7,906 results match your criteria Writer's Cramp


Botulinum toxin for the treatment of tremor.

Parkinsonism Relat Disord 2019 Jan 26. Epub 2019 Jan 26.

Parkinson's Disease Center and Movement Disorders Clinic, Department of Neurology, Baylor College of Medicine, Houston, TX, USA.

Tremor is a key clinical feature of several common neurological disorders. Adequate management of tremor has been an unmet need in clinical practice. Most of the anti-tremor medications have limited efficacy and are associated with undesirable adverse effects, especially in elderly patients. Read More

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http://dx.doi.org/10.1016/j.parkreldis.2019.01.023DOI Listing
January 2019
1 Read

The role of sensory information in the pathophysiology of focal dystonias.

Nat Rev Neurol 2019 Jan 30. Epub 2019 Jan 30.

IRCCS Neuromed, Pozzilli, Italy.

Over the past few decades, abnormalities in sensory functions, such as tactile, proprioceptive and nociceptive processing, have been increasingly recognized in patients with focal dystonias. In this Review, we ask whether sensory system abnormalities are specific to particular types of dystonia, whether a causal link exists between sensory alterations and dystonic motor activity and how mechanisms underlying the sensory abnormalities fit in with the proposed 'network model' of dystonia. We suggest that alterations in the various sensory modalities participate at three different levels in the pathophysiological cascade that leads to dystonia: a background level that predisposes individuals to dystonia, a disease-related level that is evident only when dystonia becomes manifest and a causative level that triggers dystonia. Read More

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http://dx.doi.org/10.1038/s41582-019-0137-9DOI Listing
January 2019

Dystonic crises in dopa-responsive dystonia induced by energy drinks.

Pract Neurol 2019 Jan 30. Epub 2019 Jan 30.

Alfred Hospital, Melbourne, Victoria, Australia.

We present an interesting case of recurrent dystonic crises in dopa-responsive dystonia (DRD) likely induced by excessive consumption of aspartame-containing products, in particular sugar-free energy drinks. This has a strong practical value as acute presentations to the emergency department can be avoided in these susceptible individuals. Usual medical and dietary advice in the treatment of DRD would include the avoidance of high-dose phenylalanine-containing products, and to this we would advocate the avoidance of high-dose aspartame-containing products. Read More

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http://dx.doi.org/10.1136/practneurol-2018-001900DOI Listing
January 2019

How Do I Evaluate and Inject for Writer's Cramp?

Authors:
Santiago Catania

Mov Disord Clin Pract 2018 Nov-Dec;5(6):663. Epub 2018 Nov 8.

Department of Clinical Neurophysiology The National Hospital for Neurology and Neurosurgery London United Kingdom.

Writer's cramp is a disabling focal dystonia, often accompanied by tremor, for which botulinum toxin injections are now the therapy of choice. However, the success of this treatment relies on the correct clinical selection of muscles responsible for the dystonic movements and the subsequent accurate administration of botulinum toxin into what are often very small and difficult to palpate muscles. In order to obtain the best possible outcomes, and to minimize side effects, it is necessary to use guidance from ultrasound or electromyography (EMG). Read More

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http://dx.doi.org/10.1002/mdc3.12691DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6277369PMC
November 2018
2 Reads

Central Effects of Botulinum Neurotoxin-Evidence from Human Studies.

Toxins (Basel) 2019 Jan 6;11(1). Epub 2019 Jan 6.

Department of Neurology and Clinical Neurophysiology, Augsburg University, Stenglinstrasse 2, D-86156 Augsburg, Germany.

For more than three decades, Botulinum neurotoxin (BoNT) has been used to treat a variety of clinical conditions such as spastic or dystonic disorders by inducing a temporary paralysis of the injected muscle as the desired clinical effect. BoNT is known to primarily act at the neuromuscular junction resulting in a biochemical denervation of the treated muscle. However, recent evidence suggests that BoNT's pharmacological properties may not only be limited to local muscular denervation at the injection site but may also include additional central effects. Read More

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http://www.mdpi.com/2072-6651/11/1/21
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http://dx.doi.org/10.3390/toxins11010021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6356587PMC
January 2019
4 Reads

"Spooning": A Subtle Sign of Limb Dystonia.

Tremor Other Hyperkinet Mov (N Y) 2018 3;8:607. Epub 2018 Dec 3.

Department of Neurology, Yale School of Medicine, Yale University, New Haven, CT, USA.

Background: The diagnosis of dystonia can be clinically challenging due to its heterogeneous presentation; essential tremor (ET) is a more common neurological disorder, but may be mimicked by other movement disorders, including dystonia, leading to misdiagnosis.

Phenomenology Shown: In three patients with hand tremor, two with prior diagnoses of ET, we present examples of "spooning" of the hands, characterized by wrist flexion and metacarpophalangeal hyperextension.

Educational Value: Subtle dystonic features such as "spooning" may be present during the evaluation of patients with tremor and aid in the diagnosis of dystonia. Read More

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http://dx.doi.org/10.7916/D8B00NRVDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6312906PMC
December 2018
1 Read

Botulinum neurotoxin a therapy efficacy and safety for oromandibular dystonia: a meta-analysis.

J Neural Transm (Vienna) 2019 Feb 2;126(2):141-148. Epub 2019 Jan 2.

Movement Disorders Section, Department of Neurology, Hannover Medical School, Hannover, Germany.

Oromandibular dystonia (OMD) is a focal dystonia involving the mouth, jaw, and tongue. Botulinum neurotoxin (BoNT) therapy might be one form of treatment in OMD. Systematic pooling of BoNT studies in OMD remains wanting, as the derived data could provide useful information in regard to efficacy and safety issues. Read More

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http://dx.doi.org/10.1007/s00702-018-1960-7DOI Listing
February 2019
2 Reads

Sine causa tetraparesis: A pilot study on its possible relationship with interferon signature analysis and Aicardi Goutières syndrome related genes analysis.

Medicine (Baltimore) 2018 Dec;97(52):e13893

Department of Clinical and Experimental Sciences, University of Brescia.

Tetraparesis is usually due to cerebral palsy (CP), inborn errors of metabolism, neurogenetic disorders and spinal cord lesions. However, literature data reported that about 10% of children with tetraparesis show a negative/non-specific neuroradiological findings without a specific etiological cause. Aicardi Goutières Syndrome (AGS) is a genetic encephalopathy that may cause tetraparesis. Read More

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http://dx.doi.org/10.1097/MD.0000000000013893DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6314769PMC
December 2018
3 Reads

Loss of the dystonia gene Thap1 leads to transcriptional deficits that converge on common pathogenic pathways in dystonic syndromes.

Hum Mol Genet 2018 Dec 26. Epub 2018 Dec 26.

Davee Department of Neurology.

Dystonia is a movement disorder characterized by involuntary and repetitive co-contractions of agonist and antagonist muscles. Dystonia 6 (DYT6) is an autosomal dominant dystonia caused by loss of function mutations in the zinc finger transcription factor THAP1. We have generated Thap1 knock-out mice with a view to understanding its transcriptional role. Read More

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http://dx.doi.org/10.1093/hmg/ddy433DOI Listing
December 2018

Postictal clinical and electroencephalographic activity following intracranially recorded bilateral tonic-clonic seizures.

Epilepsia 2019 Jan 21;60(1):74-84. Epub 2018 Dec 21.

Department of Neurology, Columbia University Medical Center, New York, New York.

Objective: The dynamics of the postictal period, which may demonstrate such dramatic clinical phenomena as focal neurological deficits, prolonged coma and immobility, and even sudden death, are poorly understood. We sought to classify and characterize postictal phases of bilateral tonic-clonic seizures based on electroencephalographic (EEG) criteria and associated clinical features.

Methods: We performed a detailed electroclinical evaluation of the postictal period in a series of 31 bilateral tonic-clonic seizures in 16 patients undergoing epilepsy surgery evaluations for focal pharmacoresistant epilepsy with intracranial electrodes and time-locked video. Read More

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http://dx.doi.org/10.1111/epi.14621DOI Listing
January 2019
1 Read

Distinct roles of brain activity and somatotopic representation in pathophysiology of focal dystonia.

Hum Brain Mapp 2018 Dec 20. Epub 2018 Dec 20.

Department of Advanced Neuroimaging, Integrative Brain Imaging Center (IBIC), National Center of Neurology and Psychiatry, Tokyo, Japan.

Two main neural mechanisms including loss of cortical inhibition and maladaptive plasticity have been thought to be involved in the pathophysiology of focal task-specific dystonia. Such loss of inhibition and maladaptive plasticity likely correspond to cortical overactivity and disorganized somatotopy, respectively. However, the most plausible mechanism of focal task-specific dystonia remains unclear. Read More

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http://dx.doi.org/10.1002/hbm.24486DOI Listing
December 2018

Application of the Clinical Practice Guideline for Congenital Muscular Torticollis: A Case Report.

Pediatr Phys Ther 2019 01;31(1):E1-E5

Mary Free Bed Rehabilitation Hospital (Dr Huegel), Grand Rapids, Michigan; Department of Physical Therapy (Dr Kenyon), Grand Valley State University, Grand Rapids, Michigan.

Purpose: This case report illustrates application of the Clinical Practice Guideline for Congenital Muscular Torticollis in a pediatric outpatient facility.

Descriptions: The infant was a 2-month-old baby presenting with congenital muscular torticollis. Application of each of the 16 action statements outlined in the Clinical Practice Guideline is detailed as related to the case. Read More

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http://Insights.ovid.com/crossref?an=00001577-201901000-0002
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http://dx.doi.org/10.1097/PEP.0000000000000569DOI Listing
January 2019
5 Reads

Sensory trick efficacy in cervical dystonia is linked to processing of neck proprioception.

Parkinsonism Relat Disord 2018 Dec 5. Epub 2018 Dec 5.

Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, Queen Square, London, UK.

Background: Muscle vibration activates muscle spindles and when applied over posterior neck muscles during stance modulates global body orientation. This is characterised by a tonic forward sway response that is reportedly diminished or absent in patients with idiopathic cervical dystonia.

Objective: To investigating the impact of the sensory trick on vibration-induced postural responses. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S13538020183052
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http://dx.doi.org/10.1016/j.parkreldis.2018.11.029DOI Listing
December 2018
12 Reads

Stereotactic Lesioning of the Thalamic Vo Nucleus for the Treatment of Writer's Cramp (Focal Hand Dystonia).

Front Neurol 2018 26;9:1008. Epub 2018 Nov 26.

Department of Neurodegenerative Disorders Research, Graduate School of Medical Sciences, Institute of Biomedical Sciences, Tokushima University, Tokushima, Japan.

Writer's cramp (focal hand dystonia) is a sporadic focal dystonia that affects a specific part of the upper limb causing excessive co-contraction of antagonistic muscles. It usually presents as a task-specific dystonia, including, among others, writing of a character or playing a musical instrument. Although treatments for writer's cramp exist, medical therapy often results in unsatisfactory outcomes in patients with this type of dystonia. Read More

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http://dx.doi.org/10.3389/fneur.2018.01008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6275197PMC
November 2018
2 Reads

Reduced Frequency of Ipsilateral Express Saccades in Cervical Dystonia: Probing the Nigro-Tectal Pathway.

Tremor Other Hyperkinet Mov (N Y) 2018 16;8:592. Epub 2018 Nov 16.

School of Engineering, Trinity College Dublin, The University of Dublin, Dublin, IE.

Background: Cervical dystonia is a hyperkinetic movement disorder of unknown cause. Symptoms of cervical dystonia have been induced in animals in which the integrity of the nigro-tectal pathway is disrupted, resulting in reduced inhibition of the deep layers of the superior colliculus. This same pathway is believed to play a critical role in saccade generation, particularly visually guided, express saccades. Read More

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http://dx.doi.org/10.7916/D8864094DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6262171PMC
December 2018
1 Read

Stridor-related gray matter alterations in multiple system atrophy: A pilot study.

Parkinsonism Relat Disord 2018 Nov 17. Epub 2018 Nov 17.

Department of Biomedical and NeuroMotor Sciences, University of Bologna, Bologna, Italy; IRCCS Istituto delle Scienze Neurologiche di Bologna, Clinica Neurologica, Bologna, Italy.

Introduction: The neuroanatomical substrate of stridor associated with Multiple System Atrophy (MSA) remains unclear. We evaluated stridor-related gray matter (GM) changes in MSA.

Methods: 36 MSA patients underwent standardized nocturnal video-polysomnography and brain MRI. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S13538020183051
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http://dx.doi.org/10.1016/j.parkreldis.2018.11.018DOI Listing
November 2018
9 Reads

Functional links of obsessive, dysmorphic, hypochondriac, and eating-disorders related mental intrusions.

Int J Clin Health Psychol 2018 Jan-Apr;18(1):43-51. Epub 2017 Oct 16.

Research and Treatment Unit for Obsessions and Compulsions (I'TOC), Universidad de Valencia, Spain.

Unwanted mental intrusions (UMIs) are the normal variants of obsessions in Obsessive-Compulsive Disorder (OCD), preoccupations about defects in Body Dysmorphic Disorder (BDD), images about illness in Hypochondriasis (HYP), and thoughts about eating in Eating Disorders (EDs). The aim was to examine the similarities and differences in the functional links of four UMI contents, adopting a within-subject perspective. : 438 university students and community participants ( = 29. Read More

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http://dx.doi.org/10.1016/j.ijchp.2017.09.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6220904PMC
October 2017
2 Reads

The neurological phenotype of developmental motor patterns during early childhood.

Brain Behav 2019 Jan 28;9(1):e01153. Epub 2018 Nov 28.

Department of Pediatrics, Beatrix Children's Hospital, University Medical Center Groningen, Groningen, The Netherlands.

Introduction: During early childhood, typical human motor behavior reveals a gradual transition from automatic motor patterns to acquired motor skills, by the continuous interplay between nature and nurture. During the wiring and shaping of the underlying motor networks, insight into the neurological phenotype of developmental motor patterns is incomplete. In healthy, typically developing children (0-3 years of age), we therefore aimed to investigate the neurological phenotype of developmental motor patterns. Read More

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http://dx.doi.org/10.1002/brb3.1153DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6346655PMC
January 2019
8 Reads

Spatial Integration of Somatosensory Inputs during Sensory-Motor Plasticity Phenomena Is Normal in Focal Hand Dystonia.

Neural Plast 2018 10;2018:4135708. Epub 2018 Oct 10.

IRCCS Centro Neurolesi "Bonino Pulejo", Messina, Italy.

Background: Surround inhibition is a system that sharpens sensation by creating an inhibitory zone around the central core of activation. In the motor system, this mechanism probably contributes to the selection of voluntary movements, and it seems to be lost in dystonia To explore if sensory information is abnormally processed and integrated in focal hand dystonia (FHD) and if surround inhibition phenomena are operating during sensory-motor plasticity and somatosensory integration in normal humans and in patients with FHD We looked at the MEP facilitation obtained after 5 Hz repetitive paired associative stimulation of median (PAS M), ulnar (PAS U), and median + ulnar nerve (PAS MU) stimulation in 8 normal subjects and 8 FHD. We evaluated the ratio MU/(M + U) ∗ 100 and the spatial and temporal somatosensory integration recording the somatosensory evoked potentials (SEPs) evoked by a dual nerve input. Read More

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http://dx.doi.org/10.1155/2018/4135708DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6199881PMC
January 2019
2 Reads

Primary Writing Tremor.

Tremor Other Hyperkinet Mov (N Y) 2018 6;8:586. Epub 2018 Sep 6.

Division of Movement Disorders, Department of Neurology, Yale School of Medicine, Yale University, New Haven, CT, USA.

Background: Primary writing tremor (PWT) is a rare condition; tremor occurs primarily while writing rather than during other tasks.

Phenomenology Shown: We illustrate the phenomenology of PWT and point out associated subtle dystonic posturing on neurological examination.

Educational Value: PWT is a tremor disorder that shares clinical features with both dystonia and essential tremor. Read More

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http://dx.doi.org/10.7916/D8T740ZZDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6214817PMC
December 2018
1 Read

Globus Pallidum DBS for Task-Specific Dystonia in a Professional Golfer.

Tremor Other Hyperkinet Mov (N Y) 2018 9;8:487. Epub 2018 Oct 9.

Department of Neurology, University of Florida, Center for Movement Disorders and Neurorestoration, Gainesville, FL, USA.

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http://www.tremorjournal.org/index.php/tremor/article/view/4
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http://dx.doi.org/10.7916/D83X9Q9DDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6214811PMC
December 2018
8 Reads

Expression of Bax/Bcl-2, TGF-β1, and Type III Collagen Fiber in Congenital Muscular Torticollis.

Med Sci Monit 2018 Nov 3;24:7869-7874. Epub 2018 Nov 3.

Department of Pediatric Surgery, 2nd Hospital of Shandong University, Jinan, Shandong, China (mainland).

BACKGROUND This study investigated the expression of Bax/Bcl-2, TGF-β1 and type III collagen fiber in sternocleidomastoid of congenital muscular torticollis (CMT), and explored the possible mechanisms of fibrosis in sternocleidomastoid of CMT. MATERIAL AND METHODS The localization and expression of Bax, Bcl-2, TGF-β1, and type III collagen were detected in the control group and experimental group by using immunohistochemical staining method. The RT-PCR assay was used to measure the expression of TGF-β1 in the control group and experimental group. Read More

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https://www.medscimonit.com/abstract/index/idArt/909064
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http://dx.doi.org/10.12659/MSM.909064DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6231324PMC
November 2018
14 Reads

Compound heterozygous mutations in the TH gene in a Chinese family with autosomal-recessive dopa-responsive dystonia: A case report.

Medicine (Baltimore) 2018 Nov;97(44):e12870

Department of Pediatrics, Affiliated Hospital of Jining Medical University, Jining, China.

Rationale: Autosomal-recessive dopa-responsive dystonia (DRD) is a rare clinical disorder presenting as bradykinesia, dystonia, tremor and even severe encephalopathy, and caused by tyrosine hydroxylase deficiency (THD). We report a case of compound heterozygous mutations in the TH gene in a Chinese family with autosomal-recessive DRD herein.

Patient Concerns: A 16-month-old Chinese boy presented with symptoms of movement disorder and growth retardation in his infant period. Read More

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http://dx.doi.org/10.1097/MD.0000000000012870DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6221754PMC
November 2018
3 Reads

A novel therapeutic agent, sodium oxybate, improves dystonic symptoms via reduced network-wide activity.

Sci Rep 2018 Oct 31;8(1):16111. Epub 2018 Oct 31.

School of Health and Rehabilitation Sciences, Speech Pathology, The University of Queensland, Brisbane, Queensland, Australia.

Oral medications for the treatment of dystonia are not established. Currently, symptoms of focal dystonia are managed with botulinum toxin injections into the affected muscles. However, the injection effects are short-lived and not beneficial for all patients. Read More

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http://www.nature.com/articles/s41598-018-34553-x
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http://dx.doi.org/10.1038/s41598-018-34553-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6208333PMC
October 2018
6 Reads

Sleep-related hypermotor epilepsy: prevalence, impact and management strategies.

Nat Sci Sleep 2018 10;10:317-326. Epub 2018 Oct 10.

"Claudio Munari" Center for Epilepsy Surgery, Niguarda Hospital, Milan, Italy,

Sleep-related hypermotor epilepsy (SHE), previously called nocturnal frontal lobe epilepsy (NFLE), is a focal epilepsy characterized by asymmetric tonic/dystonic posturing and/or complex hyperkinetic seizures occurring mostly during sleep. SHE fulfills the definition of rare disease with an estimated minimum prevalence of 1.8/100,000 individuals, and it represents about 10% of drug-resistant surgical cases. Read More

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https://www.dovepress.com/sleep-related-hypermotor-epilepsy-
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http://dx.doi.org/10.2147/NSS.S152624DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6186898PMC
October 2018
16 Reads

Predictors of alcohol responsiveness in dystonia.

Neurology 2018 Nov 19;91(21):e2020-e2026. Epub 2018 Oct 19.

From the Institute of Neurogenetics (J. Junker, V.B., A.W., N.B.) and Department of Neurology (J. Junker, N.B.), University of Luebeck, Germany; Department of Psychology (V.B.), Centre for Innovation in Mental Health, University of Southampton, UK; Department of Neurology (B.D.B.), University of Colorado Anschutz Medical Campus, Aurora; Neurology Section (B.D.B.), Denver VA Medical Center, CO; Département de Neurologie (M.V., E.R.), Hôpital Pitié-Salpêtrière, Assistance Publique-Hopitaux de Paris; Sorbonne Universités (M.V.), Pierre Marie Curie Paris-6, Institute of Brain and Spine (ICM), Inserm U 1127, Paris, France; Department of Neurology (C.C.), Rush University Medical Center, Chicago, IL; Department of Neurology (I.A.M.), Center for Movement Disorders and Neurorestoration, University of Florida, Gainesville; Department of Neurology (J. Jankovic), Baylor College of Medicine, Houston, TX; Department of Neurology (M.S.L.), University of Tennessee Health Science Center, Memphis; Neuromed Institute (IRCCS) (A.B.), Pozzilli (IS), and Department of Neurology and Psychiatry, Sapienza University di Roma, Italy; Department of Neurology (R.B.), University of Rochester Medical Center, NY; Department of Neurology (S.G.R.), University of Maryland Medical Center, Baltimore; Department of Neurology (J.S.P.), Washington University in St. Louis, MO; and Department of Neurology and Human Genetics (H.A.J.), Emory University, Atlanta, GA.

Objective: To determine predictors of alcohol responsiveness in a large cohort of patients with dystonia.

Methods: A total of 2,159 participants with dystonia were prospectively enrolled in the cross-sectional Dystonia Coalition multicenter study. Patients with secondary, combined, or confirmed genetic dystonia (total n = 164) or unknown alcohol responsiveness (n = 737) were excluded. Read More

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http://dx.doi.org/10.1212/WNL.0000000000006551DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6260199PMC
November 2018
4 Reads

Movement disorders associated with neuronal antibodies.

Acta Neurol Scand 2019 Feb 6;139(2):106-117. Epub 2018 Nov 6.

Department of Neurology, Govind Ballabh Pant Postgraduate Institute of Medical Education and Research, New Delhi, India.

Movement disorders are one of the common clinical features of neurological disease associated with neuronal antibodies which is a group of potentially reversible disorder. They can present with hypokinetic or hyperkinetic types of involuntary movements and may have other associated neurological symptoms. The spectrum of abnormal movements associated with neuronal antibodies is widening. Read More

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http://dx.doi.org/10.1111/ane.13039DOI Listing
February 2019
1 Read

Treatment of focal dystonia involving multiple muscles with a single injection of botulinum toxin A to 1 muscle: A case report.

Medicine (Baltimore) 2018 Oct;97(42):e12785

Department of Rehabilitation Medicine, Hanyang University College of Medicine, Seoul, Korea.

Rationale: Botulinum toxin A (BTX-A) injection is effective in treating focal dystonia. However, there are no prior reports regarding the treatment of progressive focal dystonia by a single BTX-A injection that affect a distant muscle.

Patient Concerns: A 19-year-old male was referred to the rehabilitation clinic with a complaint of involuntary movement in his left big toe. Read More

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http://dx.doi.org/10.1097/MD.0000000000012785DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6211890PMC
October 2018
2 Reads

A clinical efficacy experience of Lacosamide on sleep quality in patients with Nocturnal Frontal Lobe Epilepsy (NFLE).

Acta Biomed 2018 Oct 8;89(3):397-399. Epub 2018 Oct 8.

Neurology and Neurophysiology Department of M.G. Vannini Hospital Rome.

Background: Nocturnal frontal lobe epilepsy (NFLE) is a focal epilepsy with seizures arising mainly during sleep and characterized by complex motor behavior or sustained dystonic posturing. First described in 1981, it was considered a motor disorder of sleep and was indicated as nocturnal paroxysmal dystonia (NPD). The debated on epileptic origin of this condition was demonstrated in 1990 and the term NFLE was introduced. Read More

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http://dx.doi.org/10.23750/abm.v89i3.6956DOI Listing
October 2018
1 Read

Clinical and electrographic characteristics of seizures in LGI1-antibody encephalitis.

Epilepsy Behav 2018 Nov 15;88:277-282. Epub 2018 Oct 15.

Department of Neurology, First Affiliated Hospital of Zhengzhou University, China. Electronic address:

Purpose: The purpose of this study was to analyze the clinical and electrographic characteristics of seizures in LGI1-antibody encephalitis.

Methods: The methods utilized in this study were prospective analysis of the clinical manifestations, types of seizures, electroencephalogram (EEG), adjuvant examination, treatment and prognosis of 19 cases of LGI1-antibody encephalitis diagnosed from January 2017 to February 2018 in First Affiliated Hospital of Zhengzhou University, and reviewed related literatures.

Results: The 15/19 (79%) patients were male, and the average onset age was 58 years (23-82). Read More

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https://linkinghub.elsevier.com/retrieve/pii/S15255050183051
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http://dx.doi.org/10.1016/j.yebeh.2018.08.019DOI Listing
November 2018
14 Reads

Deep brain stimulation for pediatric dystonia: a meta-analysis with individual participant data.

Dev Med Child Neurol 2019 01 15;61(1):49-56. Epub 2018 Oct 15.

Division of Neurosurgery, Department of Surgery, University of Toronto, Toronto, Canada.

Aim: We performed a meta-analysis with individual participant data of deep brain stimulation (DBS) for dystonia in children and young people.

Method: Three databases (PubMed, Embase, and Web of Science) were queried from January 1999 to August 2017 with no language restrictions to identify case studies and cohort studies reporting on pediatric patients (age ≤21y) with dystonia. The primary outcomes were changes in Burke-Fahn-Marsden (BFM) or Barry-Albright Dystonia Scale scores. Read More

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http://doi.wiley.com/10.1111/dmcn.14063
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http://dx.doi.org/10.1111/dmcn.14063DOI Listing
January 2019
27 Reads
3.510 Impact Factor

Disease progression in blepharospasm: a 5-year longitudinal study.

Eur J Neurol 2019 Feb 12;26(2):268-273. Epub 2018 Nov 12.

IRCCS Neuromed, Pozzilli, Italy.

Background And Purpose: The clinical manifestation of dystonic spasms in blepharospasm (BSP) patients may be heterogeneous. Whether the varying phenomenology of eyelid spasms becomes manifest sequentially during the course of the disease or aggregates in separate clusters according to different disease courses is still unclear. For this purpose, the clinical features in BSP patients were evaluated longitudinally over a 5-year period and also the blink reflex recovery cycle was tested in a subgroup of BSP patients. Read More

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http://doi.wiley.com/10.1111/ene.13832
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http://dx.doi.org/10.1111/ene.13832DOI Listing
February 2019
2 Reads

Polymorphic variability in the exon 19 of the RB1 gene and its flanking intronic sequences in HPV16-associated precancerous lesions in the Greek population.

J Med Microbiol 2018 Nov 10;67(11):1638-1644. Epub 2018 Oct 10.

1​Microbiology-Virology Laboratory, Department of Biochemistry and Biotechnology, School of Health Sciences, University of Thessaly, Biopolis, 41500 Larissa, Greece.

Purpose: The tumour suppressor protein RB plays a decisive role in negative control of the cell cycle, inhibiting tumour development. The present analysis investigated the prevalence of the nucleotide polymorphism A153104G, which is located at intron 18 of the RB1 gene, and investigated the impact of the polymorphic variability in the exon 19 and its flanking intronic sequences on the severity of cervical disease in HPV16-positive Greek women.

Methodology: The nucleotide polymorphism A153104G was detected by PCR-RFLP assay, while the amplicons were further subjected to cloning and sequencing. Read More

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http://www.microbiologyresearch.org/content/journal/jmm/10.1
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http://dx.doi.org/10.1099/jmm.0.000843DOI Listing
November 2018
8 Reads

A Computational Model of Deep-Brain Stimulation for Acquired Dystonia in Children.

Authors:
Terence D Sanger

Front Comput Neurosci 2018 20;12:77. Epub 2018 Sep 20.

Department of Biomedical Engineering, Biokinesiology, and Child Neurology, University of Southern California, Los Angeles, CA, United States.

The mechanism by which deep brain stimulation (DBS) improves dystonia is not understood, partly heterogeneity of the underlying disorders leads to differing effects of stimulation in different locations. Similarity between the effects of DBS and the effects of lesions has led to biophysical models of blockade or reduced transmission of involuntary activity in individual cells in the pathways responsible for dystonia. Here, we expand these theories by modeling the effect of DBS on populations of neurons. Read More

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https://www.frontiersin.org/article/10.3389/fncom.2018.00077
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http://dx.doi.org/10.3389/fncom.2018.00077DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6158364PMC
September 2018
1 Read

Aberrant cerebellar Purkinje cell activity as the cause of motor attacks in a mouse model of episodic ataxia type 2.

Dis Model Mech 2018 09 21;11(9). Epub 2018 Sep 21.

Dominick P. Purpura Department of Neuroscience, Albert Einstein College of Medicine, Bronx, NY 10461, USA

Many cerebellar-induced neurological disorders, such as ataxias and cerebellar-induced dystonias, are associated with abnormal Purkinje cell activity. In tottering mice, a well-established mouse model of episodic ataxia type 2 (EA2), cerebellar Purkinje cells are required for the initiation of motor attacks How Purkinje cells contribute to the initiation of attacks is not known, and to date there are no reports on the activity of Purkinje cells during motor attacks in the tottering mice. Here, we show that tottering Purkinje cells exhibit high-frequency burst firing during attacks, reminiscent of other mouse models of cerebellar-induced motor dysfunction. Read More

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http://dx.doi.org/10.1242/dmm.034181DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6177005PMC
September 2018
4 Reads

Impaired performance of patients with writer's cramp in complex fine motor tasks.

Clin Neurophysiol 2018 Nov 15;129(11):2392-2402. Epub 2018 Sep 15.

Technical University of Munich, Department of Sport and Health Sciences, Chair of Human Movement Science, Munich, Germany.

Objective: Writer's cramp (WC) is a task-specific focal dystonia. WC is characterized by involuntary contractions of muscles of the hand and arm during handwriting, resulting in impaired writing with exaggerated finger forces. The generalization of symptoms to other fine motor tasks is widely discussed. Read More

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http://dx.doi.org/10.1016/j.clinph.2018.09.005DOI Listing
November 2018
2 Reads

Physical Therapy Management of Congenital Muscular Torticollis: A 2018 Evidence-Based Clinical Practice Guideline From the APTA Academy of Pediatric Physical Therapy.

Pediatr Phys Ther 2018 10;30(4):240-290

Department of Rehabilitation and Movement Sciences (Dr Kaplan), Rutgers, The State University of New Jersey, Newark, New Jersey; Orthotics and Prosthetics Department (Dr Coulter), Children's Healthcare of Atlanta, Atlanta, Georgia; Division of Biokinesiology and Physical Therapy at the Herman Ostrow School of Dentistry (Dr Sargent), University of Southern California, Los Angeles, California.

Background: Congenital muscular torticollis (CMT) is a postural deformity evident shortly after birth, typically characterized by lateral flexion/side bending of the head to one side and cervical rotation/head turning to the opposite side due to unilateral shortening of the sternocleidomastoid muscle; it may be accompanied by other neurological or musculoskeletal conditions. Infants with CMT should be referred to physical therapists to treat these postural asymmetries as soon as they are identified.

Purpose: This update of the 2013 CMT clinical practice guideline (CPG) informs clinicians and families as to whom to monitor, treat, and/or refer and when and what to treat. Read More

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http://Insights.ovid.com/crossref?an=00001577-201810000-0000
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http://dx.doi.org/10.1097/PEP.0000000000000544DOI Listing
October 2018
3 Reads

Task-specificity in focal dystonia is shaped by aberrant diversity of a functional network kernel.

Mov Disord 2018 Dec 27;33(12):1918-1927. Epub 2018 Sep 27.

Department of Otolaryngology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, Massachusetts, USA.

Objectives: Task-specific focal dystonia selectively affects the motor control during skilled and highly learned behaviors. Recent data suggest the role of neural network abnormalities in the development of the pathophysiological dystonic cascade.

Methods: We used resting-state functional MRI and analytic techniques rooted in network science and graph theory to examine the formation of abnormal subnetwork of highly influential brain regions, the functional network kernel, and its influence on aberrant dystonic connectivity specific to affected body region and skilled motor behavior. Read More

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http://dx.doi.org/10.1002/mds.97DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6309584PMC
December 2018
1 Read

A rare case of hypereosinophilic syndrome presenting with unilateral proptosis and torticollis.

Indian J Ophthalmol 2018 Oct;66(10):1508-1511

Department of Oculoplasty, Sri Sankaradeva Nethralaya, Guwahati, Assam, India.

Hypereosinophilic syndrome (HES) is a spectrum of myeloproliferative disorder, which is characterized by persistent and marked blood eosinophilia and damage to multiple organs due to eosinophilic infiltration. Idiopathic HES is identified after ruling out all other causes of eosinophilia. Poor prognosis is usually associated with cardiac involvement and malignant transformation of blood cells. Read More

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http://dx.doi.org/10.4103/ijo.IJO_316_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6173005PMC
October 2018
17 Reads

Biallelic TOR1A mutations cause severe arthrogryposis: A case requiring reverse phenotyping.

Eur J Med Genet 2018 Sep 21. Epub 2018 Sep 21.

Subdivision of Pediatric Genetics, Department of Pediatrics, Faculty of Medicine, Ege University, Izmir, Turkey; Department of Medical Genetics, Faculty of Medicine, Ege University, Izmir, Turkey.

Heterozygous mutations in TOR1A gene are known to be responsible for DYT1 dystonia with incomplete penetrance. Autosomal recessive TOR1A disease is a very recently described syndrome characterized by severe arthrogryposis, developmental delay, strabismus and tremor. A 2 month-old boy with severe arthrogryposis and developmental delay was referred to our department for genetic counseling. Read More

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http://dx.doi.org/10.1016/j.ejmg.2018.09.011DOI Listing
September 2018
1 Read

Impaired white matter integrity between premotor cortex and basal ganglia in writer's cramp.

Brain Behav 2018 Oct 21;8(10):e01111. Epub 2018 Sep 21.

Department of Neurology, Klinikum rechts der Isar, Technische Universität Muenchen, Muenchen, Germany.

Introduction: Writer's cramp (WC) as a focal hand dystonia is characterized by abnormal postures of the hand during writing. Impaired inhibition and maladaptive plasticity in circuits linking the basal ganglia and sensorimotor cortices have been described. In particular, a dysfunction of lateral premotor cortices has been associated with impaired motor control in WC. Read More

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http://dx.doi.org/10.1002/brb3.1111DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6192408PMC
October 2018
2 Reads

Writer's cramp: a new dystonic feature in spinocerebellar ataxia type 3.

Acta Neurol Belg 2018 Sep 20. Epub 2018 Sep 20.

Department of Neurology, Hospital Federal dos Servidores do Estado, Rio de Janeiro, Brazil.

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http://dx.doi.org/10.1007/s13760-018-1022-9DOI Listing
September 2018

The characteristics of pallidal low-frequency and beta bursts could help implementing adaptive brain stimulation in the parkinsonian and dystonic internal globus pallidus.

Neurobiol Dis 2019 Jan 15;121:47-57. Epub 2018 Sep 15.

Department of Neurology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands; Department of Neurology, Isala Clinics, Zwolle, The Netherlands. Electronic address:

Introduction: Adaptive deep brain stimulation (aDBS) has been applied in Parkinson's disease (PD), based on the presence of brief high-amplitude beta (13-35 Hz) oscillation bursts in the subthalamic nucleus (STN), which correlate with symptom severity. Analogously, average low-frequency (LF) oscillatory power (4-12 Hz) in the internal globus pallidus (GPi) correlates with dystonic symptoms and might be a suitable physiomarker for aDBS in dystonia. Characterization of pallidal bursts could facilitate the implementation of aDBS in the GPi of PD and dystonia patients. Read More

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http://dx.doi.org/10.1016/j.nbd.2018.09.014DOI Listing
January 2019

Teaching Video NeuroImages: The signs of dystonic tremor: Tremulous "escanciador".

Neurology 2018 Sep;91(12):e1204-e1205

From the Department of Neurology (J.S.), Kingston General Hospital, Canada; Department of Neurology (D.M.-G.), Hospital Universitario Virgen del Rocío, Seville, Spain; and UC Gardner Neuroscience Institute and Gardner Family Center for Parkinson's Disease and Movement Disorders (A.Z., A.J.E.), Department of Neurology, University of Cincinnati, OH.

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http://dx.doi.org/10.1212/WNL.0000000000006215DOI Listing
September 2018
1 Read

Deep brain stimulation for childhood dystonia: current evidence and emerging practice.

Expert Rev Neurother 2018 Oct 24;18(10):773-784. Epub 2018 Sep 24.

c Division of Neurosurgery, Department of Surgery , University of Toronto , Toronto , Canada.

Introduction: Dystonia, one of the most common childhood movement disorders, is often medically refractory and can lead to profound impacts on the child and their caretakers' quality of life. Limited efficacy of pharmacological treatments has fueled enthusiasm for innovative neurosurgical approaches, notably deep brain stimulation (DBS) as a treatment for refractory dystonia. Areas covered: DBS is increasingly applied to successfully treat childhood dystonia. Read More

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http://dx.doi.org/10.1080/14737175.2018.1523721DOI Listing
October 2018
2.834 Impact Factor

Status dystonicus: a diagnosis delayed.

BMJ Case Rep 2018 Sep 12;2018. Epub 2018 Sep 12.

Acute Medicine Department, Doncaster Royal Infirmary, Doncaster, UK.

Status dystonicus, also known as the dystonic storm or dystonic crisis, is rare but may prove fatal due to respiratory and bulbar complications. In adults, the condition is rare and possibly under-reported. The lack of awareness of this condition among emergency and acute physicians may lead to an incorrect or delayed diagnosis, which should be avoided. Read More

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http://casereports.bmj.com/lookup/doi/10.1136/bcr-2018-22653
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http://dx.doi.org/10.1136/bcr-2018-226531DOI Listing
September 2018
45 Reads

Beta-propeller protein-associated neurodegeneration (BPAN) as a genetically simple model of multifaceted neuropathology resulting from defects in autophagy.

Rev Neurosci 2018 Sep 11. Epub 2018 Sep 11.

Department of Biochemistry, Yong Loo Lin School of Medicine, National University Health System, Singapore 117597, Singapore.

Autophagy is an essential and conserved cellular homeostatic process. Defects in the core and accessory components of the autophagic machinery would most severely impact terminally differentiated cells, such as neurons. The neurodevelopmental/neurodegenerative disorder β-propeller protein-associated neurodegeneration (BPAN) resulted from heterozygous or hemizygous germline mutations/pathogenic variant of the X chromosome gene WDR45, encoding WD40 repeat protein interacting with phosphoinositides 4 (WIPI4). Read More

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http://www.degruyter.com/view/j/revneuro.ahead-of-print/revn
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http://dx.doi.org/10.1515/revneuro-2018-0045DOI Listing
September 2018
4 Reads

The effect of a single botulinum toxin treatment on somatosensory processing in idiopathic isolated cervical dystonia: an observational study.

J Neurol 2018 Nov 8;265(11):2672-2683. Epub 2018 Sep 8.

Department of Physical Therapy and Rehabilitation Sciences, Faculty of Medicine and Health Sciences, University of Antwerp, Wilrijk, Belgium.

Background: Patients with idiopathic cervical dystonia (CD) experience involuntary neck muscle contractions, abnormal head position and pain accompanied by dysfunctions in somatosensory processes such as postural control, cervical sensorimotor and perception of visual verticality. First-line treatment is injection with botulinum toxin (BoNT). It remains unclear whether this affects sensorimotor processes. Read More

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http://dx.doi.org/10.1007/s00415-018-9045-yDOI Listing
November 2018
7 Reads