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craniocervical dystonia

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...
February 21, 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
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
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
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
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
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
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
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
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
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
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
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
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
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
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
Tsukasa Saito, Takayuki Katayama, Jun Sawada, Kohei Kano, Asuka Asanome, Kae Takahashi, Nobuyuki Sato, Naoyuki Hasebe
Segmental craniocervical dystonia is characterized by blephalospasm and oromandibular dystonia and is also called Meige syndrome. The current treatment strategy including botulinum toxin (BTX) injections has not yet attained an acceptable level. We describe a long-term favorable response of a novel combination therapy with aripiprazole (ARP), trihexyphenidyl (THP), and BTX in three patients with segmental craniocervical dystonia. The symptoms of three patients responded promptly to the combination therapy with ARP 3-6 mg daily, THP 2-8 mg daily, and BTX...
February 2015: Neurological Sciences
Roberta Weber Werle, Sibele Yoko Mattozo Takeda, Marise Bueno Zonta, Ana Tereza Bittencourt Guimarães, Hélio Afonso Ghizoni Teive
OBJECTIVE: Describe the functional, clinical and quality of life (QoL) profiles in patients with cervical dystonia (CD) with residual effect or without effect of botulinum toxin (BTX), as well as verify the existence of correlation between the level of motor impairment, pain and QoL. METHOD: Seventy patients were assessed through the Craniocervical dystonia questionnaire-24 (CDQ-24) and the Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS). RESULTS: The greater the disability, pain and severity of dystonia, the worse the QoL (p<0...
June 2014: Arquivos de Neuro-psiquiatria
Valerija Dobričić, Nikola Kresojević, Ana Westenberger, Marina Svetel, Aleksandra Tomić, Vesna Ralić, Igor Petrović, Milica Ječmenica Lukić, Katja Lohmann, Ivana Novaković, Christine Klein, Vladimir S Kostić
BACKGROUND: Mutations in GNAL (DYT25) have recently been established as the first confirmed cause of focal or segmental adult-onset dystonia. Mutation carriers show craniocervical involvement; however, the GNAL mutational and phenotypic spectrum remain to be further characterized, and guidelines for diagnostic testing need to be established. METHODS: The authors used Sanger sequencing to test for changes in the GNAL coding or splice-site regions in 236 Serbian patients suffering from isolated dystonia with craniocervical involvement...
August 2014: Movement Disorders: Official Journal of the Movement Disorder Society
S B Buklina, V A Shabalov, A A Tomskiĭ, A A Bondarenko, A A Gamaleia
Forty-three patients with primary dystonia underwent neuropsychological assessment according to the method of A.R. Luria. Twenty-three patients with generalized dystonia and 20 with local forms (cervical and craniocervical) were included in the study. All patients were evaluated before pallidal deep brain stimulation (DBS GPi), 32 patients were examined 3-6 days after surgery, and 26 patients - during the first two years of the postoperative follow-up. The evaluation before surgery revealed cognitive impairment in 41 patients...
2014: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
Kishore R Kumar, Katja Lohmann, Ikuo Masuho, Ryosuke Miyamoto, Andreas Ferbert, Thora Lohnau, Meike Kasten, Johann Hagenah, Norbert Brüggemann, Julia Graf, Alexander Münchau, Vladimir S Kostic, Carolyn M Sue, Aloysius R Domingo, Raymond L Rosales, Lilian V Lee, Karen Freimann, Ana Westenberger, Youhei Mukai, Toshitaka Kawarai, Ryuji Kaji, Christine Klein, Kirill A Martemyanov, Alexander Schmidt
IMPORTANCE: Mutations in the GNAL gene have recently been shown to cause primary torsion dystonia. The GNAL-encoded protein (Gαolf) is important for dopamine D1 receptor function and odorant signal transduction. We sequenced all 12 exons of GNAL in 461 patients from Germany, Serbia, and Japan, including 318 patients with dystonia (190 with cervical dystonia), 51 with hyposmia and Parkinson disease, and 92 with tardive dyskinesia or acute dystonic reactions. OBSERVATIONS: We identified the following two novel heterozygous putative mutations in GNAL: p...
April 2014: JAMA Neurology
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