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https://www.readbyqxmd.com/read/28917954/-striatal-toe-sign-false-positive-extensor-plantar-response-in-dystonia
#1
Debabrata Ghosh
No abstract text is available yet for this article.
September 13, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28910989/dystonia
#2
Eduardo De Pablo-Fernandez, Thomas T Warner
Introduction: Dystonia is a clinically heterogeneous group of hyperkinetic movement disorders. Recent advances have provided a better understanding of these conditions with significant clinical impact. Sources of data: Peer reviewed journals and reviews. PubMed.gov. Areas of agreement: A recent consensus classification, including the assessment of phenomenology and identification of the dystonia syndromes, has provided a helpful tool for the clinical assessment...
September 1, 2017: British Medical Bulletin
https://www.readbyqxmd.com/read/28906342/deep-brain-stimulation-for-monogenic-dystonia
#3
Bhooma R Aravamuthan, Jeff L Waugh, Scellig S Stone
PURPOSE OF REVIEW: Deep brain stimulation (DBS) has recently emerged as an important management option in children with medically refractory dystonia. DBS is most commonly used, best studied, and thought to be most efficacious for a select group of childhood or adolescent onset monogenic dystonias (designated with a standard 'DYT' prefix). We review how to clinically recognize these types of dystonia and the relative efficacy of DBS for key monogenic dystonias. RECENT FINDINGS: Though used for dystonia in adults for several years, DBS has only lately been used in children...
September 12, 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28904579/dopa-responsive-dystonia-in-a-child-misdiagnosed-as-cerebral-palsy
#4
Dinkar Kulshreshtha, Pradeep K Maurya, Ajai K Singh, Anup K Thacker
Dopa-responsive dystonia also known as "Segawa's syndrome" was first described in 1976. The dystonia typically shows diurnal variations and is more marked toward the end of the day and improves in sleep. This entity is often misdiagnosed in the clinical setting, mostly due to the lack of awareness, and these patients are exposed to various treatment regimens and nonpharmacological measures. We present a boy being treated as dystonic cerebral palsy who showed significant improvement in dystonic symptoms with L-dopa therapy...
April 2017: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/28904473/surgical-interventions-for-task-specific-dystonia-writer-s-dystonia
#5
Paresh K Doshi, Raghvendra Vijay Ramdasi, Bharati Karkera, Dilraj B Kadlas
OBJECTIVES: Writer's cramp is a focal dystonia producing abnormal postures during selective motor activities. Thalamotomy or globus pallidus internus deep brain stimulation (GPi DBS) has been used as a surgical treatment in patients not responding to medical treatment. MATERIALS AND METHODS: Eight patients (all men, age 16-47 years) with refractory focal hand dystonia underwent either ventrooralis (Vo) thalamotomy (seven patients) or GPi DBS (one patient) using stereotactic techniques...
July 2017: Annals of Indian Academy of Neurology
https://www.readbyqxmd.com/read/28904470/susceptibility-weighted-imaging-torch-fire-sign-in-a-patient-with-dystonia-due-to-hypoxic-ischemic-injury
#6
Savith Kumar, Chandrasekharan Kesavadas, Bejoy Thomas
No abstract text is available yet for this article.
July 2017: Annals of Indian Academy of Neurology
https://www.readbyqxmd.com/read/28903059/cognitive-flexibility-in-neurological-disorders-cognitive-components-and-event-related-potentials
#7
REVIEW
Florian Lange, Caroline Seer, Bruno Kopp
Performance deficits on the Wisconsin Card Sorting Test (WCST) in patients with prefrontal cortex (PFC) lesions are traditionally interpreted as evidence for a role of the PFC in cognitive flexibility. However, WCST deficits do not occur exclusively after PFC lesions, but also in various neurological and psychiatric disorders. We propose a multi-component approach that can accommodate this pattern of omnipresent WCST deficits: the WCST is not a pure test of cognitive flexibility, but relies on the effective functioning of multiple dissociable cognitive components...
September 10, 2017: Neuroscience and Biobehavioral Reviews
https://www.readbyqxmd.com/read/28902876/postoperative-lead-migration-in-deep-brain-stimulation-surgery-incidence-risk-factors-and-clinical-impact
#8
Takashi Morishita, Justin D Hilliard, Michael S Okun, Dan Neal, Kelsey A Nestor, David Peace, Alden A Hozouri, Mark R Davidson, Francis J Bova, Justin M Sporrer, Genko Oyama, Kelly D Foote
INTRODUCTION: Deep brain stimulation (DBS) is an effective treatment for multiple movement disorders and shows substantial promise for the treatment of some neuropsychiatric and other disorders of brain neurocircuitry. Optimal neuroanatomical lead position is a critical determinant of clinical outcomes in DBS surgery. Lead migration, defined as an unintended post-operative displacement of the DBS lead, has been previously reported. Despite several reports, however, there have been no systematic investigations of this issue...
2017: PloS One
https://www.readbyqxmd.com/read/28902092/drugs-for-neuropathic-pain-are-promising-in-treating-feed-induced-dystonia-in-central-nervous-system-disabled-children
#9
Zi-Ye Zhao, Yu-Liang Jiang, En-Da Yu, Shou-Bin Ning
No abstract text is available yet for this article.
September 9, 2017: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/28902091/neuropathic-pain-as-potential-source-of-feed-induced-dystonia-in-children-with-severe-central-nervous-system-disorders
#10
Julie M Hauer
No abstract text is available yet for this article.
September 9, 2017: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/28901595/movement-disorders-in-genetically-confirmed-mitochondrial-disease-and-the-putative-role-of-the-cerebellum
#11
Sebastian R Schreglmann, Franz Riederer, Marian Galovic, Christos Ganos, Georg Kägi, Daniel Waldvogel, Zane Jaunmuktane, Andre Schaller, Ute Hidding, Ernst Krasemann, Lars Michels, Christian R Baumann, Kailash Bhatia, Hans H Jung
BACKGROUND: Mitochondrial disease can present as a movement disorder. Data on this entity's epidemiology, genetics, and underlying pathophysiology, however, is scarce. OBJECTIVE: The objective of this study was to describe the clinical, genetic, and volumetric imaging data from patients with mitochondrial disease who presented with movement disorders. METHODS: In this retrospective analysis of all genetically confirmed mitochondrial disease cases from three centers (n = 50), the prevalence and clinical presentation of video-documented movement disorders was assessed...
September 13, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28895081/novel-de-novo-kcnd3-mutation-in-a-japanese-patient-with-intellectual-disability-cerebellar-ataxia-myoclonus-and-dystonia
#12
Masanori Kurihara, Hiroyuki Ishiura, Takuya Sasaki, Juuri Otsuka, Toshihiro Hayashi, Yasuo Terao, Takashi Matsukawa, Jun Mitsui, Juntaro Kaneko, Kazutoshi Nishiyama, Koichiro Doi, Jun Yoshimura, Shinichi Morishita, Jun Shimizu, Shoji Tsuji
Spinocerebellar ataxia 19/22 (SCA19/22) is a rare type of autosomal dominant SCA that was previously described in 11 families. We report the case of a 30-year-old Japanese man presenting with intellectual disability, early onset cerebellar ataxia, myoclonus, and dystonia without a family history. MRI showed cerebellar atrophy, and electroencephalograms showed paroxysmal sharp waves during hyperventilation and photic stimulation. Trio whole-exome sequencing analysis of DNA samples from the patient and his parents revealed a de novo novel missense mutation (c...
September 11, 2017: Cerebellum
https://www.readbyqxmd.com/read/28894408/deep-brain-stimulation-dbs-for-movement-disorders-an-experience-in-hospital-universiti-sains-malaysia-husm-involving-12-patients
#13
Lim Liang Hooi, Diana Noma Fitzrol, Senthil Kumar Rajapathy, Tan Yew Chin, Sanihah Abdul Halim, Regunath Kandasamy, Wan Mohd Nazaruddin Wan Hassan, Badrisyah Idris, Abdul Rahman Izaini Ghani, Zamzuri Idris, John Tharakan, Sarun Nunta-Aree, Jafri Malin Abdullah
Deep brain stimulation (DBS) was first introduced in 1987 to the developed world. As a developing country Malaysia begun its movement disorder program by doing ablation therapy using the Radionics system. Hospital Universiti Sains Malaysia a rural based teaching hospital had to take into consideration both health economics and outcomes in the area that it was providing neurosurgical care for when it initiated its Deep Brain Stimulation program. Most of the patients were from the low to medium social economic groups and could not afford payment for a DBS implant...
March 2017: Malaysian Journal of Medical Sciences: MJMS
https://www.readbyqxmd.com/read/28893588/resting-state-fmri-observations-of-baseline-brain-functional-activities-and-connectivities-in-primary-blepharospasm
#14
Ming-Fei Ni, Xiao-Feng Huang, Yan-Wei Miao, Zhan-Hua Liang
Primary blepharospasm (BPS) is a focal dystonia characterized by involuntary eyelid spasms and blinking. The pathophysiology of BPS remains unclear. Several functional and structural neuroimaging studies have demonstrated abnormalities of sensorimotor structures such as the sensorimotor cortex, the basal ganglia, the thalamus and the cerebellum in BPS patients. However, some of the results of these studies were inconsistent. In addition, the relationship between the motor and sensory structures in patients with BPS still needs to be investigated...
September 8, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/28892570/dnajc12-and-dopa-responsive-non-progressive-parkinsonism
#15
Letizia Straniero, Ilaria Guella, Roberto Cilia, Laura Parkkinen, Valeria Rimoldi, Alexander Young, Rosanna Asselta, Giulia Soldà, Vesna Sossi, A Jon Stoessl, Alberto Priori, Kenya Nishioka, Nobutaka Hattori, Jordan Follett, Alex Rajput, Nenad Blau, Gianni Pezzoli, Matthew J Farrer, Stefano Goldwurm, Ali H Rajput, Stefano Duga
Biallelic DNAJC12 mutations were described in children with hyperphenylalaninemia, neurodevelopmental delay, and dystonia. We identified DNAJC12 homozygous null variants (c.187A>T;p.K63*and c.79-2A>G;p.V27Wfs*14) in two kindreds with early-onset parkinsonism. Both probands had mild intellectual disability, mild non-progressive, motor symptoms, sustained benefit from small dose of levodopa and substantial worsening of symptoms after levodopa discontinuation. Neuropathology (Proband-A) revealed no alpha-synuclein pathology and substantia nigra depigmentation with moderate cell loss DNAJC12 transcripts were reduced in both patients...
September 11, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28892136/identification-and-measurement-of-dystonia-in-cerebral-palsy
#16
Frédéric Supiot
No abstract text is available yet for this article.
September 11, 2017: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/28891721/the-regions-on-the-light-chain-of-botulinum-neurotoxin-type-a-recognized-by-t-cells-from-toxin-treated-cervical-dystonia-patients-the-complete-human-t-cell-recognition-map-of-the-toxin-molecule
#17
Minako Oshima, Philip Deitiker, Joseph Jankovic, M Zouhair Atassi
We have recently mapped the in vitro proliferative responses of T cells from botulinum neurotoxin type A (BoNT/A)-treated cervical dystonia (CD) patients with overlapping peptides encompassing BoNT/A heavy chain (residues 449-1296). In the present study, we determined the recognition profiles, by peripheral blood lymphocytes (PBL) from the same set of patients, of BoNT/A light (L) chain (residues 1-453) by using 32 synthetic overlapping peptides that encompassed the entire L chain. Profiles of the T-cell responses (expressed in stimulation index, SI; Z score based on transformed SI) to the peptides varied among the patients...
September 11, 2017: Immunological Investigations
https://www.readbyqxmd.com/read/28888929/longitudinal-studies-of-botulinum-toxin-in-cervical-dystonia-why-do-patients-discontinue-therapy
#18
H A Jinnah, Cynthia L Comella, Joel Perlmutter, Codrin Lungu, Mark Hallett
BACKGROUND: Numerous studies have established botulinum toxin (BoNT) to be safe and effective for the treatment of cervical dystonia (CD). Despite its well-documented efficacy, there has been growing awareness that a significant proportion of CD patients discontinue therapy. The reasons for discontinuation are only partly understood. METHODS: This summary describes longitudinal studies that provided information regarding the proportions of patients discontinuing BoNT therapy, and the reasons for discontinuing therapy...
September 6, 2017: Toxicon: Official Journal of the International Society on Toxinology
https://www.readbyqxmd.com/read/28888928/an-update-on-new-and-unique-uses-of-botulinum-toxin-in-movement-disorders
#19
Joseph Jankovic
The therapeutic applications of botulinum toxin (BoNT) have grown manifold since its initial approval in 1989 by the US Food and Drug Administration (FDA) for the treatment of strabismus, blepharospasm, and other facial spasms. Although it is the most potent biologic toxin known to man, long-term studies have established its safety in the treatment of a variety of neurologic and non-neurologic disorders. This review focuses on some novel and uncommon uses of BoNT in the treatment of movement disorders, such as oromandibular dystonia, including bruxism, anterocollis, camptocormia, tremor, tics, tardive and levodopa-induced dyskinesia, and restless legs syndrome...
September 6, 2017: Toxicon: Official Journal of the International Society on Toxinology
https://www.readbyqxmd.com/read/28887904/thirty-first-annual-symposium-on-etiology-pathogenesis-and-treatment-of-parkinson-disease-and-other-movement-disorders-presented-by-the-parkinson-study-group-huntington-study-group-dystonia-study-group-tourette-syndrome-study-group-cooperative-ataxia-group
#20
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