Article
Clinical Neurology
Jose Fidel Baizabal-Carvallo, Marlene Alonso-Juarez, Joseph Jankovic
Summary: This study reviewed the medical records and video recordings of 155 TS patients and found that 26.5% of them had OM tics. Compared to classic tardive dyskinesia, OM tics have different manifestations and are more commonly associated with oromandibular and eye-rolling movements. Therefore, it is important to differentiate between the two.
JOURNAL OF NEUROLOGY
(2023)
Article
Biochemistry & Molecular Biology
Roberto Cadeddu, Daniel E. Knutson, Laura J. Mosher, Stefanos Loizou, Karen Odeh, Janet L. Fisher, James M. Cook, Marco Bortolato
Summary: This study found that a novel drug targeting GABA(A) receptors, DK-I-56-1, effectively reduced tic-like jerks and PPI deficits in mouse models of Tourette syndrome, and prevented the adverse effects of dopamine. The drug showed similar effects to dopaminergic antagonists but did not elicit extrapyramidal symptoms.
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)
Review
Clinical Neurology
James Peters, Nirosen Vijiaratnam, Heather Angus-Leppan
Summary: This study reviewed the clinical spectrum of tic disorders induced by AED, including the types of AED implicated and the characteristics of the symptoms. The analysis revealed that multiple AEDs can induce tic disorders, suggesting that the cause is unlikely to be solely related to alterations in a single neurotransmitter, but rather a network imbalance influenced by various factors.
JOURNAL OF NEUROLOGY
(2021)
Article
Clinical Neurology
Jose Fidel Baizabal-Carvallo, Marlene Alonso-Juarez, Joseph Jankovic
Summary: Tics are rapid, recurrent, non-rhythmic movements or emitted sounds. This study compared tics associated with Tourette syndrome (TS) and secondary tic disorders (STD). It found that patients with TS had a younger age at onset, more severe and complex tics, and involvement of cranial-cervical muscles. Simple phonic tics showed the highest diagnostic accuracy for TS, but there was overlap in tic types and comorbidities between TS and STD patients.
JOURNAL OF NEURAL TRANSMISSION
(2023)
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)
Article
Multidisciplinary Sciences
Payton Beeler, Nicholas O. Jensen, Soyoung Kim, Amy Robichaux-Viehoever, Bradley L. Schlaggar, Deanna J. Greene, Kevin J. Black, Rajan K. Chakrabarty
Summary: The study confirms the fractal nature of tics, indicating correlation between neighboring time scales. The fractal dimension is correlated with tic severity and serves as a sensitive parameter for examining the effects of tic suppression conditions. This finding opens up new possibilities for utilizing the fractal nature of tics as a tool for assessing and treating tic disorders.
JOURNAL OF THE ROYAL SOCIETY INTERFACE
(2022)
Article
Nutrition & Dietetics
Chang-Chun Wu, Lee-Chin Wong, Chia-Jui Hsu, Chianne-Wen Yang, Ying-Chieh Tsai, Feng-Shiang Cheng, Hsiao-Yun Hu, Wang-Tso Lee
Summary: The study suggests that probiotics may not reduce tics in children with Tourette syndrome, but they may benefit comorbidities such as attention deficit and hyperactivity disorder. Further research is needed to clarify the effects of probiotics on the comorbidities of Tourette syndrome children.
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)
Article
Clinical Neurology
Jose Fidel Baizabal-Carvallo, Joseph Jankovic
Summary: This study aimed to characterize the frequency and features of blocking tics in patients with Tourette syndrome (TS). The results showed that approximately 6% of patients had blocking phenomena, with phonic tic intrusion causing speech arrest being the most common. Variables such as shoulder tics, leg tics, copropraxia, dystonic tics, simple phonic tics, and number of phonic tics per patient were statistically related to blocking phenomena. The presence of dystonic tics and a higher number of phonic tics were associated with blocking phenomena.
JOURNAL OF MOVEMENT DISORDERS
(2023)
Article
Clinical Neurology
Justyna Kaczynska, Piotr Janik
Summary: This study evaluated the prevalence, age of onset, and clinical correlates of blocking tics (BTs) in patients with Gilles de la Tourette syndrome (GTS). BTs represent early and common symptoms of GTS, associated with a more severe form of the syndrome.
FRONTIERS IN NEUROLOGY
(2021)
Article
Behavioral Sciences
Lina Schubert, Julius Verrel, Amelie Behm, Tobias Baeumer, Christian Beste, Alexander Muenchau
Summary: The study found that associations between urges and tics in patients with Gilles de la Tourette syndrome are complex and heterogeneous, with some individuals not showing the expected positive correlation, and even displaying negative associations. While most patients demonstrated a positive relationship between urges and tics, there were substantial inter-individual differences in these associations.
Article
Clinical Neurology
Simon Morand-Beaulieu, Michael J. Crowley, Heidi Grantz, James F. Leckman, Lawrence Scahill, Denis G. Sukhodolsky
Summary: Comprehensive Behavioral Intervention for Tics (CBIT) is an effective treatment for Tourette syndrome (TS), but its underlying brain mechanisms are not well understood. This study found no association between EEG coherence during a Go/NoGo task and CBIT outcome, suggesting that the brain processes involved in motor response inhibition may not play a role in CBIT.
CLINICAL NEUROPHYSIOLOGY
(2022)
Review
Psychology, Developmental
Kirsten R. Mueller-Vahl, Natalia Szejko, Cara Verdellen, Veit Roessner, Pieter J. Hoekstra, Andreas Hartmann, Danielle C. Cath
Summary: The European Society for the Study of Tourette syndrome (ESSTS) has updated the first European Guidelines for Tourette syndrome, covering assessment, psychological interventions, pharmacological treatment, and deep brain stimulation. Over the past decade, there has been a significant shift towards non-pharmacological treatments in the assessment and treatment of tics.
EUROPEAN CHILD & ADOLESCENT PSYCHIATRY
(2022)
Article
Health Care Sciences & Services
Jesjeet Singh Gill
Summary: This case report describes a young male with Tourette syndrome and comorbid major depressive disorder and ADHD who experienced troublesome side effects due to his existing medications. The patient's symptoms were effectively controlled and improved by switching risperidone to cariprazine and increasing the antidepressant dose.
Article
Biochemistry & Molecular Biology
Julian Nevado, Jill A. Rosenfeld, Rocio Mena, Maria Palomares-Bralo, Elena Vallespin, Maria Angeles Mori, Jair A. Tenorio, Karen W. Gripp, Elizabeth Denenberg, Miguel del Campo, Alberto Plaja, Ruben Martin-Arenas, Fernando Santos-Simarro, Lluis Armengol, Gordon Gowans, Maria Orera, M. Carmen Sanchez-Hombre, Esther Corbacho-Fernandez, Alberto Fernandez-Jaen, Chad Haldeman-Englert, Sulagna Saitta, Holly Dubbs, Duban B. Benedicte, Xia Li, Lani Devaney, Mary Beth Dinulos, Stephanie Vallee, M. Carmen Crespo, Blanca Fernandez, Victoria E. Fernandez-Montano, Inmaculada Rueda-Arenas, Maria Luisa de Torres, Jay W. Ellison, Salmo Raskin, Carlos A. Venegas-Vega, Fernando Fernandez-Ramirez, Alicia Delicado, Sixto Garcia-Minaur, Pablo Lapunzina
EUROPEAN JOURNAL OF HUMAN GENETICS
(2015)
Article
Clinical Neurology
Alberto Fernandez-Jaen, Sara Lopez-Martin, Jacobo Albert, Daniel Martin Fernandez-Mayoralas, Ana Laura Fernandez-Perrone, Mar Jimenez de La Pena, Beatriz Calleja-Perez, Manuel Recio Rodriguez, Sonia Lopez-Arribas, Nuria Munoz-Jareno
PSYCHIATRY RESEARCH-NEUROIMAGING
(2015)
Article
Psychology, Clinical
S. Lopez-Martin, J. Albert, A. Fernandez-Jaen, L. Carretie
PSYCHOLOGICAL MEDICINE
(2015)
Article
Clinical Neurology
Daniel Martin Fernandez-Mayoralas, Manuel Recio-Rodriguez, Ana Laura Fernandez-Perrone, Mar Jimenez-de-la-Pena, Nuria Munoz-Jareno, Alberto Fernandez-Jaen
JOURNAL OF CHILD NEUROLOGY
(2014)
Article
Clinical Neurology
Manuel Recio-Rodriguez, Daniel Martin Fernandez-Mayoralas, Alberto Fernandez-Jaen, Ana Laura Fernandez-Perrone, Raquel Cano-Alonso, Mar Jimenez-de-La-Pena
JOURNAL OF CHILD NEUROLOGY
(2014)
Article
Clinical Neurology
Alberto Fernandez-Jaen, Sara Lopez-Martin, Jacobo Albert, Daniel Martin Fernandez-Mayoralas, Ana Laura Fernandez-Perrone, Diana Quinones Tapia, Beatriz Calleja-Perez
PSYCHIATRY RESEARCH-NEUROIMAGING
(2014)
Article
Biochemistry & Molecular Biology
Syed K. Rafi, Alberto Fernandez-Jaen, Sara Alvarez, Owen W. Nadeau, Merlin G. Butler
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2019)
Article
Genetics & Heredity
Ichrak Drissi, Emily Fletcher, Ranad Shaheen, Michael Nahorski, Amal M. Alhashem, Steve Lisgo, Alberto Fernandez-Jaen, Katherine Schon, Kalthoum Tlili-Graiess, Sarah F. Smithson, Susan Lindsay, Hayley J. Sharpe, Fowzan S. Alkuraya, Geoff Woods
Summary: Holoprosencephaly is a developmental disorder with phenotypical variabilities primarily caused by mutations in the SHH pathway genes. Variants in the PLCH1 gene may also contribute to the disorder, possibly through protein mislocalisation leading to pathogenicity.
JOURNAL OF MEDICAL GENETICS
(2022)
Article
Environmental Sciences
Irene Rincon-Perez, Alberto J. Sanchez-Carmona, Susana Arroyo-Lozano, Carlos Garcia-Rubio, Jose Antonio Hinojosa, Alberto Fernandez-Jaen, Sara Lopez-Martin, Jacobo Albert
Summary: The study found that by the end of middle childhood, most children were able to selectively interrupt their ongoing responses. Older children were more efficient in canceling initiated responses, regardless of the strategy used, and showed improvements in other forms of impulsivity.
INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH
(2021)
Article
Biochemistry & Molecular Biology
Alyssa J. J. Paganoni, Federica Amoruso, Javier Porta Pelayo, Beatriz Calleja-Perez, Valeria Vezzoli, Paolo Duminuco, Alessia Caramello, Roberto Oleari, Alberto Fernandez-Jaen, Anna Cariboni
Summary: Intellectual disability (ID) is a neurological disorder caused by early neurodevelopmental defects. The genetic and molecular mechanisms underlying ID are complex, and alterations in genes associated with axon guidance and neural circuit formation are thought to be involved. In this study, a novel loss-of-function variant in the SEMA3E gene was identified in a patient with severe ID and cognitive regression. The variant was found to impair protein secretion and binding to neuronal cells and tissues. The expression of SEMA3E during human brain development was also revealed.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Biology
Rosario Francisco-Velilla, Azman Embarc-Buh, Francisco del Cano-Ochoa, Salvador Abellan, Marcal Vilar, Sara Alvarez, Alberto Fernandez-Jaen, Sukhleen Kour, Deepa S. Rajan, Udai Bhan Pandey, Santiago Ramon-Maiques, Encarnacion Martinez-Salas
Summary: Dysfunction of RNA-binding protein Gemin5 is associated with neurological disorders. This study identified functional and structural deficiencies associated with compound heterozygosity variants within the Gemin5 gene in patients with neurodevelopmental disorders. These variants disrupt interactions with protein networks and ribosomes, affecting translation and RNA-driven pathways.
LIFE SCIENCE ALLIANCE
(2022)
Article
Clinical Neurology
Daniel Martin Fernandez-Mayoralas, Ana L. Fernandez-Perrone, Sonia Lopez-Arribas, Antonio Pelaz-Antolin, Alberto Fernandez-Jaen
REVISTA DE NEUROLOGIA
(2015)
Article
Neurosciences
Jose A. Alda, Cesar Soutullo, Josep A. Ramos-Quiroga, Javier Quintero, Amaia Hervas, Isabel Hernandez-Otero, Anna Sans-Fito, Esther Cardo-Jalon, Alberto Fernandez-Jaen, Maximino Fernandez-Perez, Ma Ines Hidalgo-Vicario, Lefa S. Eddy-Ives, Javier Sanchez
ACTAS ESPANOLAS DE PSIQUIATRIA
(2014)
Article
Radiology, Nuclear Medicine & Medical Imaging
D. Martin Fernandez-Mayoralas, A. Fernandez-Jaen, J. J. Gomez Herrera, M. Jimenez de la Pena
Article
Clinical Neurology
Alberto Fernandez-Jaen, Juan C. Cigudosa, Daniel Martin Fernandez-Mayoralas, Javier Suela, Ana L. Fernandez-Perrone, Beatriz Calleja-Perez, Sara Lopez-Martin
REVISTA DE NEUROLOGIA
(2014)
Article
Clinical Neurology
Karlijn Bouman, Jeroen L. M. van Doorn, Jan T. Groothuis, Peter J. Wijkstra, Baziel G. M. van Engelen, Corrie E. Erasmus, Jonne Doorduin, Nicol C. Voermans
Summary: The majority of LAMA2-MD and all SELENON-RM patients had respiratory impairment. SELENON-RM patients showed lower respiratory function which was progressive, more prevalent mechanical ventilation, and more severe diaphragm atrophy and dysfunction than LAMA2-MD patients. Spirometry (FVC%, dVC) and respiratory muscle strength tests (SNIP) are useful in clinical care and as outcome measure in clinical trials.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
(2024)
Article
Clinical Neurology
Oliviero Bruni, Maria Breda, Emanuela Malorgio, Paolo Brambilla, Flavia Ceschin, Andrea Di Pilla, Maurizio Elia, Raffaele Ferri
Summary: This study aimed to describe the use of melatonin by Italian pediatricians in healthy children with chronic insomnia. The results showed that a high percentage of pediatricians prescribed melatonin, especially in children aged 1-2 years. The most common dosage was 1 mg/day and it was usually recommended to be taken 30 minutes before bedtime. Melatonin was often combined with sleep hygiene and was found to be effective in reducing difficulties falling asleep.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
(2024)
Article
Clinical Neurology
Lucie Sedlackova, Katalin Sterbova, Marketa Vlckova, Pavel Seeman, Jana Zarubova, Petr Marusic, Pavel Krsek, Hana Krijtova, Alena Musilova, Petra Lassuthova
Summary: In this study, whole exome sequencing (WES) was performed to identify causal variants for developmental and epileptic encephalopathies (DEEs) in patients whose genetic diagnosis was not determined by gene panel testing. The results showed that WES can successfully identify disease-causing variants, even after inconclusive gene panel testing. Detailed clinical evaluations and phenotype-genotype correlation studies were conducted to better understand the rare subtypes of DEEs.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
(2024)