia, Medical genetics, Female, Cadherins/genetics, Receptors, Cell Surface/genetics, Tourette Syndrome/genetics, Tourette Syndrome/pathology, TIC Genetics, Tourette disorder, cell polarity, copy number variants, de novo variants, gene discovery, microarray genotyping, multiplex, simplex, whole exome sequencing, Medical Genetics, 030217 neurology & neurosurgery, Tourette Syndrome
Abstract

SUMMARY We previously established the contribution of de novo damaging sequence variants to Tourette disorder (TD) through whole-exome sequencing of 511 trios. Here, we sequence an additional 291 TD trios and analyze the combined set of 802 trios. We observe an overrepresentation of de novo damaging variants in simplex, but not multiplex, families; we identify a high-confidence TD risk gene, CELSR3 (cadherin EGF LAG seven-pass G-type receptor 3); we find that the genes mutated in TD patients are enriched for those related to cell polarity, suggesting a common pathway underlying pathobiology; and we confirm a statistically significant excess of de novo copy number variants in TD. Finally, we identify significant overlap of de novo sequence variants between TD and obsessive-compulsive disorder and de novo copy number variants between TD and autism spectrum disorder, consistent with shared genetic risk., In Brief Wang et al. expand their earlier exome-sequencing work in TD, adding 291 trios and conducting combined analyses suggesting de novo variants carry more risk in individuals with unaffected parents, establishing de novo structural variants as risk factors, identifying CELSR3 as a risk gene, and implicating cell polarity in pathogenesis., Graphical Abstract

Published
2018

41. Aripiprazole in treatment of Gilles de la Tourette syndrome – New therapeutic option

Author

Natalia Szejko and Piotr Janik

Subjects
Oncology, medicine.medical_specialty, Tics, Aripiprazole, Partial agonist, Tourette syndrome, 03 medical and health sciences, 0302 clinical medicine, Double-Blind Method, Dopamine receptor D2, Internal medicine, medicine, Humans, Bipolar disorder, Psychiatry, Adverse effect, business.industry, medicine.disease, 030227 psychiatry, Schizophrenia, Tic Disorders, Surgery, Neurology (clinical), business, 030217 neurology & neurosurgery, Tourette Syndrome, medicine.drug
Abstract

Aripiprazole is a dopamine D2- and serotonin 5-hydroxytryptamine (5-HT)1A receptor partial agonist and 5-HT2A receptor antagonist primarily used for the treatment of schizophrenia, bipolar disorder or depression with psychotic ideation. However, recently a number of new possible indications have been suggested, among them Gilles de la Tourette syndrome (GTS). In two randomized, double-blind, placebo-controlled studies in children and adolescents with GTS has been confirmed the efficacy of aripiprazole in tic reduction. In comparison to other neuroleptics, aripiprazole seems to be similarly effective. What is more, the number and profile of possible adverse effects is also favorable. As a consequence, aripiprazole had been registered by Food and Drug Administration (FDA) for the treatment of tics and represents new therapeutic option in treatment of GTS.

Published
2018

42. Motor neurons loss in Parkinson Disease: An electrophysiological study (MUNE)

Author

Ewa Zalewska, Martyna Mes, Piotr Janik, and Malgorzata Gawel

Subjects
Motor Neurons, medicine.medical_specialty, Foot, business.industry, Lower motor neuron involvement, Biophysics, Neuroscience (miscellaneous), Action Potentials, Parkinson Disease, Disease, Motor neuron, Lower motor neuron, Motor unit, Electrophysiology, Physical medicine and rehabilitation, medicine.anatomical_structure, Abducens Nerve, medicine, Humans, Peripheral motor neuron, Motor unit number estimation, Neurology (clinical), Muscle, Skeletal, business
Abstract

The aim of this study was to evaluate the involvement of a peripheral motor neuron in Parkinson Disease (PD) using the motor unit number estimation (MUNE) method, which reflects motor unit loss in motor neuron diseases. Multipoint incremental MUNE method was calculated in abductor pollicis brevis (APB) and abductor digiti minimi (ADM) in forty one (41) patients with PD and forty five (45) healthy volunteers. From the analysis, the MUNE of APB was lower in PD than in the control group, especially in the sub-group aged 60 years or older. MUNE was negatively correlated with the age of patients for APB, but not with the duration of the disease and advancement of PD. The loss of motor units in sporadic Parkinson's disease revealed by multipoint incremental MUNE method is considered a sign of lower motor neuron involvement, however, loss of motor neurons is slight and does not manifest equally in all muscles . Thus, the results from this experiment should be treated with concern, as it could be a landmark for further experiments.

Published
2021

45. Identification of genetic variants associated with Huntington's disease progression

Author

Davina J Hensman Moss, Antonio F Pardiñas, Douglas Langbehn, Kitty Lo, Blair R Leavitt, Raymund Roos, Alexandra Durr, Simon Mead, Peter Holmans, Lesley Jones, Sarah J Tabrizi, A Coleman, R Dar Santos, J Decolongon, A Sturrock, E Bardinet, C Jauff Ret, D Justo, S Lehericy, C Marelli, K Nigaud, R Valabrègue, SJA van den Bogaard, E M Dumas, J van der Grond, EP t'Hart, C Jurgens, M-N Witjes-Ane, N Arran, J Callaghan, C Stopford, C Frost, R Jones, N Hobbs, N Lahiri, R Ordidge, G Owen, T Pepple, J Read, M Say, E Wild, A Patel, N C Fox, C Gibbard, I Malone, H Crawford, D Whitehead, S Keenan, D M Cash, C Berna, N Bechtel, S Bohlen, A Hoff Man, P Kraus, E Axelson, C Wang, T Acharya, S Lee, W Monaco, C Campbell, S Queller, K Whitlock, M Campbell, E Frajman, C Milchman, A O'Regan, I Labuschagne, J Stout, B Landwehrmeyer, D Craufurd, R Scahill, S Hicks, C Kennard, H Johnson, A Tobin, HD Rosas, R Reilmann, B Borowsky, C Pourchot, S C Andrews, Anne-Catherine Bachoud-Lévi, Anna Rita Bentivoglio, Ida Biunno, Raphael Bonelli, Jean-Marc Burgunder, Stephen Dunnett, Joaquim Ferreira, Olivia Handley, Arvid Heiberg, Torsten Illmann, G. Bernhard Landwehrmeyer, Jamie Levey, Maria A. Ramos-Arroyo, Jørgen Nielsen, Susana Pro Koivisto, Markku Päivärinta, Raymund A.C. Roos, A Rojo Sebastián, Sarah Tabrizi, Wim Vandenberghe, Christine Verellen-Dumoulin, Tereza Uhrova, Jan Wahlström, Jacek Zaremba, Verena Baake, Katrin Barth, Monica Bascuñana Garde, Sabrina Betz, Reineke Bos, Jenny Callaghan, Adrien Come, Leonor Correia Guedes, Daniel Ecker, Ana Maria Finisterra, Ruth Fullam, Mette Gilling, Lena Gustafsson, Olivia J Handley, Carina Hvalstedt, Christine Held, Kerstin Koppers, Claudia Lamanna, Matilde Laurà, Asunción Martínez Descals, Saül Martinez-Horta, Tiago Mestre, Sara Minster, Daniela Monza, Lisanne Mütze, Martin Oehmen, Michael Orth, Hélène Padieu, Laurent Paterski, Nadia Peppa, Martina Di Renzo, Amandine Rialland, Niini Røren, Pavla Šašinková, Erika Timewell, Jenny Townhill, Patricia Trigo Cubillo, Wildson Vieira da Silva, Marleen R van Walsem, Carina Whalstedt, Marie-Noelle Witjes-Ané, Grzegorz Witkowski, Abigail Wright, Daniel Zielonka, Eugeniusz Zielonka, Paola Zinzi, Raphael M. Bonelli, Sabine Lilek, Karen Hecht, Brigitte Herranhof, Anna Holl, Hans-Peter Kapfhammer, Michael Koppitz, Markus Magnet, Nicole Müller, Daniela Otti, Annamaria Painold, Karin Reisinger, Monika Scheibl, Helmut Schöggl, Jasmin Ullah, Eva-Maria Braunwarth, Florian Brugger, Lisa Buratti, Eva-Maria Hametner, Caroline Hepperger, Christiane Holas, Anna Hotter, Anna Hussl, Christoph Müller, Werner Poewe, Klaus Seppi, Fabienne Sprenger, Gregor Wenning, Andrea Boogaerts, Godelinde Calmeyn, Isabelle Delvaux, Dirk Liessens, Nele Somers, Michel Dupuit, Cécile Minet, Dominique van Paemel, Pascale Ribaï, Dimphna van Reijen, Jirí Klempír, Veronika Majerová, Jan Roth, Irena Stárková, Lena E. Hjermind, Oda Jacobsen, Jørgen E. Nielsen, Ida Unmack Larsen, Tua Vinther-Jensen, Heli Hiivola, Hannele Hyppönen, Kirsti Martikainen, Katri Tuuha, Philippe Allain, Dominique Bonneau, Marie Bost, Bénédicte Gohier, Marie-Anne Guérid, Audrey Olivier, Adriana Prundean, Clarisse Scherer-Gagou, Christophe Verny, Blandine Babiloni, Sabrina Debruxelles, Charlotte Duché, Cyril Goizet, Laetitia Jameau, Danielle Lafoucrière, Umberto Spampinato, Rekha Barthélémy, Christelle De Bruycker, Maryline Cabaret Anne-Sophie Carette, Eric Decorte Luc Defebvre, Marie Delliaux, Arnaud Delval, Alain Destee, Kathy Dujardin, Marie-Hélène Lemaire, Sylvie Manouvrier, Mireille Peter, Lucie Plomhouse, Bernard Sablonnière, Clémence Simonin, Stéphanie Thibault-Tanchou, Isabelle Vuillaume, Marcellin Bellonet, Hassan Berrissoul, Stéphanie Blin, Françoise Courtin, Cécile Duru, Véronique Fasquel, Olivier Godefroy, Pierre Krystkowiak, Béatrice Mantaux, Martine Roussel, Sandrine Wannepain, Jean-Philippe Azulay, Marie Delfini, Alexandre Eusebio, Frédérique Fluchere, Laura Mundler, Mathieu Anheim, Celine Julié, Ouhaid Lagha Boukbiza, Nadine Longato, Gabrielle Rudolf, Christine Tranchant, Marie-Agathe Zimmermann, Christoph Michael Kosinski, Eva Milkereit, Daniela Probst, Kathrin Reetz, Christian Sass, Johannes Schiefer, Christiane Schlangen, Cornelius J. Werner, Harald Gelderblom, Josef Priller, Harald Prüß, Eike Jakob Spruth, Gisa Ellrichmann, Lennard Herrmann, Rainer Hoffmann, Barbara Kaminski, Peter Kotz, Christian Prehn, Carsten Saft, Herwig Lange, Robert Maiwald, Matthias Löhle, Antonia Maass, Simone Schmidt, Cecile Bosredon, Alexander Storch, Annett Wolz, Martin Wolz, Philipp Capetian, Johann Lambeck, Birgit Zucker, Kai Boelmans, Christos Ganos, Walburgis Heinicke, Ute Hidding, Jan Lewerenz, Alexander Münchau, Jenny Schmalfeld, Lars Stubbe, Simone Zittel, Gabriele Diercks, Dirk Dressler, Heike Gorzolla, Christoph Schrader, Pawel Tacik, Michael Ribbat, Bernhard Longinus, Katrin Bürk, Jens Carsten Möller, Ida Rissling, Mark Mühlau, Alexander Peinemann, Michael Städtler, Adolf Weindl, Juliane Winkelmann, Cornelia Ziegler, Natalie Bechtel, Heike Beckmann, Stefan Bohlen, Eva Hölzner, Ralf Reilmann, Stefanie Rohm, Silke Rumpf, Sigrun Schepers, Natalia Weber, Matthias Dose, Gabriele Leythäuser, Ralf Marquard, Tina Raab, Alexandra Wiedemann, Andrea Buck, Julia Connemann, Carolin Geitner, Andrea Kesse, Bernhard Landwehrmeyer, Christina Lang, Franziska Lezius, Solveig Nepper, Anke Niess, Ariane Schneider, Daniela Schwenk, Sigurd Süßmuth, Sonja Trautmann, Patrick Weydt, Claudia Cormio, Vittorio Sciruicchio, Claudia Serpino, Marina de Tommaso, Sabina Capellari, Pietro Cortelli, Roberto Galassi, Giovanni Rizzo, Roberto Poda, Cesa Scaglione, Elisabetta Bertini, Elena Ghelli, Andrea Ginestroni, Francesca Massaro, Claudia Mechi, Marco Paganini, Silvia Piacentini, Silvia Pradella, Anna Maria Romoli, Sandro Sorbi, Giovanni Abbruzzese, Monica Bandettini di Poggio, Giovanna Ferrandes, Paola Mandich, Roberta Marchese, Alberto Albanese, Daniela Di Bella, Anna Castaldo, Stefano Di Donato, Cinzia Gellera, Silvia Genitrini, Caterina Mariotti, Lorenzo Nanetti, Dominga Paridi, Paola Soliveri, Chiara Tomasello, Giuseppe De Michele, Luigi Di Maio, Marco Massarelli, Silvio Peluso, Alessandro Roca, Cinzia Valeria Russo, Elena Salvatore, Pierpaolo Sorrentino, Enrico Amico, Mariagrazia Favellato, Annamaria Griguoli, Irene Mazzante, Martina Petrollini, Ferdinando Squitieri, Barbara D'Alessio, Chiara Esposito, Rita Bentivoglio, Marina Frontali, Arianna Guidubaldi, Tamara Ialongo, Gioia Jacopini, Carla Piano, Silvia Romano, Francesco Soleti, Maria Spadaro, Monique S.E. van Hout, Marloes E. 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D., Reilmann, R., Borowsky, B., Pourchot, C., Andrews, S. C., Bachoud-Lévi, Anne-Catherine, Bentivoglio, Anna Rita, Biunno, Ida, Bonelli, Raphael, Burgunder, Jean-Marc, Dunnett, Stephen, Ferreira, Joaquim, Handley, Olivia, Heiberg, Arvid, Illmann, Torsten, Landwehrmeyer, G. Bernhard, Levey, Jamie, Ramos-Arroyo, Maria A., Nielsen, Jã¸rgen, Koivisto, Susana Pro, Pã¤ivã¤rinta, Markku, Roos, Raymund A. C., Sebastiã¡n, A. Rojo, Tabrizi, Sarah, Vandenberghe, Wim, Verellen-Dumoulin, Christine, Uhrova, Tereza, Wahlstrã¶m, Jan, Zaremba, Jacek, Baake, Verena, Barth, Katrin, Garde, Monica Bascuñana, Betz, Sabrina, Bos, Reineke, Callaghan, Jenny, Come, Adrien, Guedes, Leonor Correia, Ecker, Daniel, Finisterra, Ana Maria, Fullam, Ruth, Gilling, Mette, Gustafsson, Lena, Handley, Olivia J, Hvalstedt, Carina, Held, Christine, Koppers, Kerstin, Lamanna, Claudia, Laurã , Matilde, Descals, Asunción Martínez, Martinez-Horta, Saã¼l, Mestre, Tiago, Minster, Sara, Monza, Daniela, Mã¼tze, Lisanne, Oehmen, Martin, Orth, Michael, Padieu, Hã©lãne, Paterski, Laurent, Peppa, Nadia, Di Renzo, Martina, Rialland, Amandine, Rã¸ren, Niini, Å aå¡inkovã¡, Pavla, Timewell, Erika, Townhill, Jenny, Cubillo, Patricia Trigo, da Silva, Wildson Vieira, van Walsem, Marleen R, Whalstedt, Carina, Witjes-Ané, Marie-Noelle, Witkowski, Grzegorz, Wright, Abigail, Zielonka, Daniel, Zielonka, Eugeniusz, Zinzi, Paola, Bonelli, Raphael M., Lilek, 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Natalie, Beckmann, Heike, Bohlen, Stefan, Hã¶lzner, Eva, Reilmann, Ralf, Rohm, Stefanie, Rumpf, Silke, Schepers, Sigrun, Weber, Natalia, Dose, Matthia, Leythã¤user, Gabriele, Marquard, Ralf, Raab, Tina, Wiedemann, Alexandra, Buck, Andrea, Connemann, Julia, Geitner, Carolin, Kesse, Andrea, Landwehrmeyer, Bernhard, Lang, Christina, Lezius, Franziska, Nepper, Solveig, Niess, Anke, Schneider, Ariane, Schwenk, Daniela, Sã¼ã muth, Sigurd, Trautmann, Sonja, Weydt, Patrick, Cormio, Claudia, Sciruicchio, Vittorio, Serpino, Claudia, de Tommaso, Marina, Capellari, Sabina, Cortelli, Pietro, Galassi, Roberto, Rizzo, Giovanni, Poda, Roberto, Scaglione, Cesa, Bertini, Elisabetta, Ghelli, Elena, Ginestroni, Andrea, Massaro, Francesca, Mechi, Claudia, Paganini, Marco, Piacentini, Silvia, Pradella, Silvia, Romoli, Anna Maria, Sorbi, Sandro, Abbruzzese, Giovanni, di Poggio, Monica Bandettini, Ferrandes, Giovanna, Mandich, Paola, Roberta, Marchese, Albanese, Alberto, Di Bella, Daniela, Castaldo, Anna, Di 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E., Verhoeven, Marloes E., van Vugt, Jeroen P. P., de Weert, A. Marit, Bolwijn, J. J. W., Dekker, M., Kremer, B., Leenders, K. L., van Oostrom, J. C. H., van den Bogaard, Simon J. A., Dumas, Eve M., â t Hart, Ellen P., Kremer, Berry, Verstappen, C. C. P., Aaserud, Olaf, Jan Frich, C., Wehus, Ragnhild, Bjã¸rgo, Kathrine, Fannemel, Madeleine, Gã¸rvell, Per F., Lorentzen, Eirin, Retterstã¸l, Lar, Stokke, Bodil, Bjã¸rnevoll, Inga, Sando, Sigrid Botne, Dziadkiewicz, Artur, Nowak, Malgorzata, Robowski, Piotr, Sitek, Emilia, Slawek, Jaroslaw, Soltan, Witold, Szinwelski, Michal, Blaszcyk, Magdalena, Boczarska-Jedynak, Magdalena, Ciach-Wysocka, Ewelina, Gorzkowska, Agnieszka, Jasinska-Myga, Barbara, Klodowska-Duda, Gabriela, Opala, Gregorz, Stompel, Daniel, Banaszkiewicz, Krzysztof, Bocwinska, Dorota, Bojakowska-Jaremek, Kamila, Dec, Malgorzata, Krawczyk, Malgorzata, Rudzinska, Monika, Szczygiel, Elzbieta, Szczudlik, Andrzej, Wasielewska, Anna, Wã³jcik, Magdalena, Bryl, Anna, Ciesielska, Anna, Klimberg, Aneta, Marcinkowski, Jerzy, Samara, Husam, Sempolowicz, Justyna, Gogol, Anna, Janik, Piotr, Kwiecinski, Hubert, Jamrozik, Zygmunt, Antczak, Jakub, Jachinska, Katarzyna, Krysa, Wioletta, Rakowicz, Maryla, Richter, Przemyslaw, Rola, Rafal, Ryglewicz, Danuta, Sienkiewicz-Jarosz, Halina, Stepniak, Iwona, Sulek, Anna, Zdzienicka, Elzbieta, Zieora-Jakutowicz, Karolina, Ferreira, Joaquim J, Coelho, Miguel, Mendes, Tiago, Valadas, Anabela, Andrade, Carlo, Gago, Miguel, Garrett, Carolina, Guerra, Maria Rosália, Herrera, Carmen Durán, Garcia, Patrocinio Moreno, Barbera, Miquel Aguilar, Guia, Dolors Badene, Hernanz, Laura Casa, Catena, Judit López, Ferrer, Pilar Quiléz, Sebastiã¡n, Ana Rojo, Carruesco, Gemma Tome, Bas, Jordi, Busquets, Nãºria, Calopa, Matilde, Robert, Misericordia Floriach, Viladrich, Celia Mareca, Idiago, Jesús Miguel Ruiz, Riballo, Antonio Villa, Cubo, Esther, Polo, Cecilia Gil, Mariscal, Natividad, Rivadeneyra, Perez Jessica, Barrero, Francisco, Morales, Bla, Fenollar, Marã­a, Garcã­a, Rocío García-Ramo, Ortega, Paloma, Villanueva, Clara, Alegre, Javier, Bascuã±ana, Mã³nica, Caldentey, Juan Garcia, Ventura, Marta Fatá, Ribas, Guillermo García, de Yébenes, Justo García, Moreno, José Luis López-Sendón, Frech, Fernando Alonso, Ruã­z, Pedro J. García, Martínez-Descals, Asunciã³n, Guerrero, Rosa, Artiga, María José Saiz, Sã¡nchez, Vicenta, Perea, María Fuensanta Noguera, Fortuna, Lorenza, Manzanares, Salvadora, Reinante, Gema, Torres, María Martirio Antequera, Moreau, Laura Vivanco, González González, Sonia, Guisasola, Luis Menéndez, Salvador, Carlo, Martã­n, Esther Suaréz San, Ramirez, Inés Legarda, Gorospe, Aranzazãº, Lopera, Mónica Rodriguez, Arques, Penelope Nava, Rodrã­guez, María José Torre, Pastor, Barbara Vive, Gaston, Itziar, Martinez-Jaurrieta, Maria Dolore, Moreno, Jose Manuel Garcia, Lucena, Carolina Mendez, Damas, Fatima, Cortegana, Hermoso Eva Pacheco, Peã±a, José Chacón, Redondo, Lui, Carrillo, Fã¡tima, Teresa Cáceres, Marã­a, Mir, Pablo, Suarez, María José Lama, Vargas-González, Laura, Bosca, Maria E., Brugada, Francisco Castera, Burguera, Juan Andre, Campos, Anabel, Vilaplana, Garcia Carmen Peiró, Berglund, Peter, Constantinescu, Radu, Fredlund, Gunnel, Høsterey-Ugander, Ulrika, Linnsand, Petra, Neleborn-Lingefjärd, Liselotte, Wentzel, Magnu, Loutfi, Ghada, Olofsson, Carina, Stattin, Eva-Lena, Westman, Laila, Wikstrã¶m, Birgitta, Stebler, Yanik, Kaelin, Alain, Romero, Irene, Schã¼pbach, Michael, Weber Zaugg, Sabine, Hauer, Maria, Gonzenbach, Roman, Jung, Hans H., Mihaylova, Violeta, Petersen, Jen, Jack, Roisin, Matheson, Kirsty, Miedzybrodzka, Zosia, Rae, Daniela, Simpson, Sheila A, Summers, Fiona, Ure, Alexandra, Vaughan, Vivien, Akhtar, Shahbana, Crooks, Jenny, Curtis, Adrienne, de Souza, Jenny, Piedad, John, Rickards, Hugh, Wright, Jan, Coulthard, Elizabeth, Gethin, Louise, Hayward, Beverley, Sieradzan, Kasia, Armstrong, Matthew, Barker, Roger A., O'Keefe, Deidre, Di Pietro, Anna, Fisher, Kate, Goodman, Anna, Hill, Susan, Kershaw, Ann, Mason, Sarah, Paterson, Nicole, Raymond, Lucy, Swain, Rachel, Guzman, Natalie Valle, Busse, Monica, Butcher, Cynthia, Clenaghan, Catherine, Hunt, Sarah, Jones, Una, Khalil, Hanan, Owen, Michael, Price, Kathleen, Rosser, Anne, Edwards, Maureen, Carrie, Ho, Hughes, Teresa, Mcgill, Marie, Pearson, Pauline, Porteous, Mary, Smith, Paul, Brockie, Peter, Foster, Jillian, Johns, Nicola, Mckenzie, Sue, Rothery, Jean, Thomas, Gareth, Yates, Shona, Burrows, Liz, Chu, Carol, Fletcher, Amy, Gallantrae, Deena, Hamer, Stephanie, Harding, Alison, Klã¶ppel, Stefan, Kraus, Alison, Laver, Fiona, Lewis, Monica, Longthorpe, Mandy, Markova, Ivana, Raman, Ashok, Robertson, Nicola, Silva, Mark, Thomson, Aileen, Wild, Sue, Yardumian, Pam, Evans, Carole, Gallentrae, Deena, Hobson, Emma, Jamieson, Stuart, Musgrave, Hannah, Rowett, Liz, Toscano, Jean, Bourne, Colin, Clapton, Jackie, Clayton, Carole, Dipple, Heather, Freire-Patino, Dawn, Grant, Janet, Gross, Diana, Hallam, Caroline, Middleton, Julia, Murch, Ann, Thompson, Catherine, Alusi, Sundu, Davies, Rhy, Foy, Kevin, Gerrans, Emily, Pate, Louise, Andrews, Thomasin, Dougherty, Andrew, Golding, Charlotte, Kavalier, Fred, Laing, Hana, Lashwood, Alison, Robertson, Dene, Ruddy, Deborah, Santhouse, Alastair, Whaite, Anna, Bruno, Stefania, Doherty, Karen, Haider, Salman, Hensman, Davina, Lahiri, Nayana, Novak, Marianne, Patel, Aakta, Rosser, Elisabeth, Taylor, Rachel, Warner, Thoma, Wild, Edward, Arran, Natalie, Bek, Judith, Craufurd, David, Hare, Marianne, Howard, Liz, Huson, Susan, Johnson, Liz, Jones, Mary, Murphy, Helen, Oughton, Emma, Partington-Jones, Lucy, Rogers, Dawn, Sollom, Andrea, Snowden, Julie, Stopford, Cheryl, Thompson, Jennifer, Trender-Gerhard, Iri, Verstraelen, Nichola, Westmoreland, Leann, Armstrong, Richard, Dixon, Kathryn, Nemeth, Andrea H, Siuda, Gill, Valentine, Ruth, David, Harrison, Hughes, Max, Parkinson, Andrew, Soltysiak, Beverley, Bandmann, Oliver, Bradbury, Alyson, Gill, Paul, Fairtlough, Helen, Fillingham, Kay, Foustanos, Isabella, Kazoka, Mbombe, O'Donovan, Kirsty, Taylor, Cat, Tidswell, Katherine, Quarrell, Oliver, Lau, Puay Ngoh, Pica, Emmanul, Tan, Louis, Amsterdam Neuroscience - Neurodegeneration, Neurology, Biologie Neurovasculaire et Mitochondriale Intégrée (BNMI), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Moss, Davina J Hensman, Lo, Kitty, Pardiñas, Antonio F, Santos, R Dar, Ret, C Jauff, Valabrègue, R., Witjes-Ane, M. -N., Man, A Hoff, Bachoud-Lévi, Anne-Catherine, Nielsen, Jørgen, Päivärinta, Markku, Sebastián, A Rojo, Wahlström, Jan, Garde, Monica Bascuñana, Laurà, Matilde, Descals, Asunción Martínez, Martinez-Horta, Saül, Mütze, Lisanne, Padieu, Hélène, Røren, Niini, Šašinková, Pavla, Witjes-Ané, Marie-Noelle, Müller, Nicole, Schöggl, Helmut, Müller, Christoph, Minet, Cécile, Ribaï, Pascale, Klempír, Jirí, Majerová, Veronika, Stárková, Irena, Nielsen, Jørgen E., Hyppönen, Hannele, Gohier, Bénédicte, Guérid, Marie-Anne, Duché, Charlotte, Lafoucrière, Danielle, Barthélémy, Rekha, Lemaire, Marie-Hélène, Sablonnière, Bernard, Simonin, Clémence, Thibault-Tanchou, Stéphanie, Blin, Stéphanie, Courtin, Françoise, Duru, Cécile, Fasquel, Véronique, Mantaux, Béatrice, Fluchere, Frédérique, Julié, Celine, Prüß, Harald, Löhle, Matthia, Münchau, Alexander, Bürk, Katrin, Möller, Jens Carsten, Mühlau, Mark, Städtler, Michael, Hölzner, Eva, Leythäuser, Gabriele, Süßmuth, Sigurd, Marchese, Roberta, DI MAIO, Luigi, ’t Hart, Ellen P., Bjørgo, Kathrine, Gørvell, Per F., Retterstøl, Lar, Bjørnevoll, Inga, Wójcik, Magdalena, Guerra, Maria Rosália, Herrera, Carmen Durán, Catena, Judit López, Ferrer, Pilar Quiléz, Sebastián, Ana Rojo, Busquets, Núria, Idiago, Jesús Miguel Ruiz, Fenollar, María, García, Rocío García-Ramo, Bascuñana, Mónica, Ventura, Marta Fatá, Ribas, Guillermo García, de Yébenes, Justo García, Moreno, José Luis López-Sendón, Ruíz, Pedro J García, Martínez-Descals, Asunción, Artiga, María José Saiz, Sánchez, Vicenta, Perea, María Fuensanta Noguera, Torres, María Martirio Antequera, González González, Sonia, Guisasola, Luis Menéndez, Martín, Esther Suaréz San, Ramirez, Inés Legarda, Gorospe, Aranzazú, Lopera, Mónica Rodriguez, Rodríguez, María José Torre, Peña, José Chacón, Carrillo, Fátima, Teresa Cáceres, María, Suarez, María José Lama, Vargas-González, Laura, Vilaplana, Garcia Carmen Peiró, Høsterey-Ugander, Ulrika, Neleborn-Lingefjärd, Liselotte, Wikström, Birgitta, Schüpbach, Michael, Ho, Carrie, Klöppel, Stefan, Harrison, David, Cardiff University, University of Iowa [Iowa City], University of British Columbia (UBC), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), UCL, Institute of Neurology [London], National Oceanography Centre [Southampton] (NOC), University of Southampton, Center for NeuroImaging Research-Human MRI Neuroimaging core facility for clinical research [ICM Paris] (CENIR), Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), IFR de Neuroimagerie Fonctionnelle (IFR 49), Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), CHU Amiens-Picardie, Laboratoire de Neurosciences Fonctionnelles et Pathologies - UR UPJV 4559 (LNFP), Université de Picardie Jules Verne (UPJV), CHirurgie, IMagerie et REgénération tissulaire de l’extrémité céphalique - Caractérisation morphologique et fonctionnelle - UR UPJV 7516 (CHIMERE), TRACK-HD investigators, Pardinas, Antonio F, Langbehn, Douglas, Lee, S Hong, TRACK-HD Investigators, and REGISTRY Investigators

Subjects
0301 basic medicine, Oncology, Registrie, Genome-wide association study, Longitudinal Studie, Disease, Bioinformatics, Severity of Illness Index, Principal Component Analysi, Longitudinal Studies, Registries, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, Huntington disease, DNA-Binding Proteins, Settore MED/26 - NEUROLOGIA, Adult, Genome-Wide Association Study, Humans, Huntington Disease, MutS Homolog 3 Protein, Principal Component Analysis, Disease Progression, Neurology (clinical), huntingtin gene, age of onest, Huntington’s disease, Human, medicine.medical_specialty, cag repeat, instability, DNA-Binding Protein, Clinical Neurology, Principal component analysis, Single-nucleotide polymorphism, Biology, 03 medical and health sciences, Huntington's disease, Internal medicine, medicine, SNP, genome-wide association study, medicine.disease, R1, meta-analysis, Minor allele frequency, 030104 developmental biology, Age of onset, Trinucleotide repeat expansion, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract

Background Huntington's disease is caused by a CAG repeat expansion in the huntingtin gene, HTT. Age at onset has been used as a quantitative phenotype in genetic analysis looking for Huntington's disease modifiers, but is hard to define and not always available. Therefore, we aimed to generate a novel measure of disease progression and to identify genetic markers associated with this progression measure. Methods We generated a progression score on the basis of principal component analysis of prospectively acquired longitudinal changes in motor, cognitive, and imaging measures in the 218 indivduals in the TRACK-HD cohort of Huntington's disease gene mutation carriers (data collected 2008–11). We generated a parallel progression score using data from 1773 previously genotyped participants from the European Huntington's Disease Network REGISTRY study of Huntington's disease mutation carriers (data collected 2003–13). We did a genome-wide association analyses in terms of progression for 216 TRACK-HD participants and 1773 REGISTRY participants, then a meta-analysis of these results was undertaken. Findings Longitudinal motor, cognitive, and imaging scores were correlated with each other in TRACK-HD participants, justifying use of a single, cross-domain measure of disease progression in both studies. The TRACK-HD and REGISTRY progression measures were correlated with each other (r=0·674), and with age at onset (TRACK-HD, r=0·315; REGISTRY, r=0·234). The meta-analysis of progression in TRACK-HD and REGISTRY gave a genome-wide significant signal (p=1·12 × 10−10) on chromosome 5 spanning three genes: MSH3, DHFR, and MTRNR2L2. The genes in this locus were associated with progression in TRACK-HD (MSH3 p=2·94 × 10−8 DHFR p=8·37 × 10−7 MTRNR2L2 p=2·15 × 10−9) and to a lesser extent in REGISTRY (MSH3 p=9·36 × 10−4 DHFR p=8·45 × 10−4 MTRNR2L2 p=1·20 × 10−3). The lead single nucleotide polymorphism (SNP) in TRACK-HD (rs557874766) was genome-wide significant in the meta-analysis (p=1·58 × 10−8), and encodes an aminoacid change (Pro67Ala) in MSH3. In TRACK-HD, each copy of the minor allele at this SNP was associated with a 0·4 units per year (95% CI 0·16–0·66) reduction in the rate of change of the Unified Huntington's Disease Rating Scale (UHDRS) Total Motor Score, and a reduction of 0·12 units per year (95% CI 0·06–0·18) in the rate of change of UHDRS Total Functional Capacity score. These associations remained significant after adjusting for age of onset. Interpretation The multidomain progression measure in TRACK-HD was associated with a functional variant that was genome-wide significant in our meta-analysis. The association in only 216 participants implies that the progression measure is a sensitive reflection of disease burden, that the effect size at this locus is large, or both. Knockout of Msh3 reduces somatic expansion in Huntington's disease mouse models, suggesting this mechanism as an area for future therapeutic investigation. Funding The European Commission FP7 NeurOmics project; CHDI Foundation; the Medical Research Council UK; the Brain Research Trust; and the Guarantors of Brain.

Published
2017

46. Dystonic tics in patients with Gilles de la Tourette syndrome

Author

Natalia Szejko, Piotr Janik, Andrzej Jakubczyk, and Anna Dunalska

Subjects
Adult, Male, Pediatrics, medicine.medical_specialty, Tics, Adolescent, Oculogyric crisis, Blepharospasm, Tourette syndrome, 03 medical and health sciences, Young Adult, 0302 clinical medicine, 0502 economics and business, medicine, Humans, Prospective Studies, Child, Dystonia, business.industry, 05 social sciences, medicine.disease, Trunk, Tic Disorders, Ambulatory, Cohort, 050211 marketing, Surgery, Neurology (clinical), Poland, medicine.symptom, business, 030217 neurology & neurosurgery, Tourette Syndrome
Abstract

Clinical rationale for the study. Gilles de la Tourette syndrome (GTS) is a childhood onset disorder characterised by motor and vocal tics. Different types of motor tics may occur in GTS, including dystonic tics (DTs). Although DTs have been recognised as part of GTS symptomatology, little is known about their risk factors or about how often and at what age they appear in affected individuals. Aim of the study. The aim of our study was to investigate lifetime prevalence and clinical correlations of DTs in a Polish cohort of GTS patients. Material and methods. We performed a prospective, one-registration study in a cohort of 207 consecutive ambulatory patients (mean age: 16.5 ± 9.4 years, 131 children, 162 males) with GTS. Duration of GTS was 9.0 ± 8.0 years (range: 1–39 years). DTs were diagnosed during the interview. DTs were defined as slower and lasting longer than typical clonic tics, abnormal dystonia-like movements that led to a sustained, but not fixed, posture. Results. DTs occurred at some point in the lifetime of 73.9% (n = 153) of patients. The prevalence of DTs in adults and children was almost the same (p = 0.963). Age at onset of DTs was 9.9 ± 5.2 years with the most frequent onset in children (7–11 years, 74.4%, n = 64), followed by adolescence (12–18 years; 17.4%, n = 15) and adulthood (≥ 18 years, 8.1%, n = 7). DTs occurred 3.7 ± 4.2 years after tic onset. On average, patients suffered from 1.8 ± 1.7 types of DTs. The most frequent manifestations of DTs were: eyes (tightening resembling blepharospasm 84.3%, n = 129 and oculogyric crisis 45.8%, n = 70), trunk (dystonic postures 59.5%, n = 91), jaw (bruxism 34.6%, n = 53), neck (30.7%, n = 47), upper limb (26.1%, n = 40), and foot (20.9%, n = 32). Multivariate logistic regression analysis showed significant associations of DTs with the total number of simple, and the total number of complex, tics. Conclusions and clinical implications. DTs are early and frequent symptoms of GTS. They tend to localise in the facial area. DTs occur more frequently in individuals with a higher number of tics and probably add to the global impairment caused by tics.

Published
2019

48. Characteristics and clinical correlates of white matter changes in brain magnetic resonance of migraine females

Author

Monika Zając-Mnich, Piotr Janik, and Iwona Rościszewska-Żukowska

Subjects
Male, medicine.medical_specialty, Hyperhomocysteinemia, Magnetic Resonance Spectroscopy, Homocysteine, Aura, Migraine Disorders, Fluid-attenuated inversion recovery, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Internal medicine, medicine, Humans, 030212 general & internal medicine, business.industry, Brain, medicine.disease, Magnetic Resonance Imaging, White Matter, Hyperintensity, Migraine with aura, chemistry, Migraine, Surgery, Female, Neurology (clinical), Age of onset, medicine.symptom, business, 030217 neurology & neurosurgery
Abstract

Objective White matter hyperintensities (WMHs) were often found in migraine patients. The aim of study was to characterize WMHs, assess their prevalence, determine relationship to clinical symptoms and homocysteine levels in migraine females. Methods 69 women 38 with migraine without aura (MO), 31 with migraine with aura (MA) who underwent brain MRI with 1.5T scanner were enrolled. The WMHs number, location and size in FLAIR sequence were evaluated. Migraine severity was measured by pain intensity, number of attacks per month and MIDAS scale. Results WMHs were found in 39.1% females. There was no WMHs and migraine type correlation. The total WMHs number was higher in MO (p = 0.027). Patients with WMHs were older (p = 0.025), have higher BMI (p = 0.042), suffered longer (p = 0.001), more often had positive pregnancy history (p = 0.010) and less frequent prodromal symptoms. The age of onset, migraine's severity and homocysteine did not correlate with WMHs. No effect of antimigraine medication and oral contraceptive pills (OCP) was found. Both in MO and MA groups WMHs were located only supratentorially. In MO females WMHs were mainly located in one cerebral hemisphere (p = 0.024) whereas in MA were found bilaterally. WMHs were most commonly located in the frontal lobes. In MO lesions were small ≤3 mm and present in almost all MO patients (p = 0.027). Conclusion WMHs are present in more than one third of migraine females, regardless of aura. WHMs are located supratentorially, subcortically and in the frontal lobes. Older age, longer disease's duration, obesity and positive history of pregnancy are main risk factors for WMHs. Symptomatology and migraine severity, hyperhomocysteinemia, OCP and anti-migraine medications do not increase WMHs.

Published
2018

49. P28-S Involvement of lower motor neurons in Parkinson’s Disease reflected in MUNE method

Author

Piotr Janik, Malgorzata Gawel, Martyna Mes, and Elzbieta Zalewska

Subjects
Extensor digitorum brevis, medicine.medical_specialty, Parkinson's disease, business.industry, Neurodegeneration, Significant difference, Lower motor neuron involvement, Mean age, medicine.disease, Sensory Systems, Physical medicine and rehabilitation, Neurology, Physiology (medical), Peripheral neuron, medicine, Motor unit number estimation, Neurology (clinical), business
Abstract

Lower motoneuron degeneration are not among the characteristic features of Parkinson’s disease(PD), although there are single studies considering the peripheral neuron involvement in PD as a continuum of degenerative process. The aim of our study was to find out if possible lower motor neuron involvement in PD is reflected with the MUNE method (motor unit number estimation). Material and methods 41 patients with PD (mean age 62.6 yrs; 51%M) were included. The control group consisted of 45 healthy volunteers. MUNE with multipoint incremental method was calculated in the abductor pollicis brevis (APB), the abductor digiti minimi (ADM) and the extensor digitorum brevis (EDB). Results Significant difference in the number of motor units estimating by MUNE was found between groups aged 60 years or older in ADM comparing with control group (p Conclusions The loss of motor units in sporadic Parkinson’s disease revealed by the multipoint incremental MUNE method may be considered as a sign of lower motor neuron involvement and a feature of generalized neurodegeneration.

Published
2019

50. Przeżycie etyczne w badaniach Edyty Stein

Author

Piotr Janik

Subjects
motywacja, lcsh:Ethics, etyka, przeżycie etyczne, moral experience, ethics, phenomenology causality, motivation, lcsh:B, fenomenologia, przyczynowość, lcsh:Philosophy. Psychology. Religion, lcsh:BJ1-1725
Abstract

The expression “moral experience”, along with the concomitant notion of experience itself, seems to have been understood in divergent ways. Taking as a background three views currently operative in our culture - emotivism, the ethics of duty, and the notion of an ethics “beyond good and evil” - a conception of ethical experience will be presented based on the findings of Edith Stein as elaborated in her work "Philosophy of Psychology and the Humanities"., Wyrażenie „przeżycie etyczne” oraz odpowiadające mu doświadczenie bywa rozumiane rozmaicie. Na tle trzech aktualnie obecnych w kulturze poglądów: emotywizmu, etyki powinności i obowiązku, oraz etyki „poza dobrem i złem” przedstawiona zostaje koncepcja przeżycia etycznego sformułowana na podstawie wyników badań E. Stein z pracy „Filozofia psychologii i humanistyki”.

Published
2017

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