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https://www.readbyqxmd.com/read/28102337/deep-brain-stimulation-for-myoclonus-dystonia-syndrome-with-double-mutations-in-dyt1-and-dyt11
#1
Jia-Wei Wang, Ji-Ping Li, Yun-Peng Wang, Xiao-Hua Zhang, Yu-Qing Zhang
Myoclonus-dystonia syndrome (MDS) is a rare autosomal dominant inherited disorder characterized by the presentation of both myoclonic jerks and dystonia. Evidence is emerging that deep brain stimulation (DBS) may be a promising treatment for MDS. However, there are no studies reporting the effects of DBS on MDS with double mutations in DYT1 and DYT11. Two refractory MDS patients with double mutations were treated between 2011 and 2015 in our center. Genetic testing for DYT1 and DYT11 was performed through polymerase chain reaction amplification and direct sequencing of the specific exons of genes...
January 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28055131/subthalamic-nuclei-stimulation-in-patients-with-pantothenate-kinase-associated-neurodegeneration-pkan
#2
Ziyuan Liu, Yang Liu, Yingmai Yang, Lin Wang, Wanchen Dou, Jinzhu Guo, Yu Wang, Yi Guo, Xinhua Wan, Wenbin Ma, Renzhi Wang
INTRODUCTION: Pantothenate kinase-associated neurodegeneration (PKAN) is a rare autosomal recessive genetic disease that leads to extrapyramidal symptoms, such as dystonia, ataxia, dysarthria, and involuntary movements. Treatment of PKAN with deep brain stimulation (DBS) has been reported, but mainly focuses on targeting the globus pallidus internus (GPi). Subthalamic nuclei (STN) may also be a potential target for treatment of PKAN. METHODS: In this study, we reviewed three patients with PKAN (two with typical PKAN and one with atypical PKAN) treated by bilateral STN stimulation and present a review of the literature...
January 5, 2017: Neuromodulation: Journal of the International Neuromodulation Society
https://www.readbyqxmd.com/read/28017556/bilateral-globus-pallidus-internus-deep-brain-stimulation-for-dyskinetic-cerebral-palsy-supports-success-of-cochlear-implantation-in-a-5-year-old-ex-24%C3%A2-week-preterm-twin-with-absent-cerebellar-hemispheres
#3
Jean-Pierre Lin, Margaret Kaminska, Sarah Perides, Hortensia Gimeno, Lesley Baker, Daniel E Lumsden, Anzell Britz, Sandra Driver, Alec Fitzgerald-O'Connor, Richard Selway
BACKGROUND: Early onset dystonia (dyskinesia) and deafness in childhood pose significant challenges for children and carers and are the cause of multiple disability. It is particularly tragic when the child cannot make use of early cochlear implantation (CI) technology to relieve deafness and improve language and communication, because severe cervical and truncal dystonia brushes off the magnetic amplifier behind the ears. Bilateral globus pallidus internus (GPi) deep brain stimulation (DBS) neuromodulation can reduce dyskinesia, thus supporting CI neuromodulation success...
December 10, 2016: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/27998652/the-need-for-non-oral-therapy-in-parkinson-s-disease-a-potential-role-for-apomorphine
#4
Teus van Laar, Robbert Borgemeester
In the course of Parkinson's disease (PD), oral medication may lose its effectiveness due to several reasons, like dysphagia, impaired absorption from the gastro-intestinal tract and delayed emptying of the stomach. If these problems occur, a non-oral therapy should be considered. Examples of non-oral therapies are transdermal patches, (e.g. rotigotine) which may overcome motor and nonmotor nighttime problems, and may serve as well to treat daytime response-fluctuations, if oral therapies fail to do so. Other options are injections with apomorphine to treat early morning dystonia and random off-periods during daytime, as well as continuously infused subcutaneous apomorphine for random fluctuations in PD patients...
December 2016: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/27992417/mutations-in-the-histone-methyltransferase-gene-kmt2b-cause-complex-early-onset-dystonia
#5
Esther Meyer, Keren J Carss, Julia Rankin, John M E Nichols, Detelina Grozeva, Agnel P Joseph, Niccolo E Mencacci, Apostolos Papandreou, Joanne Ng, Serena Barral, Adeline Ngoh, Hilla Ben-Pazi, Michel A Willemsen, David Arkadir, Angela Barnicoat, Hagai Bergman, Sanjay Bhate, Amber Boys, Niklas Darin, Nicola Foulds, Nicholas Gutowski, Alison Hills, Henry Houlden, Jane A Hurst, Zvi Israel, Margaret Kaminska, Patricia Limousin, Daniel Lumsden, Shane McKee, Shibalik Misra, Shekeeb S Mohammed, Vasiliki Nakou, Joost Nicolai, Magnus Nilsson, Hardev Pall, Kathryn J Peall, Gregory B Peters, Prab Prabhakar, Miriam S Reuter, Patrick Rump, Reeval Segel, Margje Sinnema, Martin Smith, Peter Turnpenny, Susan M White, Dagmar Wieczorek, Sarah Wiethoff, Brian T Wilson, Gidon Winter, Christopher Wragg, Simon Pope, Simon J H Heales, Deborah Morrogh, Alan Pittman, Lucinda J Carr, Belen Perez-Dueñas, Jean-Pierre Lin, Andre Reis, William A Gahl, Camilo Toro, Kailash P Bhatia, Nicholas W Wood, Erik-Jan Kamsteeg, Wui K Chong, Paul Gissen, Maya Topf, Russell C Dale, Jonathan R Chubb, F Lucy Raymond, Manju A Kurian
Histone lysine methylation, mediated by mixed-lineage leukemia (MLL) proteins, is now known to be critical in the regulation of gene expression, genomic stability, cell cycle and nuclear architecture. Despite MLL proteins being postulated as essential for normal development, little is known about the specific functions of the different MLL lysine methyltransferases. Here we report heterozygous variants in the gene KMT2B (also known as MLL4) in 27 unrelated individuals with a complex progressive childhood-onset dystonia, often associated with a typical facial appearance and characteristic brain magnetic resonance imaging findings...
December 19, 2016: Nature Genetics
https://www.readbyqxmd.com/read/27990311/rescue-pallidotomy-for-dystonia-through-implanted-deep-brain-stimulation-electrode
#6
Patric Blomstedt, Takaomi Taira, Marwan Hariz
BACKGROUND: Some patients with deep brain stimulation (DBS), where removal of implants is indicated due to hardware related infections, are not candidates for later re-implantation. In these patients a rescue lesion through the DBS electrode has been suggested as an option. In this case report we present a patient where a pallidotomy was performed using the DBS electrode. CASE DESCRIPTION: An elderly woman with bilateral Gpi DBS suffered an infection around the left burr hole involving the DBS electrode...
2016: Surgical Neurology International
https://www.readbyqxmd.com/read/27940307/comparison-of-oscillatory-activity-in-subthalamic-nucleus-in-parkinson-s-disease-and-dystonia
#7
Xinyi Geng, Jianguo Zhang, Yin Jiang, Keyoumars Ashkan, Thomas Foltynie, Patricia Limousin, Ludvic Zrinzo, Alexander Green, Tipu Aziz, Peter Brown, Shouyan Wang
OBJECTIVES: Deep brain stimulation (DBS) of the subthalamic nucleus (STN) has been successfully used to treat both Parkinson's disease (PD) and dystonia. Local field potentials (LFPs) recorded from the STN of PD patients demonstrate prominent beta frequency band activity. It is unclear whether such activity occurs in the STN in dystonia, and, if not, whether dystonia has another distinctive neural population activity in the STN. METHODS: Twelve patients with PD, and eight patients with dystonia underwent DBS electrode implantation targeting the STN...
February 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/27914146/pregnancy-and-delivery-in-a-generalized-dystonia-patient-treated-with-internal-globus-pallidal-deep-brain-stimulation-a-case-report
#8
Hye Ran Park, Jae Meen Lee, Hyeyoung Park, Chae Won Shin, Han Joon Kim, Hee Pyoung Park, Dong Gyu Kim, Beom Seok Jeon, Sun Ha Paek
Internal globus pallidus (GPi) deep brain stimulation (DBS) has been widely accepted as an effective treatment modality of medically refractory dystonia. However, there have been few studies regarding the safety issue of pregnancy and childbirth related with DBS. This report describes a female patient who was pregnant and delivered a baby after GPi DBS surgery. A 33-year-old female patient with acquired generalized dystonia underwent bilateral GPi DBS implantation. She obtained considerable improvement in both movement and disability after DBS implantation...
January 2017: Journal of Korean Medical Science
https://www.readbyqxmd.com/read/27903810/subthalamic-nucleus-deep-brain-stimulation-in-isolated-dystonia-a-3-year-follow-up-study
#9
Jill L Ostrem, Marta San Luciano, Kristen A Dodenhoff, Nathan Ziman, Leslie C Markun, Caroline A Racine, Coralie de Hemptinne, Monica M Volz, Susan L Heath, Philip A Starr
OBJECTIVE: To report long-term safety and efficacy outcomes of a large cohort of patients with medically refractory isolated dystonia treated with subthalamic nucleus (STN) deep brain stimulation (DBS). METHODS: Twenty patients (12 male, 8 female; mean age 49 ± 16.3 years) with medically refractory isolated dystonia were studied (14 were followed for 36 months). The primary endpoints were change in Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) motor score and Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS) total score at 36 months compared to preoperative baseline...
January 3, 2017: Neurology
https://www.readbyqxmd.com/read/27873569/establishing-a-standard-of-care-for-deep-brain-stimulation-centers-in-canada
#10
Michel Panisset, Marina Picillo, Nicolas Jodoin, Yu-Yan Poon, Alejandro Valencia-Mizrachi, Alfonso Fasano, Renato Munhoz, Christopher R Honey
During the "DBS Canada Day" symposium held in Toronto July 4-5, 2014, the scientific committee invited experts to share their knowledge regarding deep brain stimulation (DBS) management of movement disorders in three domains: (1) the programming algorithms, (2) the necessary team to run a neurosurgery program, and (3) the appropriate scales to better define in a more comprehensive fashion the effect of the brain surgery. Each presentation was followed by an open discussion, and this article reports on the conclusions of this meeting on these three questions...
November 22, 2016: Canadian Journal of Neurological Sciences. le Journal Canadien des Sciences Neurologiques
https://www.readbyqxmd.com/read/27862612/the-role-of-the-pallidothalamic-fibre-tracts-in-deep-brain-stimulation-for-dystonia-a-diffusion-mri-tractography-study
#11
Verena Eveline Rozanski, Nadia Moreira da Silva, Seyed-Ahmad Ahmadi, Jan Mehrkens, Joao da Silva Cunha, Jean-Christophe Houde, Christian Vollmar, Kai Bötzel, Maxime Descoteaux
BACKGROUND: Deep Brain Stimulation (DBS) of the Globus pallidus internus (GPi) is gold standard treatment in medically refractory dystonia. Recent evidence indicates that stimulation effects are also due to axonal modulation and affection of a fibre network. For the GPi, the pallidothalamic tracts are known to be the major motor efferent pathways. The aim of this study is to explore the anatomic vicinity of these tracts and DBS electrodes in dystonia applying diffusion tractography. METHODS: Diffusion MRI was acquired in ten patients presenting for DBS for dystonia...
November 16, 2016: Human Brain Mapping
https://www.readbyqxmd.com/read/27862284/dystonia-deafness-syndrome-caused-by-a-%C3%AE-actin-gene-mutation-and-response-to-deep-brain-stimulation
#12
Hendriekje Eggink, Martje E van Egmond, Corien C Verschuuren-Bemelmans, Marleen C Schönherr, Tom J de Koning, D L Marinus Oterdoom, J Marc C van Dijk, Marina A J Tijssen
INTRODUCTION: Dystonia-deafness syndrome is a distinct clinical presentation within the dystonia-spectrum. Although several genetic and acquired causes have been reported, etiology remains unknown in the majority of patients. OBJECTIVES: To describe two patients with dystonia-deafness syndrome due to a beta-actin gene mutation. METHODS: We report on disease course, genetic testing, and management of 2 patients, mother and daughter, presenting with dystonia-deafness syndrome...
November 8, 2016: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/27836806/hypometric-anticipatory-postural-adjustments-in-dystonia-are-not-affected-by-deep-brain-stimulation-of-globus-pallidus-internus
#13
Gregor Brecl Jakob, Olena Pelykh, Annika Plate, Zuzana Košutzká, Zvezdan Pirtošek, Maja Trošt, Joseph Ilmberger, Peter Valkovic, Jan H Mehrkens, Kai Bötzel
BACKGROUND: Dystonia is a movement disorder with patterned, directional, and often sustained muscle contractions that produce abnormal postures or repetitive movements. Deep brain stimulation (DBS) of the globus pallidus internus (GPi) is an effective and safe treatment for medically refractory dystonia. However, recent studies reported gait problems, gait freezing and falls in patients treated with DBS. Because these symptoms may point to deficient gait initiation processes, we systematically assessed the anticipatory postural adjustments (APAs) prior to stepping in dystonia patients with GPi-DBS...
January 1, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/27836441/stable-cognitive-functioning-with-improved-perceptual-reasoning-in-children-with-dyskinetic-cerebral-palsy-and-other-secondary-dystonias-after-deep-brain-stimulation
#14
Tamsin Owen, Dolapo Adegboye, Hortensia Gimeno, Richard Selway, Jean-Pierre Lin
BACKGROUND: Dystonia is characterised by involuntary movements (twisting, writhing and jerking) and postures. Secondary dystonias are described as a heterogeneous group of disorders with both exogenous and endogenous causes. There is a growing body of literature on the effects of deep brain stimulation (DBS) surgery on the motor function in childhood secondary dystonias, however research on cognitive function after DBS is scarce. METHODS: Cognitive function was measured in a cohort of 40 children with secondary dystonia following DBS surgery using a retrospective repeated measures design...
October 21, 2016: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/27821134/asphyxia-due-to-laryngeal-spasm-as-a-severe-complication-of-awake-deep-brain-stimulation-for-parkinson-s-disease-a-case-report
#15
Kajetan L von Eckardstein, Friederike Sixel-Döring, Stephan Kazmaier, Claudia Trenkwalder, Jason M Hoover, Veit Rohde
BACKGROUND: In accordance with German neurosurgical and neurological consensus recommendations, lead placements for deep brain stimulation (DBS) in patients with Parkinson's disease (PD) are usually performed with the patient awake and in "medication off" state. This allows for optimal lead position adjustment according to the clinical response to intraoperative test stimulation. However, exacerbation of Parkinsonian symptoms after withdrawal of dopaminergic medication may endanger the patient by inducing severe "off" state motor phenomena...
November 8, 2016: BMC Neurology
https://www.readbyqxmd.com/read/27743838/deep-brain-stimulation-in-rare-inherited-dystonias
#16
Isabelle Beaulieu-Boire, Camila C Aquino, Alfonso Fasano, Yu-Yan Poon, Melanie Fallis, Antony E Lang, Mojgan Hodaie, Suneil K Kalia, Andres Lozano, Elena Moro
BACKGROUND: Rare causes of inherited movement disorders often present with a debilitating phenotype of dystonia, sometimes combined with parkinsonism and other neurological signs. Since these disorders are often resistant to medications, DBS may be considered as a possible treatment. METHODS: Patients with identified genetic diseases (ataxia-telangiectasia, chorea-achantocytosis, dopa-responsive dystonia, congenital nemaline myopathy, methylmalonic aciduria, neuronal ceroid lipofuscinosis, spinocerebellar ataxia types 2 and 3, Wilson's disease, Woodhouse-Sakati syndrome, methylmalonic aciduria, and X trisomy) and disabling dystonia underwent bilateral GPi DBS (bilateral thalamic Vim nucleus in 1 case)...
November 2016: Brain Stimulation
https://www.readbyqxmd.com/read/27740598/rescue-procedures-after-suboptimal-deep-brain-stimulation-outcomes-in-common-movement-disorders
#17
REVIEW
Adam M Nagy, Christopher M Tolleson
Deep brain stimulation (DBS) is a unique, functional neurosurgical therapy indicated for medication refractory movement disorders as well as some psychiatric diseases. Multicontact electrodes are placed in "deep" structures within the brain with targets varying depending on the surgical indication. An implanted programmable pulse generator supplies the electrodes with a chronic, high frequency electrical current that clinically mimics the effects of ablative lesioning techniques. DBS's efficacy has been well established for its movement disorder indications (Parkinson's disease, essential tremor, and dystonia)...
October 8, 2016: Brain Sciences
https://www.readbyqxmd.com/read/27725721/time-course-of-coherence-in-the-human-basal-ganglia-during-voluntary-movements
#18
Omid Talakoub, Bogdan Neagu, Kaviraja Udupa, Eric Tsang, Robert Chen, Milos R Popovic, Willy Wong
We are interested in characterizing how brain networks interact and communicate with each other during voluntary movements. We recorded electrical activities from the globus pallidus pars interna (GPi), subthalamic nucleus (STN) and the motor cortex during voluntary wrist movements. Seven patients with dystonia and six patients with Parkinson's disease underwent bilateral deep brain stimulation (DBS) electrode placement. Local field potentials from the DBS electrodes and scalp EEG from the electrodes placed over the motor cortices were recorded while the patients performed externally triggered and self-initiated movements...
October 11, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27711133/developing-a-deep-brain-stimulation-neuromodulation-network-for-parkinson-disease-essential-tremor-and-dystonia-report-of-a-quality-improvement-project
#19
Richard B Dewey, Padraig E O'Suilleabhain, Manjit Sanghera, Neepa Patel, Pravin Khemani, Laura H Lacritz, Shilpa Chitnis, Louis A Whitworth, Richard B Dewey
OBJECTIVE: To develop a process to improve patient outcomes from deep brain stimulation (DBS) surgery for Parkinson disease (PD), essential tremor (ET), and dystonia. METHODS: We employed standard quality improvement methodology using the Plan-Do-Study-Act process to improve patient selection, surgical DBS lead implantation, postoperative programming, and ongoing assessment of patient outcomes. RESULTS: The result of this quality improvement process was the development of a neuromodulation network...
2016: PloS One
https://www.readbyqxmd.com/read/27707656/the-international-classification-of-functioning-icf-to-evaluate-deep-brain-stimulation-neuromodulation-in-childhood-dystonia-hyperkinesia-informs-future-clinical-research-priorities-in-a-multidisciplinary-model-of-care
#20
Hortensia Gimeno, Jean-Pierre Lin
The multidisciplinary team (MDT) approach illustrates how motor classification systems, assessments and outcome measures currently available have been applied to a national cohort of children and young people with dystonia and other hyperkinetic movement disorders (HMD) particularly with a focus on dyskinetic cerebral palsy (CP). The paper is divided in 3 sections. Firstly, we describe the service model adopted by the Complex Motor Disorders Service (CMDS) at Evelina London Children's Hospital and King's College Hospital (ELCH-KCH) for deep brain stimulation...
September 8, 2016: European Journal of Paediatric Neurology: EJPN
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