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JOURNAL ARTICLE
Elisabetta Sarasso, Daniele Emedoli, Andrea Gardoni, Lucia Zenere, Elisa Canu, Silvia Basaia, Alberto Doretti, Nicola Ticozzi, Sandro Iannaccone, Stefano Amadio, Ubaldo Del Carro, Massimo Filippi, Federica Agosta
INTRODUCTION: Evaluating the neural correlates of sensorimotor control deficits in cervical dystonia (CD) is fundamental to plan the best treatment. This study aims to assess kinematic and resting-state functional connectivity (RS-FC) characteristics in CD patients relative to healthy controls. METHODS: Seventeen CD patients and 14 age-/sex-matched healthy controls were recruited. Electromagnetic sensors were used to evaluate dystonic pattern, mean/maximal cervical movement amplitude and joint position error with eyes open and closed, and movement quality during target reaching with the head...
March 2024: Parkinsonism & related Disorders
#22
REVIEW
Giovanni Defazio, Antonella Muroni, Paolo Taurisano, Angelo Fabio Gigante, Michela Fanzecco, Davide Martino
BACKGROUND: Cognitive dysfunction has been reported in idiopathic adult-onset dystonia (IAOD), but whether this is a primary or secondary component of the disorder remains uncertain. OBJECTIVE: Here, we aimed to analyze the key domains of abnormal cognitive performance in IAOD and whether this is associated with motor or mood changes. METHODS: Article selection for our critical review was guided by PRISMA guidelines (mesh terms "dystonia" and "cognitive," publication period: 2000-2022)...
February 5, 2024: Movement Disorders Clinical Practice
#23
JOURNAL ARTICLE
Shimelis Girma Kassaye, Willem De Hertogh, David Crosiers, Esayas Kebede Gudina, Joke De Pauw
BACKGROUND: Cervical dystonia is a movement disorder typically characterized by a patterned and twisting movement of sustained or intermittent muscle contractions. Recently, new clinical trials are emerging, highlighting the potential benefit of physiotherapy (PT) on disease outcomes. Thus, the objective of this review is to update the effectiveness of PT on cervical dystonia disease outcomes and subsequently perform a meta-analysis. METHODS: Interventional studies published in English with adult patients with isolated cervical dystonia following a physiotherapy program were included...
February 1, 2024: BMC Neurology
#24
Eric Chun-Pu Chu, Lucina Ng
Cervical radiculopathy often presents with neck pain, sensory disturbances, or motor weakness. This case report describes an atypical presentation of cervical radiculopathy manifesting as dystonic tremor and brachialgia, which has been documented only once previously. A 46-year-old, right-handed, male delivery worker presented with severe neck pain that gradually evolved into a dystonic tremor and sharp aching pain across his right shoulder. Despite medical intervention, his symptoms persisted, leading him to seek chiropractic care...
January 2024: Curēus
#25
RANDOMIZED CONTROLLED TRIAL
Cynthia L Comella, Joseph Jankovic, Robert A Hauser, Atul T Patel, Marta D Banach, Edvard Ehler, Domenico Vitarella, Roman G Rubio, Todd M Gross
BACKGROUND AND OBJECTIVES: ASPEN-1 was a phase 3, randomized, double-blind, placebo-controlled study to evaluate the efficacy, duration of response, and safety of 2 doses of DaxibotulinumtoxinA for Injection (DAXI), a novel botulinum toxin type A formulation in participants with cervical dystonia (CD). METHODS: Adults (aged 18-80 years) with moderate-to-severe CD (Toronto Western Spasmodic Torticollis Rating Scale [TWSTRS] total score ≥20) were enrolled at 60 sites across 9 countries in Europe and North America...
February 27, 2024: Neurology
#26
Ya-Ting Zhang, Jin-Jing Zhang, Bi-Xiang Zha, Yin-Qiu Fan, Yuan-Bo Xu, Jun Yang, Qing-Ping Zhang
BACKGROUND: Cervical dystonia (CD) is a type of muscle tone disorder that usually occurs in the neck muscles. Due to the intermittent or continuous involuntary contraction of the neck muscles, the head and neck are twisted and skewed and some postural abnormalities occur. Long-term abnormal posture or pain can cause negative emotions in patients, which can affect their quality of life. CASE SUMMARY: This case report included a 37-year-old woman who was diagnosed with CD associated with anxiety and depression; the accompanying symptoms were head and neck tilt of approximately 90° to the right and mental abnormality...
January 6, 2024: World Journal of Clinical Cases
#27
Edoardo Monfrini, Laura Avanzino, Giovanni Palermo, Giulia Bonato, Gloria Brescia, Roberto Ceravolo, Giovanna Cantarella, Paola Mandich, Holger Prokisch, Karin Storm Van's Gravesande, Giulia Straccia, Antonio Elia, Chiara Reale, Celeste Panteghini, Giovanna Zorzi, Roberto Eleopra, Roberto Erro, Miryam Carecchio, Barbara Garavaglia, Michael Zech, Luigi Romito, Alessio Di Fonzo
BACKGROUND: VPS16 pathogenic variants have been recently associated with inherited dystonia. Most patients affected by dominant VPS16-related disease display early-onset isolated dystonia with prominent oromandibular, bulbar, cervical, and upper limb involvement, followed by slowly progressive generalization. CASES: We describe six newly reported dystonic patients carrying VPS16 mutations displaying unusual phenotypic features in addition to dystonia, such as myoclonus, choreoathetosis, pharyngospasm and freezing of gait...
January 2024: Movement Disorders Clinical Practice
#28
REVIEW
Feline Hamami, Tobias Bäumer
BACKGROUND: Dystonia is a hyperkinetic movement disorder that results in twisting, cramps and tremors due to sustained or intermittent muscle contractions. Cervical dystonia is the most common form of dystonia, in which the head, neck and/or shoulder areas are affected. In addition to these motor symptoms, pain and psychiatric symptoms are frequent in (cervical) dystonia. OBJECTIVE: Description of the incidence and evaluation of pain in cervical dystonia, summary and discussion of treatment options and effects...
January 24, 2024: Der Schmerz
#29
JOURNAL ARTICLE
Helen Gowling, Fiadhnait O'Keeffe, Fiona J R Eccles
Cervical dystonia (CD) is a movement disorder which causes sustained muscle contractions in the neck leading to abnormal postures and repetitive movements. As it is a highly visible condition, people with CD can experience stigma, which may lead to unhelpful coping strategies and increased psychological distress. This study investigated whether adaptive and maladaptive coping strategies mediate the relationship between stigma and psychological outcomes in people with CD. A total of 114 adults with CD completed measures of stigma, coping, health-related quality of life (HRQOL), psychological distress (depression, anxiety, stress), and psychological wellbeing at one time point...
January 22, 2024: Psychology, Health & Medicine
#30
JOURNAL ARTICLE
Dirk Dressler, Bruno Kopp, Lizhen Pan, Fereshte Adib Saberi
Idiopathic cervical dystonia (ICD) is by far the largest subgroup of dystonia. Still, its natural course is largely unknown. We studied the natural course of 100 ICD patients from our botulinum toxin clinics (age at ICD onset 45.8 ± 13.5 years, female/male ratio 2.0) over a period of 17.5 ± 11.5 years with follow-ups during botulinum toxin therapy and with semi-structured interviews. Two courses of ICD could be distinguished by symptom development of more or less than 6 months...
January 20, 2024: Journal of Neural Transmission
#31
JOURNAL ARTICLE
Maraike A Coenen, Jacoba M Spikman, Marenka Smit, Jesper Klooster, Marina A J Tijssen, Marleen J J Gerritsen
OBJECTIVE: Cervical dystonia (CD) is a movement disorder characterized by involuntary muscle contractions causing sustained twisting movements and abnormal postures of the neck and head. Assumed affected neuronal regions are the cortico-striatal-thalamo-cortical circuits, which are also involved in cognitive functioning. Indeed, impairments in different cognitive domains have been found in CD patients. However, to date studies have only investigated a limited range of cognitive functions within the same sample...
January 15, 2024: Journal of the International Neuropsychological Society: JINS
#32
Shinichi S Matsumoto, Hidetaka Koizumi, Hideki Shimazu, Satoshi Goto
OBJECTIVES: Imbalanced activities between dopamine D1 and D2 signals in striatal striosome-matrix system have been proposed as a cause of dystonia symptoms. The aim of this study was to assess the therapeutic effects of dual dopaminergic modulation (DDM) with l-DOPA and chlorpromazine (CPZ) in patients with idiopathic cervical dystonia (CD). METHODS: We enrolled 21 patients with CD who responded poorly to botulinum toxin treatment. The severities of CD motor symptoms and CD-associated pain were determined using the Toronto Western Spasmodic Torticollis Rating Scale and the visual analog scale, respectively...
April 2024: Neurology. Clinical Practice
#33
JOURNAL ARTICLE
Deniz Boz, Gamze Kilic-Berkmen, Joel S Perlmutter, Scott A Norris, Laura J Wright, Christine Klein, Tobias Bäumer, Sebastian Löns, Jeanne S Feuerstein, Abhimanyu Mahajan, Aparna Wagle-Shukla, Irene Malaty, Mark S LeDoux, William Ondo, Alexander Pantelyat, Samuel Frank, Rachel Saunders-Pullman, H A Jinnah
BACKGROUND: There are several widely used clinical rating scales for documenting the severity and distribution of various types of dystonia. OBJECTIVES: The goal of this study was to evaluate the performance of the most commonly used scales in a large group of adults with the most common types of isolated dystonia. METHODS: Global Dystonia Rating Scale (GDRS) and the Burke-Fahn-Marsden Dystonia Rating Scale (BFM) scores were obtained for 3067 participants...
December 2023: Movement Disorders Clinical Practice
#34
JOURNAL ARTICLE
Maria Paola Tramonti Fantozzi, Roberta Benedetti, Alessandra Crecchi, Lucia Briscese, Paolo Andre, Pieranna Arrighi, Luca Bonfiglio, Maria Chiara Carboncini, Luca Bruschini, Paolo Bongioanni, Ugo Faraguna, Diego Manzoni
INTRODUCTION: The normal hemispheric balance can be altered by the asymmetric sensorimotor signal elicited by Cervical Dystonia (CD), leading to motor and cognitive deficits. METHODS: Directional errors, peak velocities, movement and reaction times of pointing towards out-of-reach targets in the horizontal plane were analysed in 18 CD patients and in 11 aged-matched healthy controls. RESULTS: CD patients displayed a larger scatter of individual trials around the average pointing direction (variable error) than normal subjects, whatever the arm used, and the target pointed...
2023: Frontiers in Systems Neuroscience
#35
JOURNAL ARTICLE
Xuan Zhou, Zhen-Fei Li, Xuan-Zhu Guo, Qiao Wei, Ya-Nan Niu, Meng Li, Jia-Ning Xia, Li-Ping Chen
BACKGROUND: The first-line treatment for cervical dystonia (CD) consists of repeated intramuscular injections of botulinum toxin (BoNT). However, the efficacy in some patients may be unsatisfactory and they may discontinue treatment. OBJECTIVE: To examine the factors associated with the maximum rate of remission in patients with CD after initial botulinum neurotoxin type A (or botulinum toxin type A abbreviated as BTX-A or BoNT-A) treatment. METHODS: Patients with CD who received BoNT-A injections were evaluated using the Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS) and the Tsui scale, with follow-up endpoints lasting until the start of the second injection...
November 23, 2023: Technology and Health Care: Official Journal of the European Society for Engineering and Medicine
#36
RANDOMIZED CONTROLLED TRIAL
Michael Hull, Natalya Danchenko, Vamshi Ruthwik Anupindi, Mitchell DeKoven, Jing He, Jonathan Bouchard
BACKGROUND: Spasticity and cervical dystonia (CD) are movement disorders with considerable direct and indirect health care cost implications. Although several studies have discussed their clinical impact, few have calculated the economic burden of these disorders. OBJECTIVE: To assess the all-cause health care resource utilization (HCRU) and costs in adults and children with spasticity or CD. METHODS: This retrospective, observational cohort-based study was conducted using administrative insurance claims from the IQVIA PharMetrics Plus database from October 1, 2015, to December 31, 2019...
January 2024: Journal of Managed Care & Specialty Pharmacy
#37
Md Fahim Anjum, Clay Smyth, Derk-Jan Dijk, Philip Starr, Timothy Denison, Simon Little
Background Sleep disturbance is a prevalent and highly disabling comorbidity in individuals with Parkinson's disease (PD) that leads to worsening of daytime symptoms, reduced quality of life and accelerated disease progression. Objectives We aimed to record naturalistic overnight cortico-basal neural activity in people with PD, in order to determine the neurophysiology of spontaneous awakenings and slow wave suppression in non-rapid eye movement (NREM) sleep, towards the development of novel sleep-targeted neurostimulation therapies...
November 7, 2023: Research Square
#38
JOURNAL ARTICLE
Abhimanyu Mahajan, David A Gonzalez, Glenn T Stebbins, Cynthia Comella
BACKGROUND: Sensory tricks (STs) are voluntary maneuvers that dampen the abnormal movement in cervical dystonia (CD). OBJECTIVES: To investigate the effect of ST on CD severity and treatment. METHODS: Data on 1039 individuals with a modified Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS) score were extracted from the CD Patient Registry for Observation of OnabotulinumtoxinA (onabotA) Efficacy study. Univariate and multivariate models evaluated the direct and indirect impact of ST on CD severity and treatment, while controlling for confounds...
November 2023: Movement Disorders Clinical Practice
#39
JOURNAL ARTICLE
Sebastian Loens, Tobias Boppel, Tobias Bäumer
BACKGROUND: Botulinum neurotoxin A (BoNT) is the first line treatment for cervical dystonia (CD) and treatment outcome significantly depends on the correct identification of the muscles involved. PHENOMENOLOGY SHOWN: In a case with insufficient response to BoNT treatment further work up with magnetic resonance imaging (MRI) of the neck revealed a hypertrophic spinalis cervicis muscle, that is not commonly involved in CD. EDUCATIONAL VALUE: This highlights the use of MRI for muscle selection in treatment refractory CD cases...
2023: Tremor and Other Hyperkinetic Movements
#40
JOURNAL ARTICLE
Rauan Kaiyrzhanov, Aboulfazl Rad, Sheng-Jia Lin, Aida Bertoli-Avella, Wouter W Kallemeijn, Annie Godwin, Maha S Zaki, Kevin Huang, Tracy Lau, Cassidy Petree, Stephanie Efthymiou, Ehsan Ghayoor Karimiani, Maja Hempel, Elizabeth A Normand, Sabine Rudnik-Schöneborn, Ulrich A Schatz, Marc P Baggelaar, Muhammad Ilyas, Tipu Sultan, Javeria Raza Alvi, Manizha Ganieva, Ben Fowler, Ruxandra Aanicai, Gulsen Akay Tayfun, Abdulaziz Al Saman, Abdulrahman Alswaid, Nafise Amiri, Nilufar Asilova, Vorasuk Shotelersuk, Patra Yeetong, Matloob Azam, Meisam Babaei, Gholamreza Bahrami Monajemi, Pouria Mohammadi, Saeed Samie, Selina Husna Banu, Jorge Pinto Basto, Fanny Kortüm, Mislen Bauer, Peter Bauer, Christian Beetz, Masoud Garshasbi, Awatif Hameed Issa, Wafaa Eyaid, Hind Ahmed, Narges Hashemi, Kazem Hassanpour, Isabella Herman, Sherozjon Ibrohimov, Ban A Abdul-Majeed, Maria Imdad, Maksudjon Isrofilov, Qassem Kaiyal, Suliman Khan, Brian Kirmse, Janet Koster, Charles Marques Lourenço, Tadahiro Mitani, Oana Moldovan, David Murphy, Maryam Najafi, Davut Pehlivan, Maria Eugenia Rocha, Vincenzo Salpietro, Miriam Schmidts, Adel Shalata, Mohammad Mahroum, Jawabreh Kassem Talbeya, Robert W Taylor, Dayana Vazquez, Annalisa Vetro, Hans R Waterham, Mashaya Zaman, Tina A Schrader, Wendy K Chung, Renzo Guerrini, James R Lupski, Joseph Gleeson, Mohnish Suri, Yalda Jamshidi, Kailash P Bhatia, Barbara Vona, Michael Schrader, Mariasavina Severino, Matthew Guille, Edward W Tate, Gaurav K Varshney, Henry Houlden, Reza Maroofian
The acyl-CoA-binding domain-containing protein 6 (ACBD6) is ubiquitously expressed, plays a role in the acylation of lipids and proteins, and regulates the N-myristoylation of proteins via N-myristoyltransferase enzymes (NMTs). However, its precise function in cells is still unclear, as is the consequence of ACBD6 defects on human pathophysiology. Utilizing exome sequencing and extensive international data sharing efforts, we identified 45 affected individuals from 28 unrelated families (consanguinity 93%) with bi-allelic pathogenic, predominantly loss-of-function (18/20) variants in ACBD6...
November 10, 2023: Brain
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