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Neurology 2019 Apr 19. Epub 2019 Apr 19.

From the Section of Neurology (H.A.-N., F.J.J.-J.), Hospital Universitario del Sureste, Arganda del Rey, Madrid; and University Institute of Molecular Pathology Biomarkers (E.G.-M., J.A.G.A), UNEx, ARADyAL Instituto de Salud Carlos III, Cáceres, Spain.

Objective: This review focuses on the possible association between restless legs syndrome (RLS) and movement disorders, including Parkinson disease (PD), other parkinsonian syndromes, essential tremor, choreic and dystonic syndromes, Tourette syndrome, and heredodegenerative ataxias.

Methods: Review of PubMed from 1966 to September 2018 and identification of references of interest for the topic. A meta-analysis of eligible studies on the frequency of RLS in patients with PD and controls using Meta-DiSc1. Read More

Arq Neuropsiquiatr 2019 Mar;77(3):174-178

Universidade de Brasília, Departamento de Ciências Fisiológicas, Instituto de Biologia, Brasília DF, Brasil.

Background: Transcranial direct current stimulation (tDCS) has been investigated in movement disorders, making it a therapeutic alternative in clinical settings. However, there is still no consensus on the most appropriate treatment protocols in most cases, and the presence of deep brain stimulation (DBS) electrodes has been regarded as a contraindication to the procedure. We recently studied the effects of cerebellar tDCS on a female patient already undergoing subthalamic nucleus deep brain stimulation (STN-DBS) for generalized dystonia. Read More

Parkinsonism Relat Disord 2019 Mar 23. Epub 2019 Mar 23.

Department of Neurological Sciences, University of Nebraska Medical Center, Omaha, NE, 68198, United States. Electronic address:

Pediatric Movement Disorders encompass a very large and complex group of diseases, among which Tremor is one of the least studied. Evaluation of tremors in kids carries significant challenges, in particular the fact that many tremor etiologies have other associated movement disorders that make tremor identification more difficult. Also, it is sometimes difficult to differentiate tremors from other shaking disorders. Read More

Clinics (Sao Paulo) 2019 04 1;74:e776. Epub 2019 Apr 1.

Setor de Transtornos do Movimento, Departamento de Neurologia, Escola Paulista de Medicina, Universidade Federal de Sao Paulo (UNIFESP), Sao Paulo, SP, BR.

Objectives: To compare signs and symptoms of dysphagia in individuals with cervical dystonia (CD) before and after application of botulinum toxin (BTX).

Methods: A prospective study was conducted with 20 patients diagnosed with CD with indications for BTX application. We selected 18 patients who met the study inclusion criteria. Read More

World Neurosurg 2019 Mar 27. Epub 2019 Mar 27.

Department of Neurosurgery.

Background: Stereotactic ventro-oral (Vo) thalamotomy has been performed in cases of focal task-specific dystonia, including writer's cramp, with excellent outcomes. However, no reports have revealed the outcome of Vo thalamotomy in a patient with a contralateral cerebral lesion. Herein, we describe a patient with left hand writer's cramp with an old lesion in the left hemisphere and transient gait disturbance after right Vo thalamotomy. Read More

Mov Disord 2019 Mar 28. Epub 2019 Mar 28.

Kids Neuroscience Centre, The Kids Research Institute at the Children's Hospital at Westmead, Brain and Mind Centre, Faculty of Medicine and Health, University of Sydney, Westmead, NSW, Australia.

Movement disorders differ in children to adults. First, neurodevelopmental movement disorders such as tics and stereotypies are more prevalent than parkinsonism, and second, there is a genomic revolution which is now explaining many early-onset dystonic syndromes. We outline an approach to children with movement disorders starting with defining the movement phenomenology, determining the level of functional impairment due to abnormal movements, and screening for comorbid psychiatric conditions and cognitive impairments which often contribute more to disability than the movements themselves. Read More

Pediatr Phys Ther 2019 04;31(2):148

Cindy Miles & Associates Whitehall, Pennsylvania.

Laryngoscope 2019 Mar 19. Epub 2019 Mar 19.

Department of Neurology, Jose R. Reyes Memorial Medical Center, Manila, Philippines.

Objectives: To systematically characterize and describe voice and swallowing manifestations in patients with X-linked dystonia parkinsonism (XDP) and correlate with quality-of-life (QOL) measures.

Methods: Thirty-four patients with XDP with communication and swallowing difficulties underwent neurological examination, head and neck examination, nasopharyngoscopy, QOL surveys (Swallowing Quality of Life questionnaire [SWAL-QOL] and Voice Handicap Index [VHI]), and functional endoscopic evaluation of swallowing (FEES) to assess the extent of dysfunction.

Results: All patients showed high rates of lingual, oromandibular, and laryngeal dysfunction, as well as severe QOL changes in swallowing and communication ability. Read More

Medicine (Baltimore) 2019 Mar;98(11):e14794

Department of Pediatric Orthopaedics, Shenzhen Children's Hospital, Shenzhen.

Congenital muscular torticollis (CMT) is a common musculoskeletal abnormality in children, which has been characterized by unclarified pathological changes in the sternocleidomastoid muscle (SCM) and various hypothetical etiologies. There are 2 main hypothetical etiologies for CMT in the literature: 1 infers that CMT may represent the sequela of an intrauterine or perinatal compartment syndrome, and the other regard CMT as a maldevelopment of the fetal SCM.To better understand the etiopathogenesis of CMT, we screened the necks of 1-day-old newborns that may potentially have CMT for evidence of SCM trauma or tumor. Read More

Brain 2019 Mar 8. Epub 2019 Mar 8.

Julius-Maximilians-University Würzburg, Department of Neurology, Germany.

Deep brain stimulation of the internal globus pallidus is a highly effective and established therapy for primary generalized and cervical dystonia, but therapeutic success is compromised by a non-responder rate of up to 25%, even in carefully-selected groups. Variability in electrode placement and inappropriate stimulation settings may account for a large proportion of this outcome variability. Here, we present probabilistic mapping data on a large cohort of patients collected from several European centres to resolve the optimal stimulation volume within the pallidal region. Read More

Eur J Paediatr Neurol 2019 Feb 21. Epub 2019 Feb 21.

Complex Motor Disorder Service, Evelina London Children's Hospital, Guy's and St Thomas' NHS Foundation Trust, Floor 2 Beckett House, Lambeth Palace Road, London, SE1 7EU, United Kingdom.

Aim: To examine the impact of deep brain stimulation (DBS) on gross motor function in children with dystonic movement disorders.

Method: Prospective audit involving children implanted 2007-2015, followed for up to two years. Outcomes were evaluated across aetiological sub-groups (inherited, acquired, idiopathic) using the GMFM-88 and BFMDRS movement scale (BFM-M). Read More

Neurol Genet 2019 Feb 4;5(1):e307. Epub 2019 Feb 4.

Medical Research (Level 4) (V.A., B.A.C., G.V.H., H.H., A.S.-N., J.K.C., E.L.B., A.H.C.), University of Exeter Medical School, RILD Wellcome Wolfson Centre, Royal Devon & Exeter NHS Foundation Trust, United Kingdom; Reta Lila Weston Institute of Neurological Studies (V.A., T.T.W.), UCL Institute of Neurology, London, United Kingdom; Department of Neurology (T.I.), Government Medical College, Thiruvananthapuram, Kerala, India; Department of Anatomy and Microbiology (R.S.), Institute of Medical Sciences, Banaras Hindu University, Varanasi, Uttar Pradesh, India; Clinical Neuroscience (C.P.), Royal Free Campus, UCL Institute of Neurology, London, United Kingdom; Institute of Psychological Medicine and Clinical Neurosciences (K.P.), Cardiff University, Cardiff, United Kingdom; Taub Institute for Research on Alzheimer's Disease and the Aging Brain (L.N.C.), Department of Pathology and Cell Biology, Columbia University Medical Center, New York, NY; Institute of Biomedical and Clinical Science (R.C., H.L.A., M.W.), University of Exeter Medical School, United Kingdom; and Departments of Neurology and Chronic Disease Epidemiology and Center for Neuroepidemiology and Clinical Neurological Research (E.D.L.), Yale School of Medicine and Yale School of Public Health, Yale University, New Haven, CT.

Objective: To elucidate the genetic cause of a large 5 generation South Indian family with multiple individuals with predominantly an upper limb postural tremor and posturing in keeping with another form of tremor, namely, dystonic tremor.

Methods: Whole-genome single nucleotide polymorphism (SNP) microarray analysis was undertaken to look for copy number variants in the affected individuals.

Results: Whole-genome SNP microarray studies identified a tandem duplicated genomic segment of chromosome 15q24 present in all affected family members. Read More

Mov Disord 2019 Apr 6;34(4):555-563. Epub 2019 Mar 6.

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

Background: Task-specific focal dystonias selectively affect movements during the production of highly learned and complex motor behaviors. Manifestation of some task-specific focal dystonias, such as musician's dystonia, has been associated with excessive practice and overuse, whereas the etiology of others remains largely unknown.

Objectives: In this study, we aimed to examine the neural correlates of task-specific dystonias in order to determine their disorder-specific pathophysiological traits. Read More

Mov Disord Clin Pract 2019 Feb 9;6(2):155-159. Epub 2019 Jan 9.

Department of Neurology and Neurosurgery McGill University Montreal Canada.

Objectives: To identify the prevalence of dystonia in a RNA Polymerase III (POLR3)-related leukodystrophy patient cohort and to further characterize their dystonic features.

Background: POLR3-related leukodystrophy is a hypomyelinating leukodystrophy characterized by neurological and non-neurological features. Dystonia remains a challenging and under-recognized feature. Read More

Tremor Other Hyperkinet Mov (N Y) 2019 21;9:611. Epub 2019 Feb 21.

Department of Neurology, Seoul National University Hospital, Seoul, KR.

Eur J Paediatr Neurol 2019 Feb 14. Epub 2019 Feb 14.

First Department of Pediatrics, Agia Sofia Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece. Electronic address:

Objective: Non-progressive genetic disorders may present with motor dysfunction resembling cerebral palsy (CP). Such patients are often characterized as CP mimics. The purpose of this work was to delineate the clinical manifestations and molecular findings of CP mimic patients, with the ultimate goal to offer specific disease-modifying therapy and genetic counseling. Read More

Tremor Other Hyperkinet Mov (N Y) 2019 4;9:596. Epub 2019 Feb 4.

Ribeirão Preto School of Medicine, University of São Paulo, Ribeirão Preto, BR.

Background: Idiopathic focal dystonia is a motor syndrome associated with dysfunction of basal ganglia circuits. Observations have suggested that many other non-motor symptoms may also be part of the clinical picture. The aim was to assess the prevalence and correlation of non-motor symptoms in patients with common idiopathic focal or segmental dystonia. Read More

Parkinsonism Relat Disord 2019 Feb 13. Epub 2019 Feb 13.

Gardner Family Center for Parkinson's Disease and Movement Disorders, Department of Neurology, University of Cincinnati, Cincinnati, OH, USA. Electronic address:

Introduction: Functional dystonia (FD) is a disabling movement disorder with limited therapeutic options. We aimed to examine the efficacy and safety of chemodenervation with OnabotulinumtoxinA (BoNT) versus placebo prior to cognitive behavioral therapy (CBT) in FD patients.

Methods: FD patients with a Psychogenic Movement Disorders Rating Scale (PMDRS) score ≥ 10 and persistent dystonic posturing for ≥ 1 year were randomized to BoNT or placebo injections prior to 12 weekly individualized 1-h CBT sessions. Read More

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

Nat Rev Neurol 2019 Apr;15(4):224-233

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

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

Tremor Other Hyperkinet Mov (N Y) 2018 9;8:559. Epub 2019 Jan 9.

Department of Neurology, Laboratory of Neurogenetics, University of Thessaly, University Hospital of Larissa, Larissa, GR.

Background: Dystonia is a movement disorder with high heterogeneity regarding phenotypic appearance and etiology that occurs in both sporadic and familial forms. The etiology of the disease remains unknown. However, there is increasing evidence suggesting that a small number of gene alterations may lead to dystonia. Read More

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

Cochrane Database Syst Rev 2019 Jan 10;1:CD012405. Epub 2019 Jan 10.

Laboratório de Farmacologia Clínica e Terapêutica, Faculdade de Medicina de Lisboa, Avenida Professor Egas Moniz, Lisboa, Portugal, 1649-028.

Background: Dystonia is a painful and disabling disorder, characterised by painful, involuntary posturing of the affected body region(s). Deep brain stimulation is an intervention typically reserved for severe and drug-refractory cases, although uncertainty exists regarding its efficacy, safety, and tolerability.

Objectives: To compare the efficacy, safety, and tolerability of deep brain stimulation (DBS) versus placebo, sham intervention, or best medical care, including botulinum toxin and resective or lesional surgery, in adults with dystonia. Read More

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

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

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

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

Hum Mol Genet 2019 Apr;28(8):1343-1356

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

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

Hum Brain Mapp 2019 Apr 20;40(6):1738-1749. 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

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

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

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

Br J Neurosurg 2018 Dec 11;32(6):661-662. Epub 2018 Dec 11.

a Beijing Institute of Function Neurosurgery , Xuanwu Hospital, Capital Medical University , Xicheng , Beijing , China.

We present the effectiveness of interleaving programming in pallidal deep brain stimulation in a patient with Meige syndrome. This patient's symptoms were initially inadequately relieved by conventional programming methods. Then, we switched to the interleaving programming strategy, which produced an individual electrical density and improved her symptoms significantly. Read More

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

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

Tidsskr Nor Laegeforen 2018 11 26;138(19). Epub 2018 Nov 26.

Bakgrunn: Doparesponsiv dystoni er en gruppe sykdommer som gir endrede nivåer av nevrotransmittere. Dette kan behandles med god effekt. Økt innsikt i patofysiologiske årsaksforhold har bedret forståelsen av sykdommene. Read More

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

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

World Neurosurg 2019 Mar 24;123:e211-e217. Epub 2018 Nov 24.

Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, Beijing, China; Department of Functional Neurosurgery, Beijing Neurosurgical Institute, Capital Medical University, Beijing, China; Beijing Key Laboratory of Neurostimulation, Beijing, China. Electronic address:

Objective: To compare the efficacy and side effects of bilateral globus pallidus internus (GPi) and subthalamic nucleus (STN) deep brain stimulation (DBS) in the same patient with primary dystonia.

Methods: Patients with primary dystonia from the department of functional neurosurgery in Beijing Tiantan Hospital were recruited for the study. Four electrodes were bilaterally implanted in the GPi and STN. Read More

World Neurosurg 2019 Feb 10;122:e940-e946. Epub 2018 Nov 10.

Department of Neurosurgery, Vanderbilt University Medical Center School, Nashville, Tennessee, USA. Electronic address:

Background: Cervical dystonia is a disabling medical condition that drastically decreases quality of life. Surgical treatment consists of peripheral nerve denervation procedures with or without myectomies or deep brain stimulation (DBS). The current objective was to compare the efficacy of peripheral denervation versus DBS in improving the severity of cervical dystonia through a systematic review and meta-analysis. Read More

World Neurosurg 2019 Feb 10;122:e933-e939. Epub 2018 Nov 10.

Department of Functional Neurosurgery, Xuanwu Hospital, Capital Medical University, Beijing, China. Electronic address:

Background: Myoclonic dystonia syndrome (MDS) is a rare inherited movement disorder characterized by the coexistence of myoclonic jerks and dystonia. Deep brain stimulation (DBS) is a promising treatment for patients with MDS that targets the globus pallidus internus or ventral intermediate nucleus (Vim) of the thalamus. However, there are few studies regarding the long-term effects of Vim DBS in patients with MDS and even fewer in those without gene mutations. Read More

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

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

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.

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

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

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