Article
Clinical Neurology
Fei Yang, Hui Li, Yi Dai, Ran Zhang, Jiang-tao Zhang
Summary: This case report describes a Chinese boy with a novel nonsense variant in the IRF2BPL gene, presenting with dystonia and dysarthria but with normal development and no seizures. Whole-exome sequencing identified a new mutation in IRF2BPL, expanding the phenotypes associated with this gene in the Chinese population and increasing awareness of patients with IRF2BPL.
Letter
Clinical Neurology
Francesca Antonelli, Gaetano Grieco, Francesco Cavallieri, Antonella Casella, Enza Maria Valente
Summary: Pathogenic variants of the IRF2BPL gene are mainly associated with early onset epileptic encephalopathy, but can also cause movement disorders such as dystonia and ataxia with symptoms developing primarily between childhood and adolescence.
PARKINSONISM & RELATED DISORDERS
(2022)
Article
Genetics & Heredity
Akgun Olmez, Gokhan Ozan Cetin, Kadri Karaer
Summary: Hereditary spastic paraplegias (HSP) are a group of neurodegenerative disorders characterized by progressive gait impairment and lower extremity spasticity. There are more than 80 defined types of HSP. Genetic testing and imaging results are crucial for diagnosis.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2022)
Article
Multidisciplinary Sciences
Paul C. Marcogliese, Debdeep Dutta, Shrestha Sinha Ray, Nghi D. P. Dang, Zhongyuan Zuo, Yuchun Wang, Di Lu, Fatima Fazal, Thomas A. Ravenscroft, Hyunglok Chung, Oguz Kanca, JiJun Wan, Emilie D. Douine, Undiagnosed Diseases Network, Loren D. M. Pena, Shinya Yamamoto, Stanley F. Nelson, Matthew Might, Kathrin C. Meyer, Nan Cher Yeo, Hugo J. Bellen
Summary: Truncation of IRF2BPL leads to severe childhood-onset neurodegenerative disorders. Through studies in Drosophila and zebrafish, it has been found that IRF2BPL can repress Wnt transcription, and dysregulation of Wnt signaling is associated with neural dysfunction and axonal loss.
Article
Clinical Neurology
Cinzia Costa, Karen L. Oliver, Carmen Calvello, Jillian M. Cameron, Valentina Imperatore, Laura Tonelli, Davide Colavito, Silvana Franceschetti, Laura Canafoglia, Samuel F. Berkovic, Paolo Prontera
Summary: Progressive myoclonus epilepsies (PMEs) are a diverse group of neurodegenerative disorders that typically occur in late childhood. Through genome-wide molecular studies, pathogenic variants in the IRF2BPL gene were identified in patients with PME, suggesting its involvement in the disease. These findings expand the phenotypic spectrum of IRF2BPL-related disorders and highlight the importance of considering this gene in the diagnosis of patients with PME.
Article
Clinical Neurology
M. Grofik, M. Cibulka, J. Oleksakova, M. Turcanova Koprusakova, T. Galanda, J. Necpal, P. Jungova, E. Kurca, J. Winkelmann, M. Zech, R. Jech
Summary: This article presents a case of DYT6 dystonia associated with a newly discovered mutation in the THAP1 gene. The patient experienced complications, including early intracerebral hemorrhage and delayed epileptic seizures, during the deep brain stimulation (DBS) treatment. The study highlights the importance of carefully considering the therapeutic benefits and potential risks of DBS for DYT6 dystonia.
Article
Clinical Neurology
Elena Gardella, Roberto Michelucci, Hanne M. Christensen, Christina D. Fenger, Chiara Reale, Patrizia Riguzzi, Elena Pasini, Luca Albini-Riccioli, Valentina Papa, Maria Pia Foschini, Giovanna Cenacchi, Francesca Furia, Dragan Marjanovic, Trine B. Hammer, Rikke S. Moller, Guido Rubboli
Summary: IRF2BPL has been identified as a new cause of neurodevelopmental disorders, presenting with multisystemic regression, epilepsy, cerebellar symptoms, dysphagia, dystonia, and pyramidal signs. This study describes a novel IRF2BPL phenotype consistent with progressive myoclonus epilepsy (PME) in three subjects and reviews previous cases. The findings suggest that PME can be an additional phenotype within the spectrum of IRF2BPL-related disorders and IRF2BPL as a novel causative gene for PME.
Article
Medicine, Research & Experimental
Yiying Zhang, Chang Liu, Xin He, Zhaohui Tang, Qulian Guo, Changsheng Huang
Summary: This article presents a peculiar case of post-operative conversion aphonia in a pediatric patient, highlighting the significance of discussing its presentation. It emphasizes the need for emotional support immediately after surgery, especially for young patients with heightened anxiety.
Article
Clinical Neurology
Dirk Dressler, Eckart Altenmueller, Ralf Giess, Joachim K. Krauss, Fereshte Adib Saberi
Summary: This study aimed to determine the prevalence of dystonia and evaluate its importance for patients, therapy, and the healthcare system. The results showed that the prevalence of dystonia is higher than previously believed and varies among different types of dystonia.
JOURNAL OF NEUROLOGY
(2022)
Review
Medicine, General & Internal
Maja Rogic Vidakovic, Ivana Gunjaca, Josipa Bukic, Vana Kosta, Josko Soda, Ivan Konstantinovic, Braco Boskovic, Irena Bilic, Nikolina Rezic Muzinic
Summary: This narrative review provides a summary of the patho-neuro-physiological and genetic background of focal laryngeal dystonia (LD), as well as the standard treatment options and potential future therapies. It also presents two LD cases and discusses the diagnostic procedures and achievements in treatment.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Clinical Neurology
Liesanne M. Centen, David Pinter, Martje E. van Egmond, Holm Graessner, Norbert Kovacs, Anne Koy, Belen Perez-Duenas, Carola Reinhard, Marina A. J. Tijssen, Sylvia Boesch
Summary: This study evaluated the current state of dystonia management in Europe and found that accessibility was only considered "satisfactory" in nearly half of the surveyed countries, with over half of the countries facing challenging access to genetic and neurophysiological testing. Main oral medications and botulinum toxin were available in all countries, but deep brain stimulation (DBS) was easily accessible in only one-third of the countries. For pediatric dystonia, over half of the countries had experts and specific training available.
JOURNAL OF NEUROLOGY
(2023)
Review
Medicine, Research & Experimental
Yan-Feng Zhang, Yi-Zhu Wang, Xiao-Sheng Hao, Hong-Bo Zhang, Jiang-Tao Wang, Jian-Min Liang
Summary: PTU is a paroxysmal neurological disorder in infants that can be misdiagnosed as epilepsy. Video EEG monitoring and analysis can help differentiate between epileptic seizures and non-epileptic events.
JOURNAL OF INTERNATIONAL MEDICAL RESEARCH
(2021)
Article
Biochemistry & Molecular Biology
Andras Salamon, Zsofia Flora Nagy, Margit Pal, Mate Szabo, Adam Csosz, Laszlo Szpisjak, Gabriella Gardian, Denes Zadori, Marta Szell, Peter Klivenyi
Summary: This study investigated 121 patients and identified 209 different heterozygous variants in 24 genes, with nine of them confirmed to have clinical and genetic validity. Detailed genetic examination is crucial in understanding the causes of movement disorders.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Clinical Neurology
Rupesh Prasad, Anand Kumar, Abhishek Pathak, Varun Kumar Singh, Ashish Verma, R. N. Chaurasia, V. N. Mishra, Deepika Joshi
Summary: The study found that focal dystonias were the most common type in both idiopathic and non-idiopathic groups, while generalized dystonia was significantly more common in the non-idiopathic group. Acquired causes like drugs, perinatal insult were found to be the most common etiology in the non-idiopathic group.
NEUROLOGICAL SCIENCES
(2021)
Article
Clinical Neurology
Xiao-hang Qian, Xiao-ying Liu, Ze-yu Zhu, Shi-ge Wang, Xiao-xuan Song, Guang Chen, Jing-ying Wu, Hui-dong Tang, Li Cao
Summary: In this study, we identified a truncating de novo variant of IRF2BPL as a causative gene in the neurodevelopmental disorder of a Chinese girl. Impairment of the ubiquitin-proteasome pathway caused by this IRF2BPL mutation may play an important role in this neurodevelopmental disorder.
SEIZURE-EUROPEAN JOURNAL OF EPILEPSY
(2021)
Review
Psychology, Developmental
Per Andren, Ewgeni Jakubovski, Tara L. Murphy, Katrin Woitecki, Zsanett Tarnok, Sharon Zimmerman-Brenner, Jolande van de Griendt, Nanette Mol Debes, Paula Viefhaus, Sally Robinson, Veit Roessner, Christos Ganos, Natalia Szejko, Kirsten R. Mueller-Vahl, Danielle Cath, Andreas Hartmann, Cara Verdellen
Summary: Part II of the European clinical guidelines for Tourette syndrome and other tic disorders provides updated information and recommendations for psychological interventions, recommending Habit Reversal Training (HRT) and Exposure and Response Prevention (ERP) as first-line interventions for tic disorders. Cognitive interventions and third-wave interventions are currently not recommended as stand-alone treatments for tic disorders.
EUROPEAN CHILD & ADOLESCENT PSYCHIATRY
(2022)
Article
Clinical Neurology
Christos Ganos, Bassam Al-Fatly, Jan-Frederik Fischer, Juan-Carlos Baldermann, Christina Hennen, Veerle Visser-Vandewalle, Clemens Neudorfer, Davide Martino, Jing Li, Tim Bouwens, Linda Ackermanns, Albert F. G. Leentjens, Nadya Pyatigorskaya, Yulia Worbe, Michael D. Fox, Andrea A. Kuehn, Andreas Horn
Summary: Brain lesions can cause tic disorders and provide insights into tic pathophysiology. A study found that tic-inducing lesions were associated with a common network in the human brain, including the insular cortices, cingulate gyrus, striatum, globus pallidus internus, thalami, and cerebellum. Connecting deep brain stimulation electrodes to this network map predicted tic improvement. These findings suggest that this common brain network could be a promising therapeutic target for neuromodulation.
Review
Psychology, Developmental
Veit Roessner, Heike Eichele, Jeremy S. Stern, Liselotte Skov, Renata Rizzo, Nanette Mol Debes, Peter Nagy, Andrea E. Cavanna, Cristiano Termine, Christos Ganos, Alexander Muenchau, Natalia Szejko, Danielle Cath, Kirsten R. Mueller-Vahl, Cara Verdellen, Andreas Hartmann, Aribert Rothenberger, Pieter J. Hoekstra, Kerstin J. Plessen
Summary: The first European guidelines for Tourette Syndrome (TS) were published in 2011 by the European Society for the Study of Tourette Syndrome (ESSTS). The updated part on pharmacological treatment emphasizes the importance of psychoeducation and behavioral approaches as first-line treatments. Pharmacological treatment, particularly with dopamine blocking agents like aripiprazole, is indicated in some patients, especially when behavioral approaches are not effective or feasible. Treatment should be individualized based on the patient's needs, preferences, and co-existing conditions.
EUROPEAN CHILD & ADOLESCENT PSYCHIATRY
(2022)
Review
Psychology, Developmental
Natalia Szejko, Sally Robinson, Andreas Hartmann, Christos Ganos, Nanette M. Debes, Liselotte Skov, Martina Haas, Renata Rizzo, Jeremy Stern, Alexander Munchau, Virginie Czernecki, Andrea Dietrich, Tara L. Murphy, Davide Martino, Zsanett Tarnok, Tammy Hedderly, Kirsten R. Muller-Vahl, Danielle C. Cath
Summary: This article presents an updated version 2.0 of European clinical guidelines for Tourette syndrome and other tic disorders, focusing on assessment. The guidelines were developed through thorough literature screening, national guidelines supplementation, and expert discussions within ESSTS. Diagnostic changes between DSM-IV and DSM-5 classifications, recommendations for rating scales, and new information on differential diagnoses are highlighted. Additionally, a recent survey among ESSTS members on assessment in TS is discussed.
EUROPEAN CHILD & ADOLESCENT PSYCHIATRY
(2022)
Review
Psychology, Developmental
Natalia Szejko, Yulia Worbe, Andreas Hartmann, Veerle Visser-Vandewalle, Linda Ackermans, Christos Ganos, Mauro Porta, Albert F. G. Leentjens, Jan-Hinnerk Mehrkens, Daniel Huys, Juan Carlos Baldermann, Jens Kuhn, Carine Karachi, Cecile Delorme, Thomas Foltynie, Andrea E. Cavanna, Danielle Cath, Kirsten Mueller-Vahl
Summary: The European Society for the Study of Tourette Syndrome published guidelines for DBS treatment of TS in 2011, which were later updated based on current literature and expert survey. Results from studies show that the efficacy of DBS in TS may be influenced by methodological issues and placebo effects. Therefore, the efficacy and tolerability of DBS in TS remain open to debate.
EUROPEAN CHILD & ADOLESCENT PSYCHIATRY
(2022)
Article
Psychology, Developmental
Davide Martino, Irene Malaty, Kirsten Mueller-Vahl, Elaheh Nosratmirshekarlou, Tamara M. Pringsheim, David Shprecher, Christos Ganos
Summary: There is currently a lack of standardized definition for treatment failure in the management of tics, leading to unnecessary interventions. Through a Delphi approach, an expert consensus-based definition for treatment failure of tics was achieved. The definition is divided into behavioral and pharmacological treatments, with core components including lack of efficacy, adherence, and tolerability.
EUROPEAN CHILD & ADOLESCENT PSYCHIATRY
(2023)
Article
Clinical Neurology
Rosa Michaelis, Norbert Bruggemann, Georg Ebersbach, Christos Ganos, Alexander Munchau, Tamara Schmidt, Anne Weissbach, Uwe Schlegel, Stoyan Popkirov
Summary: Functional movement disorders have long been thought to be motor expressions of emotional turmoil, but are increasingly being understood through neurophysiological findings. A new questionnaire has been developed to quantify subjective complaints and implications associated with these disorders, providing a valuable tool for further research and treatment. The next step is to conduct a multicenter study to analyze the psychometric properties and factorial structure of this new instrument.
Review
Clinical Neurology
Lara M. Lange, Paulina Gonzalez-Latapi, Rajasumi Rajalingam, Marina A. J. Tijssen, Darius Ebrahimi-Fakhari, Carolin Gabbert, Christos Ganos, Rhia Ghosh, Kishore R. Kumar, Anthony E. Lang, Malco Rossi, Sterre van Der Veen, Bart van de Warrenburg, Tom Warner, Katja Lohmann, Christine Klein, Connie Marras
Summary: This study presents a new system for naming genetically determined movement disorders and provides an updated list of newly confirmed monogenic causes of movement disorders. The classification of certain genetic conditions has been refined, and a new category of mixed movement disorders has been introduced. These updated lists serve as a valuable resource for clinicians and researchers.
MOVEMENT DISORDERS
(2022)
Letter
Clinical Neurology
Tina Mainka, Lille Kurvits, Matej Skorvanek, Jan Necpal, Milan Grofik, Christos Ganos
Summary: This article presents five genetically confirmed cases of NPC and highlights backward leaning during gait as a useful diagnostic clue.
PARKINSONISM & RELATED DISORDERS
(2022)
Article
Biochemistry & Molecular Biology
Sokhna Haissatou Diaw, Christos Ganos, Simone Zittel, Kirstin Plotze-Martin, Leonora Kulikovskaja, Melissa Vos, Ana Westenberger, Aleksandar Rakovic, Katja Lohmann, Marija Dulovic-Mahlow
Summary: This study provides insights into the underlying mechanisms of iron accumulation in BPAN caused by WDR45 deficiency. By studying fibroblasts from a BPAN patient with a specific WDR45 variant, the researchers discovered impaired mitochondrial network, decreased levels of lysosomal proteins and enzymes, and altered autophagy in mutant cells. The findings suggest that WDR45 deficiency affects ferritinophagy and ferroptosis, leading to disturbed iron recycling.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Psychiatry
Peristera Paschou, Yin Jin, Kirsten Mueller-Vahl, Harald E. Moeller, 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 Mueller, Stefano Palmucci, Adriana Prato, Shukti Ramkiran, Federica Saia, Natalia Szejko, Renzo Torrecuso, Zeynep Tumer, Anne Uhlmann, Tanja Veselinovic, Tomasz Wolanczyk, Jade-Jocelyne Zouki, Pritesh Jain, Apostolia Topaloudi, Mary Kaka, Zhiyu Yang, Petros Drineas, Sophia Thomopoulos, Tonya White, Dick J. Veltman, Lianne Schmaal, Dan J. Stein, Jan Buitelaar, Barbara Franke, Odile van den Heuvel, Neda Jahanshad, Paul M. Thompson, Kevin J. Black
Summary: TS is characterized by multiple motor and vocal tics and high comorbidity rates with other neuropsychiatric disorders. The ENIGMA-TS working group aims to understand brain structure and function in TS and related disorders through collaborative efforts and transdiagnostic approaches.
FRONTIERS IN PSYCHIATRY
(2022)
Article
Clinical Neurology
Tamara Pringsheim, Christos Ganos, Christelle Nilles, Andrea E. E. Cavanna, Donald L. L. Gilbert, Erica Greenberg, Andreas Hartmann, Tammy Hedderly, Isobel Heyman, Holan Liang, Irene Malaty, Osman Malik, Nanette Mol Debes, Kirsten Muller Vahl, Alexander Munchau, Tara Murphy, Peter Nagy, Tamsin Owen, Renata Rizzo, Liselotte Skov, Jeremy Stern, Natalia Szejko, Yulia Worbe, Davide Martino
Summary: In 2020, there was a significant increase in referrals for young people with rapid onset of severe tic-like behaviors. A working group was formed to develop clinical criteria for the diagnosis of functional tic-like behaviors (FTLBs) to aid in recognition and diagnosis by healthcare professionals.
EUROPEAN JOURNAL OF NEUROLOGY
(2023)
Article
Psychology
Tina Mainka, Christos Ganos, Matthew R. Longo
Summary: Tactile distance perception is influenced by stimulus orientation, and skin stretch can cause tactile distances to be perceived as shorter. It is currently unknown whether there is a corrective top-down mechanism in estimating tactile distances.
JOURNAL OF EXPERIMENTAL PSYCHOLOGY-HUMAN PERCEPTION AND PERFORMANCE
(2023)
Article
Clinical Neurology
Lisette H. Koens, Marrit R. Klamer, Deborah A. Sival, Bettina Balint, Kailash P. Bhatia, Maria Fiorella Contarino, Martje E. van Egmond, Roberto Erro, Jennifer Friedman, Victor S. C. Fung, Christos Ganos, Manju A. Kurian, Anthony E. Lang, Eavan M. McGovern, Emmanuel Roze, Tom J. de Koning, Marina A. J. Tijssen
Summary: This article describes an easy-to-use clinical screening tool to help nonmovement disorder specialists recognize movement disorders in patients with inborn errors of metabolism (IEMs). Through scoring videos of 55 patients with different IEMs, informative tasks including walking, observations of the arms, and drawing a spiral were identified and incorporated into the screening tool. The study suggests that this tool can assist in selecting patients who should be referred to a movement disorder specialist for further evaluation and treatment.
MOVEMENT DISORDERS
(2023)
Review
Neurosciences
Sterre van der Veen, John N. Caviness, Yasmine E. M. Dreissen, Christos Ganos, Abubaker Ibrahim, Johannes H. T. M. Koelman, Ambra Stefani, Marina A. J. Tijssen
Summary: This review focuses on myoclonus and other jerky movements, providing an overview of their classification, clinical features, and the contribution of clinical neuro-physiology studies in supporting diagnosis and understanding the underlying pathophysiology. The differential diagnosis of myoclonus, including tics, is mainly based on clinical history and the ability to suppress the movements. Electrophysiological tests play a significant role in researching startle syndromes and assessing symptoms in restless legs syndrome and periodic leg movements during sleep, using validated scoring criteria and techniques such as polymyography and electromyography-electroencephalography.
CLINICAL NEUROPHYSIOLOGY PRACTICE
(2022)
Article
Clinical Neurology
Jun-Pyo Hong, Hanim Kwon, Euyhyun Park, Sun-Uk Lee, Chan-Nyoung Lee, Byung-Jo Kim, Ji-Soo Kim, Kun-Woo Park
Summary: In patients with mild-to-moderate PD, vestibular function assessed by video head-impulse tests appears relatively preserved and has minimal impact on the risk of falls. Risk of postural instability is associated with the severity of clinical symptoms in PD.
PARKINSONISM & RELATED DISORDERS
(2024)
Article
Clinical Neurology
Yaqin Xiang, XiuRong Huang, Qian Xu, Zhenhua Liu, Yase Chen, Qiying Sun, Junling Wang, Hong Jiang, Lu Shen, Xinxiang Yan, Beisha Tang, Jifeng Guo
Summary: Using the novel data-driven method DEBM, this study determined the sequence of several common biomarker changes in Parkinson's disease (PD). The left putamen was found to be the earliest biomarker to become abnormal, followed by the right putamen, CSF alpha-synuclein, right caudate, left caudate, and serum NfL. The estimated disease stages showed significant differences between PD and healthy controls, and achieved a high accuracy for distinguishing PD from HC.
PARKINSONISM & RELATED DISORDERS
(2024)
Article
Clinical Neurology
Yan Li, David J. McLernon, Carl E. Counsell, Angus D. Macleod
Summary: This study aimed to investigate the incidence and risk factors for institutionalisation in Parkinson's disease (PD) and atypical parkinsonism (AP). The study found that institutionalisation was more frequent in AP compared to PD and controls. Age, poorer cognition, and more-severe parkinsonian impairment were independent predictors of institutionalisation.
PARKINSONISM & RELATED DISORDERS
(2024)
