Review
Clinical Neurology
Andrea E. Cavanna, Giulia Purpura, Anna Riva, Renata Nacinovich
Summary: This review aimed to assess the relationship between tics and stereotypies when these conditions present in co-morbidity. The study found that tics and stereotypies can often develop together, which has practical implications for treatment approaches. Further research is needed on the assessment and management of both conditions, particularly in special populations.
NEUROLOGICAL SCIENCES
(2023)
Article
Clinical Neurology
Cristiano Termine, Enzo Grossi, Valentina Anelli, Ledina Derhemi, Andrea E. Cavanna
Summary: The study found a relatively high rate of co-morbid tics in young patients with ASD and stereotypies. Possible tics included eye blinking, shoulder shrugging, neck bending, staring, and throat clearing. Comprehensive clinical assessment focusing on the diagnostic re-evaluation of heterogeneous motor manifestations is important.
NEUROLOGICAL SCIENCES
(2021)
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
Cell Biology
Manisha Siwach, Lokesh Kumar, Saravanan Palani, Samada Muraleedharan, Gael Panis, Coralie Fumeaux, Binny M. Mony, Soumyajit Sanyal, Patrick H. Viollier, Sunish Kumar Radhakrishnan
Summary: The regulator MadA controls transcription of flagellar and cell-division genes in Caulobacter crescentus by promoting FliX activation through binding with FlhA. MadA safeguards the divisome stoichiometry to license cell division.
DEVELOPMENTAL CELL
(2021)
Article
Psychology, Developmental
Siddharth Srivastava, Bennett Clark, Colleen Landy-Schmitt, Elizabeth A. Offermann, Antonie D. Kline, Samuel T. Wilkinson, Marco A. Grados
Summary: This study evaluated children with Cornelia de Lange syndrome and found that a majority of them exhibited repetitive and self-injurious behaviors, which had a negative impact on their adaptive functioning.
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
(2021)
Article
Multidisciplinary Sciences
Yosuke Eriguchi, Xiaoxue Gu, Naoto Aoki, Maiko Nonaka, Ryunosuke Goto, Hitoshi Kuwabara, Yukiko Kano, Kiyoto Kasai
Summary: This study aimed to elucidate the clinical course of neck tics in patients with Tourette's syndrome. The results showed that there were no significant changes in the intensity and frequency of neck tics over time. At the individual level, angular velocity and YGTSS scores had substantial consistency, while angular acceleration and tic counts had moderate consistency between baseline and follow-up assessments.
Article
Medicine, General & Internal
Ruth H. Jack, Rebecca M. Joseph, Carol A. C. Coupland, Charlotte L. Hall, Chris Hollis
Summary: Since the COVID-19 pandemic, there has been an increase in sudden and new onset tics, particularly affecting teenage girls. This population-based study found that the incidence of tics in children and young people has increased during the pandemic, with the highest increase seen in teenage girls.
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)
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)
Review
Clinical Neurology
Jatinder Singh, Evamaria Lanzarini, Nardo Nardocci, Paramala Santosh
Summary: This systematic review identified and thematically appraised clinical evidence of movement disorders in patients with Rett syndrome (RTT). Six themes emerged from the thematic analysis, including clinical features of abnormal movement behaviors, mutational profile and its impact on movement disorders, symptoms and stressors that impact on movement disorders, possible underlying neurobiological mechanisms, quality of life and movement disorders, and treatment of movement disorders.
PSYCHIATRY AND CLINICAL NEUROSCIENCES
(2021)
Article
Clinical Neurology
Jose Fidel Baizabal-Carvallo, Marlene Alonso-Juarez, Joseph Jankovic
Summary: This study found that 17% of patients with TS exhibit SIB, which is associated with complex motor tics, OCD, and severity of tics.
JOURNAL OF NEUROLOGY
(2022)
Article
Acoustics
Wael Abdallah, Emmanuel Spaggiari, Sophie Brisset, Rodolphe Dard, Tania Attie Bitach, Jean Philippe Bault, Thibault Quibel
Summary: Primrose syndrome is a rare congenital malformation that is often diagnosed in adulthood. This study presents three cases with characteristic sonographic features and identifies a missense mutation in the ZBTB20 gene that can confirm the prenatal diagnosis of Primrose syndrome.
JOURNAL OF ULTRASOUND IN MEDICINE
(2023)
Article
Behavioral Sciences
Robin L. Shafer, Mark H. Lewis, Karl M. Newell, James W. Bodfish
Summary: Stereotyped behavior is common in both ASD and TD, but differences in sensorimotor processing may restrict complex motor behavior in individuals with ASD, and stereotypy is associated with low motor complexity.
BEHAVIOURAL BRAIN RESEARCH
(2021)
Article
Clinical Neurology
Christelle Nilles, Gabriel Amorelli, Tamara M. Pringsheim, Davide Martino
Summary: Tics, stereotypies, akathisia, and restless legs are different types of abnormal movements that can be discrete, unwanted, and potentially disabling. The ability to control or inhibit these motor patterns varies among individuals. It is important for physicians to distinguish between these involuntary motor behaviors due to differences in causes and management approaches. This review summarizes the current knowledge on the phenomenology, diagnosis, and treatment of tics, stereotypies, akathisia, and restless leg syndrome.
SEMINARS IN NEUROLOGY
(2023)
Article
Clinical Neurology
Rosa Angela Fabio, Samantha Giannatiempo, Tindara Capri, Martina Semino
Summary: The study found that structured and specific motor training can improve upper limb motor skills in patients with Rett syndrome, including attention, reaching skills, and a decrease in stereotypies.
MOVEMENT DISORDERS CLINICAL PRACTICE
(2022)
Editorial Material
Clinical Neurology
Merida Teran Jimenez, Philippe Salles Gandara, Alberto J. Espay
Article
Neurosciences
Travis R. Larsh, David A. Huddleston, Paul S. Horn, Steve W. Wu, Kim M. Cecil, Hannah S. Jackson, Richard A. E. Edden, Stewart H. Mostofsky, Donald L. Gilbert
Summary: Tourette syndrome (TS) is a childhood-onset disorder characterized by tics preceded by premonitory sensory urges. This study found that the intensity of the urges strongly correlated with tic severity. More severe urges were associated with lower cortical excitability (CE) and weaker cortical inhibition in both right and left M1. Interestingly, in the right M1, lower CE and weaker inhibition correlated with less severe tics. The study suggests that in young children with TS, the reduction of CE and inhibition in the right M1, modulated by the supplementary motor area (SMA) and gamma-amino butyric acid (GABA), may serve as compensatory mechanisms to diminish tics in response to premonitory urges.
Article
Clinical Neurology
Davide Martino, Tammy Hedderly, Tara Murphy, Kirsten R. Mueller-Vahl, Russell C. Dale, Donald L. Gilbert, Renata Rizzo, Andreas Hartmann, Peter Nagy, Mathieu Anheim, Tamsin Owen, Osman Malik, Morvwen Duncan, Isobel Heyman, Holan Liang, Andrew McWilliams, Shauna O'Dwyer, Carolin Fremer, Natalia Szejko, Velda X. Han, Kasia Kozlowska, Tamara M. Pringsheim
Summary: There has been a significant increase in adolescents and young adults seeking urgent help for functional tic-like behaviors (FTLBs) between 2019 and 2022. An international collaborative group collected retrospective data to better understand this spectrum and its clinical differences from primary tic disorders. The study findings suggest that social media exposure may be a relevant contributing factor to FTLBs.
EUROPEAN JOURNAL OF NEUROLOGY
(2023)
Article
Clinical Neurology
Luca Marsili, Kevin R. Duque, Nathan Gregor, Elhusseini Abdelghany, Jesus Abanto, Andrew P. Duker, Matthew C. Hagen, Alberto J. Espay, Matteo Bologna
Summary: This study found no significant differences in the features of bradykinesia between patients with synucleinopathies and tauopathies.
MOVEMENT DISORDERS
(2023)
Article
Clinical Neurology
Alonso Zea Vera, Adrienne Bruce, Travis R. Larsh, Zachary Jordan, Norbert Bruggemann, Ana Westenberger, Alberto J. Espay, Donald L. Gilbert, Steve W. Wu
Summary: POLR3A-related disorders exhibit significant phenotypic pleomorphism, including a range of movement disorders such as parkinsonism, dystonia, ataxia, and spasticity. Vertical gaze dysfunction and T2-weighted/FLAIR hyperintensity of the superior cerebellar peduncles and midbrain may be useful signs suggestive of this condition.
MOVEMENT DISORDERS CLINICAL PRACTICE
(2023)
Article
Clinical Neurology
Mitchell A. Batschelett, David A. Huddleston, Deana Crocetti, Paul S. Horn, Stewart H. Mostofsky, Donald L. Gilbert
Summary: This study compared transcranial magnetic stimulation (TMS)-derived measures of primary motor cortex (M1) physiology between children with and without Tourette syndrome, and found that reduced M1 short-interval cortical inhibition (SICI) is associated with increased tic severity, but not urge severity.
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
(2023)
Article
Clinical Neurology
Travis R. Larsh, Steve W. W. Wu, David A. Huddleston, Sean White, Tara D. Lipps, Donald L. Gilbert
Summary: This study aimed to compare tic- and non-tic-related impairment experienced by adolescent boys and girls with Tourette syndrome, and its association with age. Data from electronic health records and questionnaires were analyzed for 132 unique adolescent encounters. The findings suggest that tic- and non-tic-related impairment may improve with age in boys but not in girls, and that obsessive-compulsive symptoms are associated with non-tic-related impairment in girls. Further longitudinal studies are needed to confirm these findings.
JOURNAL OF CHILD NEUROLOGY
(2023)
Article
Clinical Neurology
Matteo Bologna, Alberto J. Espay, Alfonso Fasano, Giulia Paparella, Mark Hallett, Alfredo Berardelli
MOVEMENT DISORDERS
(2023)
Article
Clinical Neurology
Travis R. Larsh, Steve W. Wu, David A. Huddleston, Tara D. Lipps, Donald L. Gilbert
Summary: This study aimed to compare sex differences in tic severity among adolescents with Tourette syndrome (TS) before and during the COVID-19 pandemic. The study found that during the pandemic, boys had less severe tics compared to girls, while there were no significant differences in tic severity between boys and girls before the pandemic.
Editorial Material
Clinical Neurology
Alberto J. Espay, Kevin McFarthing
Summary: The process of protein aggregation involves the transformation of soluble peptides into insoluble cross-beta amyloids. In Parkinson's disease, soluble monomeric a-synuclein transforms into the amyloid state known as Lewy pathology. Most disease-modifying projects in the therapeutic pipeline for Parkinson's disease aim to reduce the insoluble a-synuclein fraction, while none aim to increase soluble a-synuclein levels. We propose rebalancing the therapeutic pipeline to include treatments that restore soluble a-synuclein within a normal range.
PARKINSONISM & RELATED DISORDERS
(2023)
Article
Clinical Neurology
Alexander C. Doherty, David A. Huddleston, Paul S. Horn, Nancy Ratner, Brittany N. Simpson, Elizabeth K. Schorry, Lindsey Aschbacher-Smith, Carlos E. Prada, Donald L. Gilbert
Summary: Neurofibromatosis type 1 (NF1) is a genetic disorder with motor and cognitive symptoms that severely impact quality of life. This study used transcranial magnetic stimulation (TMS) to assess motor cortex physiology in children with NF1, ADHD, and typically developing (TD) children. It was found that children with NF1 had impaired motor function and altered motor cortex physiology compared to TD and ADHD children.
PEDIATRIC NEUROLOGY
(2023)
Article
Clinical Neurology
Ashwani Jha, Alberto J. Espay, Andrew J. Lees
MOVEMENT DISORDERS CLINICAL PRACTICE
(2023)
Article
Clinical Neurology
Alberto J. Espay, Robert A. Hauser, Rohit Dhall, Sandeep Thakkar, Leslie Cloud, Leonid Zeitlin, Ghazal Banisadr, Stanley Fisher, Hester Visser
Summary: In this open-label extension of a phase 3 study, IPX203 demonstrated a favorable safety profile and sustained efficacy similar to the double-blind study. Improvements in efficacy were maintained throughout the trial, and adverse events were mostly mild or moderate and occurred within the first 90 days of treatment.
MOVEMENT DISORDERS
(2023)
Article
Clinical Neurology
Vindhya Koneru, Alberto J. Espay, Allan J. Cole, Daniel Weintraub, Kathleen Crist, Maria B. Pascual, William G. Ondo
MOVEMENT DISORDERS
(2023)
