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craniocervical dystonia

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https://www.readbyqxmd.com/read/29145188/brueghel-syndrome-or-meige-syndrome-two-sides-of-a-same-disease
#1
M Béreau, L Tatu
Different eponyms such as "Wood syndrome," Meige syndrome, "Brueghel syndrome," "Blepharospasm plus syndrome" have been used to describe segmental craniocervical dystonias. These facial and/or oromandibular movement disorders are characterized by muscle contractions and spasms involving eyes, facial region, and sometimes pharynx, jaw, floor of the mouth, and tongue. The pathophysiology of craniocervical dystonia is poorly understood, but abnormal plasticity and impaired inhibition are suspected. Injection of botulinum toxin appears to be the best therapeutic option for treating segmental craniocervical dystonia...
2018: Frontiers of Neurology and Neuroscience
https://www.readbyqxmd.com/read/29114239/botulinumtoxin-improves-both-generic-and-disease-specific-quality-of-life-in-cervical-dystonia
#2
Daniel Weiss, Leonhard Hieber, Justine Sturm, Axel Börtlein, Ingo Mayr, Matthias Appy, Benedicta Kühnler, Joachim Buchthal, Christian Dippon, Guy Arnold, Tobias Wächter
Botulinumtoxin injection (BoNT) into affected muscles is effective to improve motor symptoms of cervical dystonia (CD) by reducing muscle contraction and involuntary dystonic movement and posturing. However, the understanding of the effect on health-related quality of life (HR-QoL) and patient referral under HR-QoL aspects is incomplete. In this open-label clinical prospective observational study, we characterized the outcomes in CD (n = 159) from botulinumtoxin on both generic HR-QoL (EuroQol; EQ-5D-5L) and disease-specific HR-QoL [craniocervical dystonia questionnaire (CDQ-24)]...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28975046/intractable-blepharospasm-treated-with-bilateral-pallidal-deep-brain-stimulation
#3
Nijee S Luthra, Kyle T Mitchell, Monica M Volz, Idit Tamir, Phillip A Starr, Jill L Ostrem
BACKGROUND: Blepharospasm can be present as an isolated dystonia or in conjunction with other forms of cranial dystonia, causing significant disability. CASE REPORT: We report a case of a 69-year-old male with craniocervical dystonia, manifesting primarily as incapacitating blepharospasm refractory to medical treatments. He underwent bilateral globus pallidus (GP) deep brain stimulation (DBS) with complete resolution of his blepharospasm and sustained benefit at 12 months postoperatively...
2017: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/28829782/exploratory-structural-assessment-in-craniocervical-dystonia-global-and-differential-analyses
#4
Larissa Vilany, Thiago J R de Rezende, Luiza G Piovesana, Lidiane S Campos, Paula C de Azevedo, Fabio R Torres, Marcondes C França, Augusto C Amato-Filho, Iscia Lopes-Cendes, Fernando Cendes, Anelyssa D'Abreu
INTRODUCTION: Our goal was to investigate the cortical thickness and subcortical volume in subjects with craniocervical dystonia and its subgroups. METHODS: We studied 49 subjects, 17 with cervical dystonia, 18 with blepharospasm or oromandibular dystonia, and 79 healthy controls. We performed a whole group analysis, followed by a subgroup analysis. We used Freesurfer software to measure cortical thickness, subcortical volume and to perform a primary exploratory analysis in the craniocervical dystonia group, complemented by a region of interest analysis...
2017: PloS One
https://www.readbyqxmd.com/read/28761904/iglon5-antibody-neurological-accompaniments-and-outcomes-in-20-patients
#5
Josephe A Honorat, Lars Komorowski, Keith A Josephs, Kai Fechner, Erik K St Louis, Shannon R Hinson, Sabine Lederer, Neeraj Kumar, Avi Gadoth, Vanda A Lennon, Sean J Pittock, Andrew McKeon
OBJECTIVE: To describe the phenotypes, treatment response, and outcome of IgLON5 autoimmunity. METHODS: Archived serum and CSF specimens from 367 patients known to harbor unclassified antibodies which stained neural synapses diffusely (mimicking amphiphysin-IgG) were reevaluated by indirect immunofluorescence assay (IFA) using a composite of mouse tissues and recombinant IgLON5-transfected cell-based assay (CBA, Euroimmun). RESULTS: Available specimens (serum, 25; CSF, 9) from 26/367 patients (7%) had identical IFA appearance and robust IgLON5 CBA positivity...
September 2017: Neurology® Neuroimmunology & Neuroinflammation
https://www.readbyqxmd.com/read/28220607/neurological-and-spinal-manifestations-of-the-ehlers-danlos-syndromes
#6
REVIEW
Fraser C Henderson, Claudiu Austin, Edward Benzel, Paolo Bolognese, Richard Ellenbogen, Clair A Francomano, Candace Ireton, Petra Klinge, Myles Koby, Donlin Long, Sunil Patel, Eric L Singman, Nicol C Voermans
The Ehlers-Danlos syndromes (EDS) are a heterogeneous group of heritable connective tissue disorders characterized by joint hypermobility, skin extensibility, and tissue fragility. This communication briefly reports upon the neurological manifestations that arise including the weakness of the ligaments of the craniocervical junction and spine, early disc degeneration, and the weakness of the epineurium and perineurium surrounding peripheral nerves. Entrapment, deformation, and biophysical deformative stresses exerted upon the nervous system may alter gene expression, neuronal function and phenotypic expression...
March 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28138245/quality-of-life-in-cervical-dystonia-after-treatment-with-botulinum-toxin-a-a-24-week-prospective-study
#7
Subsai Kongsaengdao, Benchalak Maneeton, Narong Maneeton
OBJECTIVE: This study aimed to identify possible improvements in disease-specific health-related quality of life (HRQoL) after multiple injections of botulinum toxin A over 24 weeks in Thai cervical dystonia (CD) patients. MATERIALS AND METHODS: A 24-week prospective study comparing HRQoL of Thai CD patients before and after multiple injections of botulinum toxin A at 3-month intervals was performed. Disease-specific HRQoL was assessed by using the Cervical Dystonia Impact Profile-58 questionnaire (CDIP-58) and the Craniocervical Dystonia Questionnaire-24 (CDQ-24)...
2017: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/27919237/a-novel-ano3-variant-identified-in-a-53-year-old-woman-presenting-with-hyperkinetic-dysarthria-blepharospasm-hyperkinesias-and-complex-motor%C3%A2-tics
#8
Patrick R Blackburn, Michael T Zimmermann, Jennifer M Gass, Kimberly G Harris, Margot A Cousin, Nicole J Boczek, Owen A Ross, Eric W Klee, Paul W Brazis, Jay A Van Gerpen, Paldeep S Atwal
BACKGROUND: Cervical dystonias have a variable presentation and underlying etiology, but collectively represent the most common form of focal dystonia. There are a number of known genetic forms of dystonia (DYT1-27); however the heterogeneity of disease presentation does not always make it easy to categorize the disease by phenotype-genotype comparison. CASE PRESENTATION: In this report, we describe a 53-year-old female who presented initially with hand tremor following a total hip arthroplasty...
December 5, 2016: BMC Medical Genetics
https://www.readbyqxmd.com/read/27910093/headache-attributed-to-craniocervical-dystonia-a-little-known-headache
#9
REVIEW
Marcos Eugenio Ramalho Bezerra, Pedro Augusto Sampaio Rocha-Filho
BACKGROUND: Craniocervical dystonia is a focal or segmental dystonia in its distribution, classically known as spasmodic torticollis when in its pure cervical presentation. Although craniocervical dystonia has been recognized as a possible cause of headache since the publication of the second version of International Classification of Headache Disorders, there are few studies about this entity. METHOD: This was a narrative review. RESULTS: Craniocervical dystonia was associated with muscle pain in 67-89% of the cases...
February 2017: Headache
https://www.readbyqxmd.com/read/27536464/impact-of-neu-botulinumtoxina-on-the-severity-and-quality-of-life-of-cervical-dystonia-patients
#10
Priya Jagota, Lalita Kaewwilai, Nonglak Boonrod, Surat Singmaneesakulchai, Kamolwan Boonpang, Jirada Sringean, Onanong Jitkritsadakul, Sitthi Petchrutchatachart
BACKGROUND: Cervical dystonia (CD) is a debilitating neurological disorder that may gravely affect a patient's quality of life (QoL). Botulinum toxin treatment has been approved as a first-line treatment for this condition. This study aims to look at the efficacy and impact on the QoL of neu-botulinumtoxinA, a newer and cheaper botulinum toxin type A, in patients with CD. METHODS: This is a prospective, open-label, single-arm study. CD patients were recruited and evaluated for severity of CD using the Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS), and for QoL using the Craniocervical Dystonia Questionnaire (CDQ-24), and the 36-item Short Form Health Survey questionnaire (SF-36) at baseline and 6 weeks after injection...
2016: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/27138215/cervical-dystonia-and-quality-of-life
#11
Svetlana Tomic, Ivana Petkovic, Tomislav Pucic, Bojan Resan, Stjepan Juric, Tatjana Rotim
Cervical dystonia is focal dystonia characterized by involuntary movement of the neck muscle, which leads to abnormal head posture. It can be accompanied with pain and tremor. In this study, we evaluated the presence of depression and anxiety in patients with cervical dystonia and the influence of dystonia symptoms on the quality of life. Psychiatric symptoms were evaluated by use of the Beck Depression Inventory (BDI-II) and Beck Anxiety Inventory. Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS) was used to evaluate the cervical dystonia symptoms...
December 2016: Acta Neurologica Belgica
https://www.readbyqxmd.com/read/27100856/long-term-follow-up-with-video-of-a-patient-with-deafness-dystonia-syndrome-treated-with-dbs-gpi
#12
Jaroslaw Dulski, Michal Schinwelski, Tomasz Mandat, Karolina Pienczk-Ręcławowicz, Jaroslaw Sławek
BACKGROUND: The prevalence of deafness-dystonia syndrome (DDS) is relatively low. To our knowledge, only 2 cases of this syndrome treated with deep brain stimulation (DBS) have been reported. OBJECTIVES: We present a patient with DDS of unknown cause, refractory to medical treatment, who has been successfully treated with DBS of the internal globus pallidus (DBS-GPi) and followed up for 4 years. METHODS: A 21-year-old male, with progressive bilateral sensorineural hearing loss since the age of 3, developed dystonic movements at the age of 12...
2016: Stereotactic and Functional Neurosurgery
https://www.readbyqxmd.com/read/26978507/-meige-s-syndrome-or-segmental-craniocervical-dystonia-terminology-history-and-contemporary-view
#13
Z A Zalyalova
The term "Meige's syndrome" or "Breughel's syndrome" is used by specialists for the description of blepharospasm with the involuntary movements in the lower part of the face and/or masseter muscle. These eponyms "Meige's syndrome" and "Breughel's syndrome" make some mess in the terminology. The term "segmental craniocervical dystonia" joins different blepharospam-plus phenotypes and reflects contemporary perceptions about its genetic and pathophysiological community. Botulinotherapy is in fact the only way of symptomathic treatment of craniocervical dystonias...
2015: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/26884222/bruxism-in-craniocervical-dystonia-a-prospective-study
#14
Laetitia Borie, Nicolas Langbour, Dominique Guehl, Pierre Burbaud, Bruno Ella
AIMS: Bruxism pathophysiology remains unclear, and its occurrence has been poorly investigated in movement disorders. The aim of this study was to compare the frequency of bruxism in patients with craniocervical dystonia vs. normal controls and to determine its associated clinical features. METHOD: This is a prospective-control study. A total of 114 dystonic subjects (45 facial dystonia, 69 cervical dystonia) and 182 controls were included. Bruxism was diagnosed using a hetero-questionnaire and a clinical examination performed by trained dentists...
September 2016: Cranio: the Journal of Craniomandibular Practice
https://www.readbyqxmd.com/read/26788346/reversible-craniocervical-dystonia-associated-with-levofloxacin
#15
Karlo J Lizarraga, Maria R Lopez, Carlos Singer
BACKGROUND: Dystonia is a hyperkinetic movement disorder related to dysfunction of inhibitory basal ganglia and cortical circuits. GABA is the major inhibitory neurotransmitter in the central nervous system. Quinolones can rarely produce serious neurologic effects, which have been attributed to impaired inhibition through GABA antagonism. We report a case of reversible craniocervical dystonia associated with oral levofloxacin. CASE PRESENTATION: A 62-year-old man on hemodialysis presented with craniocervical dystonia 3 days after initiation of levofloxacin 500 mg...
2015: Journal of Clinical Movement Disorders
https://www.readbyqxmd.com/read/26399458/deep-brain-stimulation-for-craniocervical-dystonia-meige-syndrome-a-report-of-four-patients-and-a-literature-based-analysis-of-its-treatment-effects
#16
REVIEW
Xiu Wang, Chao Zhang, Yao Wang, Chang Liu, Baotian Zhao, Jian-Guo Zhang, Wenhan Hu, Xiaoqiu Shao, Kai Zhang
OBJECTIVES: The aim of this study was to report on four patients with craniocervical dystonia (CCD) treated with deep brain stimulation (DBS). In addition, we investigated the treatment efficacy and surgical outcome predictors by the review and analysis of previously published studies. METHODS: Four patients with CCD underwent DBS of the globus pallidus internus (Gpi) or subthalamus nucleus (STN). PubMed and MEDLINE searches were performed to obtain detailed information on patients who underwent DBS for CCD...
December 2016: Neuromodulation: Journal of the International Neuromodulation Society
https://www.readbyqxmd.com/read/26324211/hyoid-muscle-dystonia-a-distinct-focal-dystonia-syndrome
#17
E Norby, D Orbelo, E Strand, J Duffy, D Ekbom, J Bower, J Matsumoto
INTRODUCTION: Adult-onset dystonias are often segmental in distribution and preferentially affect the craniocervical muscles. Here we describe an overlooked muscle group involved in craniocervical dystonia - the hyoid muscles. Dystonia of these muscles results in anterior neck tightness, speech changes, and dysphagia. METHODS: For this retrospective study we obtained a list of 55 patients who had received botulinum toxin injections into hyoid muscles between 1998 and 2013...
October 2015: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/26056610/white-matter-microstructure-in-idiopathic-craniocervical-dystonia
#18
Giordanna L S Pinheiro, Rachel P Guimarães, Luiza G Piovesana, Brunno M Campos, Lidiane S Campos, Paula C Azevedo, Fabio R Torres, Augusto C Amato-Filho, Marcondes C França, Iscia Lopes-Cendes, Fernando Cendes, Anelyssa D'Abreu
BACKGROUND: Dystonias are hyperkinetic movement disorders characterized by involuntary muscle contractions resulting in abnormal torsional movements and postures. Recent neuroimaging studies in idiopathic craniocervical dystonia (CCD) have uncovered the involvement of multiple areas, including cortical ones. Our goal was to evaluate white matter (WM) microstructure in subjects with CCD using diffusion tensor imaging (DTI) analysis. METHODS: We compared 40 patients with 40 healthy controls...
2015: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/25620953/diffuse-decreased-gray-matter-in-patients-with-idiopathic-craniocervical-dystonia-a-voxel-based-morphometry-study
#19
Camila C Piccinin, Luiza G Piovesana, Maria C A Santos, Rachel P Guimarães, Brunno M De Campos, Thiago J R Rezende, Lidiane S Campos, Fabio R Torres, Augusto C Amato-Filho, Marcondes C França, Iscia Lopes-Cendes, Fernando Cendes, Anelyssa D'Abreu
BACKGROUND: Recent studies have addressed the role of structures other than the basal ganglia in the pathophysiology of craniocervical dystonia (CCD). Neuroimaging studies have attempted to identify structural abnormalities in CCD but a clear pattern of alteration has not been established. We performed whole-brain evaluation using voxel-based morphometry (VBM) to identify patterns of gray matter (GM) changes in CCD. METHODS: We compared 27 patients with CCD matched in age and gender to 54 healthy controls...
2014: Frontiers in Neurology
https://www.readbyqxmd.com/read/25168324/intrafamilial-variability-of-the-primary-dystonia-dyt6-phenotype-caused-by-p-cys5trp-mutation-in-thap1-gene
#20
Marta Jurek, Dorota Hoffman-Zacharska, Dariusz Koziorowski, Jacek Mądry, Andrzej Friedman, Jerzy Bal
Mutations localized in THAP1 gene, locus 18p11.21 have been reported as causative of primary dystonia type 6 (DYT6). Disease which is characterized mainly by focal dystonia, frequently involving the craniocervical region, however associated also with early-onset generalized dystonia and spasmodic dysphonia. Here we report a novel mutation in the THAP1 gene identified in a Polish family with DYT6 phenotype - the c.15C>G substitution in exon 1 introducing the missense mutation p.Cys5Trp within the N-terminal THAP domain...
2014: Neurologia i Neurochirurgia Polska
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