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Maria Angela Santoro, Isolde English, Idil Sezer, Mickael Amagat, Frank Ly, Edouard Chaneac, Patricia Cailliez, Hugo Bottemanne
BACKGROUND: We report the case of a patient presenting with orofacial tardive dyskinesia (TD), following administration of a first-generation antipsychotic (Loxapine). INTERVENTION: Four weeks of repeated sessions of mindfulness-based cognitive therapy (MBCT) and mindfulness-based stress reduction (MBSR) protocols were administered, with TD hetero-quantified before and during each session via the Abnormal Involuntary Movement Scale (AIMS). RESULTS: The dyskinesia ameliorated quantitatively and qualitatively (1) during each session, and (2) at resting conditions in the long term...
August 30, 2021: Neurology International
#22
JOURNAL ARTICLE
Mateusz Biela, Malgorzata Rydzanicz, Krystyna Szymanska, Karolina Pieniawska-Smiech, Aleksandra Lewandowicz-Uszynska, Joanna Chruszcz, Lucyna Benben, Malgorzata Kuzior-Plawiak, Pawel Szyld, Aleksandra Jakubiak, Leszek Szenborn, Rafal Ploski, Robert Smigiel
BACKGROUND: Variants in ATP1A3 cause well-known phenotypes-alternating hemiplegia of childhood (AHC), rapid-onset dystonia-parkinsonism (RDP), cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss (CAPOS), and severe early infantile epileptic encephalopathy. Recently, there has been growing evidence for genotype-phenotype correlations in the ATP1A3 variants, and a separate phenotype associated with variants in residue 756-two acronyms are proposed for the moment-FIPWE (fever-induced paroxysmal weakness and encephalopathy) and RECA (relapsing encephalopathy with cerebellar ataxia)...
August 2, 2021: Molecular Genetics & Genomic Medicine
#23
JOURNAL ARTICLE
Laura Andreoli, Morteza Abbaszadeh, Xiao Cao, Maria Angela Cenci
L-DOPA-induced dyskinesia (LID) is a significant complication of dopamine replacement therapy in Parkinson's disease (PD), and the specific role of different dopamine receptors in this disorder is poorly understood. We set out to compare patterns of dyskinetic behaviours induced by the systemic administration of L-DOPA and D1 or D2 receptor (D1R, D2R) agonists in mice with unilateral 6-hydroxydopamine lesions. Mice were divided in four groups to receive increasing doses of L-DOPA, a D1R agonist (SKF38393), a D2/3 agonist (quinpirole), or a selective D2R agonist (sumanirole)...
June 18, 2021: Neurobiology of Disease
#24
JOURNAL ARTICLE
Takahiro Iizuka, Naomi Kanazawa, Atsuko Yanagida
Anti-NMDA receptor (NMDAR) encephalitis is an autoimmune disease caused by autoantibodies against the extracellular conformational epitope of the NR1 subunit of the NMDAR (GluN1 antibodies). A series of autoantibodies directed against neuronal surface (NS) or synaptic proteins play an important role in the pathophysiological mechanisms of post-herpes simplex encephalitis (post-HSE), overlapping autoimmune encephalitis and demyelinating syndrome, epileptic seizures, psychosis, involuntary movements (orofacial and limb dyskinesias, catatonia, dystonia, chorea, myoclonus, psychogenic nonepileptic seizures, and faciobrachial dystonic seizures), postpartum psychosis, stiff-person spectrum disorder (including progressive encephalomyelitis with rigidity and myoclonus [PERM]), cerebellar ataxia, and sleep behavior disorders...
May 2021: Brain and Nerve, Shinkei Kenkyū No Shinpo
#25
JOURNAL ARTICLE
Carlos Estevez-Fraga, Francesca Magrinelli, Davina Hensman Moss, Eoin Mulroy, Giulia Di Lazzaro, Anna Latorre, Melissa Mackenzie, Henry Houlden, Sarah J Tabrizi, Kailash P Bhatia
OBJECTIVE: Hexanucleotide repeat expansions (HREs) in C9orf72 are a major cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). We aimed to determine the frequency and phenomenology of movement disorders (MD) in carriers of HRE in C9orf72 through a retrospective review of patients' medical records. METHODS: We retrospectively reviewed the clinical records of patients carrying a C9orf72 HRE in the pathogenic range and compared the characteristics of patients with and without MD...
April 2021: Neurology. Genetics
#26
Aadithya B Urs, Jeyaseelan Augustine, Azhar Ahmed Khan
Chorea-acanthocytosis (ChAc) is an autosomal recessive, progressive neurological disorder due to mutation in VPS13A gene causing defects in sorting of protein making the cell membrane unstable, leading to star-shaped erythrocytes. This neurological disorder includes features such as elevated creatinine kinase, atrophy of basal ganglia, and oral manifestations such as frequent cheek and tongue biting. It is a rare neurological condition with an estimate of <1000 cases worldwide. A case of 47-year-old male patient with a history of seizures and neurological problems presenting with oral ulceration has been discussed...
January 2021: Contemporary Clinical Dentistry
#27
JOURNAL ARTICLE
Alyssa Pagliaro, Brianna Mattio, Nicholas Paulson, Christian Fromm, Jennifer Vidal
In this report, we discuss the case of a 9-year-old male with Attention Deficit Hyperactivity Disorder (ADHD) on long-term methylphenidate and guanfacine who experienced acute orofacial dystonia that resolved immediately with the administration of benztropine. Current literature describes various cases of methylphenidate-induced dystonia, but ours appears to be the first reported instance of spontaneous dystonia without a recent change in dose or medication change. This may suggest the possibility of methylphenidate-induced dystonia spontaneously occurring several years after initiation...
April 5, 2021: Journal of Pharmacy Practice
#28
Anand Deep Shukla, G Srikanth, A Chitra, Anupam Singh, Sunil Nayak
Mandibular parasymphysis fracture is very commonly observed especially in old age when there is resorptions of the alveolar ridges. In cervical dystonia, there is centrally mediated disease in which there is uncontrolled and spasmodic contraction of the facial and the masticatory muscles. Due to the application of this sudden and uncontrolled force, there is a tendency of the bone to unfavourably remodel and weaken. The case presented here is of a geriatric patient who presented to us with a fracture at the right parasymphysis and left dentoalveolar region of the mandible and was suffering from cervical dystonia...
2021: Case Reports in Dentistry
#29
JOURNAL ARTICLE
Mélanie Lagière, Marion Bosc, Sara Whitestone, Abdelhamid Benazzouz, Abdeslam Chagraoui, Mark J Millan, Philippe De Deurwaerdère
Dopaminergic medication for Parkinson's disease is associated with troubling dystonia and dyskinesia and, in rodents, dopaminergic agonists likewise induce a variety of orofacial motor responses, certain of which are mimicked by serotonin2C (5-HT2C ) receptor agonists. However, the neural substrates underlying these communalities and their interrelationship remain unclear. In Sprague-Dawley rats, the dopaminergic agonist, apomorphine (0.03-0.3 mg/kg) and the preferential D2/3 receptor agonist quinpirole (0...
November 12, 2020: International Journal of Molecular Sciences
#30
JOURNAL ARTICLE
Thiago Cardoso Vale, Orlando Graziani Povoas Barsottini, José Luiz Pedroso
A 30-year-old man presented with a two-year history of involuntary movements in the face and mouth. Movements progressively worsened during the previous six months. Born from non-consanguineous parents, he had normal developmental milestones and his past medical history was unremarkable. The patient did not take any medication or had a history of illicit drug use. Family history was positive for unsteady gait of unknown cause. Neurological examination disclosed isolated orofacial dystonia affecting the face, particularly his mouth and eyes, resembling Meige's syndrome...
November 10, 2020: Parkinsonism & related Disorders
#31
JOURNAL ARTICLE
Tobias Mantel, Eckart Altenmüller, Yong Li, André Lee, Tobias Meindl, Angela Jochim, Claus Zimmer, Bernhard Haslinger
BACKGROUND: Embouchure dystonia (ED) is a task-specific focal dystonia in professional brass players leading to abnormal orofacial muscle posturing/spasms during performance. Previous studies have outlined abnormal cortical sensorimotor function during sensory/motor tasks and in the resting state as well as abnormal cortical sensorimotor structure. Yet, potentially underlying white-matter tract abnormalities in this network disease are unknown. OBJECTIVE: To delineate structure-function abnormalities within cerebral sensorimotor trajectories in ED...
September 2, 2020: NeuroImage: Clinical
#32
JOURNAL ARTICLE
Anezka Belohlavkova, Katalin Sterbova, Cornelia Betzler, Stuve Burkhard, Axel Panzer, Markus Wolff, Petra Lassuthova, Marketa Vlckova, Martin Kyncl, Barbora Benova, Alena Jahodova, Martin Kudr, Maria Goerg, Petr Dusek, Pavel Seeman, Gerhard Kluger, Pavel Krsek
BACKGROUND: Neurodegeneration with brain iron accumulation constitutes a group of rare progressive movement disorders sharing intellectual disability and neuroimaging findings as common denominators. Beta-propeller protein-associated neurodegeneration (BPAN) represents approximately 7% of the cases, and its first signs are typically epilepsy and developmental delay. We aimed to describe in detail the phenotype of BPAN with a special focus on iron metabolism. MATERIAL AND METHODS: We present a cohort of paediatric patients with pathogenic variants of WD-Repeat Domain 45 gene (WDR45)...
September 2020: European Journal of Paediatric Neurology: EJPN
#33
JOURNAL ARTICLE
Dora Steel, Michael Zech, Chen Zhao, Katy Es Barwick, Derek Burke, Diane Demailly, Kishore R Kumar, Giovanna Zorzi, Nardo Nardocci, Rauan Kaiyrzhanov, Matias Wagner, Arcangela Iuso, Riccardo Berutti, Matej Škorvánek, Ján Necpál, Ryan Davis, Sarah Wiethoff, Kshitij Mankad, Sniya Sudhakar, Arianna Ferrini, Suvasini Sharma, Erik-Jan Kamsteeg, Marina A Tijssen, Corien Verschuuren, Martje E van Egmond, Joanna M Flowers, Meriel McEntagart, Arianna Tucci, Philippe Coubes, Bernabe I Bustos, Paulina Gonzalez-Latapi, Stephen Tisch, Paul Darveniza, Kathleen M Gorman, Kathryn J Peall, Kai Bötzel, Jan C Koch, Tomasz Kmieć, Barbara Plecko, Sylvia Boesch, Bernhard Haslinger, Robert Jech, Barbara Garavaglia, Nick Wood, Henry Houlden, Paul Gissen, Steven J Lubbe, Carolyn M Sue, Laura Cif, Niccolò E Mencacci, Glenn Anderson, Manju A Kurian, Juliane Winkelmann
OBJECTIVES: The majority of people with suspected genetic dystonia remain undiagnosed after maximal investigation, implying that a number of causative genes have not yet been recognised. We aimed to investigate this paucity of diagnoses. METHODS: We undertook weighted burden analysis of whole-exome sequencing data from 138 individuals with unresolved generalised dystonia of suspected genetic aetiology, followed by additional case-finding from international databases, first for the gene implicated by the burden analysis (VPS16), then for other functionally related genes...
August 18, 2020: Annals of Neurology
#34
REVIEW
L Aguilera-Nieto, J Ferrero-Turrión, M D Mora-Ramírez, R Calvo-Medina, C Ruiz-García, J M Ramos-Fernández
INTRODUCTION: Dyskinesia of the ADCY5 mutation is a rare movement-onset disorder in childhood. It is characterized by isolated chorea movements or associated with myoclonus and dystonia affecting the limbs, neck and face. The low number of patients and families still does not allow an adequate genotype-phenotype relationship. AIMS: The case of a child with movement disorders of early onset is presented in a family with three generations of affected members. An updated review of the casuistry and management of this rare disease is made...
July 16, 2020: Revista de Neurologia
#35
EDITORIAL
Luca Marsili, Daniel D Truong
No abstract text is available yet for this article.
October 15, 2020: Journal of the Neurological Sciences
#36
JOURNAL ARTICLE
Yuwadee Thongchuam, Pattamon Panyakaew, Roongroj Bhidayasiri
BACKGROUND: Orofacial dystonia (OFD) is considered a supporting feature for a diagnosis of Multiple System Atrophy (MSA). However, the association of OFD with other adjacent symptoms has not been explored. OBJECTIVES: To identify clinical characteristics of OFD and associated bulbar symptoms in MSA patients. METHODS: In this blinded trial, video clips of 24 MSA patients were reviewed by two movement disorder neurologists who rated the presence of OFD...
October 15, 2020: Journal of the Neurological Sciences
#37
JOURNAL ARTICLE
Asha Sude, Donald R Nixdorf
OBJECTIVE: The aim of this study was to describe the prevalence and clinical characteristics of patients with oromandibular dystonia (OMD) presenting to an academic orofacial pain clinic. OMD diagnosis was based on clinical signs and symptoms, presenting in varied forms and severities. Knowledge of clinical characteristics would help in early diagnosis and treatment of OMD. STUDY DESIGN: In this retrospective study, we identified patients with OMD (International Classification of Diseases [ICD]-9 diagnostic code 333...
May 17, 2020: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology
#38
JOURNAL ARTICLE
Kazuya Yoshida
Background: Functional (psychogenic) movement disorders often have distinguishable clinical features in the orofacial region. Tonic mandibular deviation accompanying ipsilateral downward and lateral lip pulling is the most common phenotype seen in patients with facial functional movement disorders. However, functional movement disorders in the stomatognathic system are underrecognized. Objective: This study aimed to evaluate clinical characteristics and phenomenology in patients with functional movement disorders in the stomatognathic system...
2020: Frontiers in Neurology
#39
REVIEW
Maria-Angeles Serrera-Figallo, Gonzalo Ruiz-de-León-Hernández, Daniel Torres-Lagares, Alejandra Castro-Araya, Omar Torres-Ferrerosa, Esther Hernández-Pacheco, Jose-Luis Gutierrez-Perez
INTRODUCTION: Botulinum neurotoxin (BoNT) is a potent biological toxin and powerful therapeutic tool for a growing number of clinical orofacial applications. BoNT relaxes striated muscle by inhibiting acetylcholine's release from presynaptic nerve terminals, blocking the neuromuscular junction. It also has an antinociceptive effect on sensory nerve endings, where BoNT and acetylcholine are transported axonally to the central nervous system. In dentistry, controlled clinical trials have demonstrated BoNT's efficiency in pathologies such as bruxism, facial paralysis, temporomandibular joint (TMJ) disorders, neuropathic pain, sialorrhea, dystonia and more...
February 11, 2020: Toxins
#40
JOURNAL ARTICLE
Ruili Zhang, Jianbo Lai, Jinwen Huang
RATIONALE: Promethazine is an antihistamine agent used commonly for nausea and allergy. Along with its anticholinergic and antidopaminergic functions, promethazine is also used for psychiatric symptoms, such as troubling sleep, anxiety, and agitation. Previous studies have reported that promethazine may occasionally elicit acute dystonia in some individuals, especially for young children and pregnant women. PATIENT CONCERNS: The 68-year-old female patient was admitted to our hospital because of feeling anxious and intermittent palpitation for over 1 year...
October 2019: Medicine (Baltimore)
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