18,178 results match your criteria Dystonias


Oromandibular Dystonia Causing Recurrent Mandibular Open Lock in Two Adolescents Managed with Botulinum Toxin.

J Dent Child (Chic) 2019 Jan;86(1):47-52

Professor, chief and director, Orofacial Pain Program, Department of Oral Health Science, both at the University of Kentucky School of Dentistry, Lexington, KY., USA.

Mandibular open lock is a condition in which the patient is unable to close his/her mouth. This is an uncommon condition in children and adolescents that, when recurrent, can severely affect their quality of life. It can also prove to be a challenge for the clinician. Read More

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January 2019

Delineating the phenotype of autosomal-recessive HPCA mutations: Not only isolated dystonia!

Mov Disord 2019 Apr;34(4):589-592

Department of Motor Neuroscience and Movement Disorders, UCL Queen Square Institute of Neurology, London, United Kingdom.

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http://doi.wiley.com/10.1002/mds.27638
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http://dx.doi.org/10.1002/mds.27638DOI Listing
April 2019
1 Read

The Efficacy and Safety of Prochlorperazine in Patients With Acute Migraine: A Systematic Review and Meta-Analysis.

Headache 2019 Apr 16. Epub 2019 Apr 16.

Department of Emergency Medicine, Orthopedic Research Center, Faculty of Medicine, Mazandaran University of Medical Sciences, Sari, Iran.

Objective: The aim of this review was to evaluate the efficacy and safety of prochlorperazine (PCP) in patients with acute migraine headache in the emergency department (ED).

Methods: Electronic databases (Medline, Scopus, Web of Science, and Cochrane) were searched for randomized clinical trials that investigated the effect of PCP on headache relief. The outcomes were the number of patients without headache or with reduced headache severity, the number of adverse events, and the need for rescue analgesia. Read More

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http://dx.doi.org/10.1111/head.13527DOI Listing

Need to find a signature of abnormal brain oscillations in task-specific focal dystonia.

Clin Neurophysiol 2019 Apr 9. Epub 2019 Apr 9.

Danish Research Centre for Magnetic Resonance, Centre for Functional and Diagnostic Imaging and Research, Copenhagen University Hospital Hvidovre, Kettegard Allé 30, 2650 Copenhagen, Denmark.

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http://dx.doi.org/10.1016/j.clinph.2019.04.002DOI Listing

Direct comparison of oscillatory activity in the motor system of Parkinson's disease and dystonia: A review of the literature and meta-analysis.

Clin Neurophysiol 2019 Mar 15;130(6):917-924. Epub 2019 Mar 15.

Department of Neurology, University Medical Center Groningen, University of Groningen, Groningen, Netherlands; Department of Neurology, Amsterdam UMC, University of Amsterdam, Netherlands. Electronic address:

Objective: To outline the current knowledge of (sub)cortical oscillations in Parkinson's Disease (PD) and dystonia, and to quantitatively summarize the results of direct comparisons of local oscillatory power between both diseases in the resting state, without medication or stimulation, in both the low-frequency (LF, ±4-12 Hz) and beta (±13 to ∼30 Hz) range.

Methods: Eight relevant studies were included. Recordings from 127 dystonia-, and 144 PD-patient hemispheres were analyzed. Read More

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http://dx.doi.org/10.1016/j.clinph.2019.02.015DOI Listing

Immunogenicity induced by botulinum toxin injections for limb spasticity: a systematic review.

Ann Phys Rehabil Med 2019 Apr 10. Epub 2019 Apr 10.

Department of Physical and Rehabilitation Medicine, Institute of Rehabilitation, South Hospital, University Hospital Grenoble-Alpes, Grenoble, France; University Hospital Grenoble-Alpes, CNRS, LPNC, 38000 Grenoble, France.

Background: The imputability of neutralizing antibodies (NABs) in secondary non-response (SnR) to botulinum toxin (BoNT) injections for limb spasticity is still debated.

Objective: This systematic literature review aimed to determine the prevalence of NABs after BoNT injections for limb spasticity and analyze their determinants and their causal role in SnR.

Methods: We searched MEDLINE via PubMed, Cochrane and Embase databases for articles published during 1990-2018. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S18770657193004
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http://dx.doi.org/10.1016/j.rehab.2019.03.004DOI Listing
April 2019
4 Reads

Sensorimotor Control in Dystonia.

Brain Sci 2019 Apr 11;9(4). Epub 2019 Apr 11.

Dept. of Kinesiology, Michigan State University, East Lansing, MI 48824, USA.

This is an overview of the sensorimotor impairments in dystonia, a syndrome characterized by sustained or intermittent aberrant movement patterns leading to abnormal movements and/or postures with or without a tremulous component. Dystonia can affect the entire body or specific body regions and results from a plethora of etiologies, including subtle changes in gray and white matter in several brain regions. Research over the last 25 years addressing topics of sensorimotor control has shown functional sensorimotor impairments related to sensorimotor integration, timing, oculomotor and head control, as well as upper and lower limb control. Read More

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https://www.mdpi.com/2076-3425/9/4/79
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http://dx.doi.org/10.3390/brainsci9040079DOI Listing
April 2019
2 Reads

Autosomal recessive ADCY5-Related dystonia and myoclonus: Expanding the genetic spectrum of ADCY5-Related movement disorders.

Parkinsonism Relat Disord 2019 Feb 28. Epub 2019 Feb 28.

Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia; Department of Biomedical Research, King Fahad Specialist Hospital, Dammam, Saudi Arabia.

Introduction: ADCY5-related hyperkinesia encompasses a heterogeneous group of phenotypes, including paroxysmal chorea, myoclonus, and dystonia. The disease is attributed to mutations of ADCY5, which encodes an adenylate cyclase enzyme. The disease can occur in a sporadic or familial pattern. Read More

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http://dx.doi.org/10.1016/j.parkreldis.2019.02.039DOI Listing
February 2019
1 Read

A hexanucleotide repeat modifies expressivity of X-linked dystonia-parkinsonism.

Ann Neurol 2019 Apr 11. Epub 2019 Apr 11.

Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.

Objective: X-linked dystonia-parkinsonism (XDP) is a neurodegenerative movement disorder caused by a single mutation: SINE-VNTR-Alu (SVA) retrotransposon insertion in TAF1. Recently, a (CCCTCT) repeat within the SVA insertion has been reported as an age-at-onset (AAO) modifier in XDP. Here we investigate the role of this hexanucleotide repeat in modifying expressivity of XDP. Read More

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http://dx.doi.org/10.1002/ana.25488DOI Listing
April 2019
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Early Dyskinesias in Parkinson's Disease Patients With Parkin Mutation: A Primary Corticostriatal Synaptopathy?

Front Neurosci 2019 26;13:273. Epub 2019 Mar 26.

Department of Neurology, IRCCS Istituto Auxologico Italiano, Milan, Italy.

Mutations in the gene cause early-onset Parkinson's disease (PD). Despite the high proportion of still missing phenotyping data in the literature devoted to early-onset PD, studies suggest that, as compared with late-onset PD, patients show dystonia at onset and extremely dose-sensitive levodopa-induced dyskinesia (LID). What pathophysiological mechanisms underpin such early and atypical dyskinesia in patients with mutations? Though the precise mechanisms underlying dystonia and LID are still unclear, evidence suggests that hyperkinetic disorders in PD are a behavioral expression of maladaptive functional and morphological changes at corticostriatal synapses induced by long-term dopamine (DA) depletion. Read More

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http://dx.doi.org/10.3389/fnins.2019.00273DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6443894PMC
March 2019
1 Read

[Therapy of Benign Essential Blepharospasm with Botulinum Toxin].

Fortschr Neurol Psychiatr 2019 Apr 10. Epub 2019 Apr 10.

Krankenhaus der Barmherzigen Bruder Trier.

Blepharospasm is a focal dystonia and a rare disease of the brain that causes involuntary spasms of the muscles responsible for eyelid closure. The diagnosis is made clinically and in unclear cases on the basis of results of electrophysiological tests. Therapy of choice consists of local injections with botulinum toxin that have to be repeated on a regular basis. Read More

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http://dx.doi.org/10.1055/a-0677-2122DOI Listing
April 2019
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Safety of transcranial direct current stimulation in a patient with deep brain stimulation electrodes.

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

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http://www.scielo.br/scielo.php?script=sci_arttext&pid=S
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http://dx.doi.org/10.1590/0004-282X20190019DOI Listing
March 2019
2 Reads

A novel GNAL mutation in familial dystonia presenting with childhood tremor and myoclonus.

Mov Disord 2019 Apr 9. Epub 2019 Apr 9.

Tallaght University Hospital, Tallaght, Dublin 24, Ireland.

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http://dx.doi.org/10.1002/mds.27694DOI Listing
April 2019
1 Read

Network-level connectivity is a critical feature distinguishing dystonic tremor and essential tremor.

Brain 2019 Apr 8. Epub 2019 Apr 8.

Department of Neurology, College of Medicine, University of Florida, Gainesville, FL, USA.

Dystonia is a movement disorder characterized by involuntary muscle co-contractions that give rise to disabling movements and postures. A recent expert consensus labelled the incidence of tremor as a core feature of dystonia that can affect body regions both symptomatic and asymptomatic to dystonic features. We are only beginning to understand the neural network-level signatures that relate to clinical features of dystonic tremor. Read More

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http://dx.doi.org/10.1093/brain/awz085DOI Listing
April 2019
3 Reads

Blepharospasm: A genetic screening study in 132 patients.

Parkinsonism Relat Disord 2019 Apr 2. Epub 2019 Apr 2.

Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD, 20892, USA.

Introduction: Blepharospasm is a common type of focal dystonia that involves involuntary eyelid spasms and eye closure. In familial cases, an autosomal dominant pattern of inheritance is noted with reduced penetrance. Few genes have been associated with the disease including GNAL and CIZ1. Read More

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http://dx.doi.org/10.1016/j.parkreldis.2019.04.003DOI Listing
April 2019
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Maladaptive striatal plasticity and abnormal reward-learning in cervical dystonia.

Eur J Neurosci 2019 Apr 7. Epub 2019 Apr 7.

Division of Imaging Science and Technology, Medical School, University of Dundee, DD2 4BF, UK.

In monogenetic generalized forms of dystonia, in vitro neurophysiological recordings have demonstrated direct evidence for abnormal plasticity at the level of the cortico-striatal synapse. It is unclear whether similar abnormalities contribute to the pathophysiology of cervical dystonia, the most common type of focal dystonia. We investigated whether abnormal cortico-striatal synaptic plasticity contributes to abnormal reward-learning behavior in patients with focal dystonia. Read More

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http://dx.doi.org/10.1111/ejn.14414DOI Listing
April 2019
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Aromatic amino acid decarboxylase deficiency: Molecular and metabolic basis and therapeutic outlook.

Mol Genet Metab 2019 Mar 27. Epub 2019 Mar 27.

Dietmar-Hopp Metabolic Center and Centre for Pediatrics and Adolescent Medicine, University Children's Hospital, Heidelberg, Germany. Electronic address:

Aromatic-l-amino acid decarboxylase (AADC) deficiency is an ultra-rare inherited autosomal recessive disorder characterized by sharply reduced synthesis of dopamine as well as other neurotransmitters. Symptoms, including hypotonia and movement disorders (especially oculogyric crisis and dystonia) as well as autonomic dysfunction and behavioral disorders, vary extensively and typically emerge in the first months of life. However, diagnosis is difficult, requiring analysis of metabolites in cerebrospinal fluid, assessment of plasma AADC activity, and/or DNA sequence analysis, and is frequently delayed for years. Read More

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http://dx.doi.org/10.1016/j.ymgme.2019.03.009DOI Listing
March 2019
1 Read

"Spastic dystonia" or "Inability to voluntary silence EMG activity"? Time for clarifying the nomenclature.

Clin Neurophysiol 2019 Mar 27. Epub 2019 Mar 27.

Academic Neurology Unit, A. Fiorini Hospital, Terracina, LT, Italy; Department of Medical-Surgical Sciences and Biotechnologies, Sapienza University of Rome, Polo Pontino, Italy.

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http://dx.doi.org/10.1016/j.clinph.2019.03.009DOI Listing
March 2019
2 Reads

Predictive factors for long-term clinical outcomes of deep brain stimulation in the treatment of primary Meige syndrome.

J Neurosurg 2019 04 5:1-9. Epub 2019 Apr 5.

School of Medicine, Nankai University, Tianjin; and

Objective: Primary Meige syndrome is characterized by blepharospasm and orofacial-cervical dystonia. Deep brain stimulation (DBS) is recognized as an effective therapy for patients with this condition, but previous studies have focused on clinical effects. This study explored the predictors of clinical outcome in patients with Meige syndrome who underwent DBS. Read More

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http://dx.doi.org/10.3171/2019.1.JNS182555DOI Listing
April 2019
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Deep Brain Stimulation as Management of Generalized Dystonia in the 18p Deletion Syndrome.

Mov Disord Clin Pract 2019 Mar 25;6(3):263-264. Epub 2019 Feb 25.

Movement Disorders Unit, Department of Neurology Westmead Hospital Sydney Australia.

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http://dx.doi.org/10.1002/mdc3.12729DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6417752PMC
March 2019
1 Read

Implementation of the Current Dystonia Classification from 2013 to 2018.

Mov Disord Clin Pract 2019 Mar 1;6(3):250-253. Epub 2019 Mar 1.

Edmond J. Safra Program in Parkinson's Disease and Morton and Gloria Shulman Movement Disorders Centre Toronto Western Hospital, UHN, Division of Neurology, University of Toronto Toronto Ontario Canada.

Background: There is a discrepancy in the way dystonia is classified in the literature, as articles continue to reference the old criteria or fail to use the 2013 criteria correctly.

Methods: We performed a systematic review of the dystonia literature and distinguished between studies that use the new classification correctly, made errors in implementing the new classification, or continued to use the old classification methods.

Results: Of the 990 articles included in the study, 59. Read More

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http://dx.doi.org/10.1002/mdc3.12736DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6417753PMC
March 2019
2 Reads

Pharmacological management of abnormal tone and movement in cerebral palsy.

Arch Dis Child 2019 Apr 4. Epub 2019 Apr 4.

Paediatric Neurosciences, Guy's and St Thomas' NHS Foundation Trust, London, UK.

Background: The evidence base to guide the pharmacological management of tone and abnormal movements in cerebral palsy (CP) is limited, as is an understanding of routine clinical practice in the UK. We aimed to establish details of motor phenotype and current pharmacological management of a representative cohort across a network of UK tertiary centres.

Methods: Prospective multicentre review of specialist motor disorder clinics at nine UK centres, collecting data on clinical features and pharmacological management of children and young people (CYP) with CP over a single calendar month. Read More

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http://dx.doi.org/10.1136/archdischild-2018-316309DOI Listing
April 2019
3 Reads

Analysis of the prevalence and onset of dysphonia and dysphagia symptoms in movement disorders at an academic medical center.

J Clin Neurosci 2019 Apr 1. Epub 2019 Apr 1.

Department of Neurology, Wake Forest School of Medicine, Winston-Salem, NC, USA.

Voice and swallowing impairments are common in movement disorders, but their effect on patients' quality of life is not well known. This study was conducted to determine the onset and prevalence of patient-reported dysphonia and dysphagia symptoms in Parkinson's disease (PD), dystonia, Atypical Parkinsonian Syndromes (APS), and Essential Tremor (ET). Patients referred to a movement disorders clinic in a tertiary care academic medical center completed validated voice and swallowing specific Quality of Life (QOL) questionnaires: Voice Handicap Index-10 (VHI-10) and Eating Assessment Tool-10 (EAT-10). Read More

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http://dx.doi.org/10.1016/j.jocn.2019.03.043DOI Listing
April 2019
3 Reads

Bipolar Disorder in a Young Woman With Preexisting Rapid-Onset Dystonia-Parkinsonism and Successful Treatment With Clozapine and Lithium.

J Clin Psychopharmacol 2019 May/Jun;39(3):277-279

Child Neuropsychiatry Unit, Department of Neuroscience, IRCCS Children Hospital Bambino GesùRome, Italy Child Neuropsychiatry Unit, Department of Neuroscience, IRCCS Children Hospital Bambino GesùRome, Italy and Department of Human Sciences, "Sapienza" University of Rome, Rome, Italy Child Neuropsychiatry Unit, Department of Neuroscience, IRCCS Children Hospital Bambino GesùRome, Italy.

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http://dx.doi.org/10.1097/JCP.0000000000001045DOI Listing
April 2019
2 Reads

Task-Specific Oromandibular Dystonia in a Telemarketer.

J Mov Disord 2019 Apr 4. Epub 2019 Apr 4.

Department of Neurology, Catholic Kwandong University College of Medicine, International St. Mary's Hospital, Incheon, Korea.

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http://dx.doi.org/10.14802/jmd.18030DOI Listing
April 2019
1 Read

A Case of Ascending and Descending Stair-Specific Dystonia.

J Mov Disord 2019 Apr 5. Epub 2019 Apr 5.

Department of Neurology, Thomas Jefferson University, Philadelphia, PA, USA.

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http://dx.doi.org/10.14802/jmd.18057DOI Listing
April 2019
1 Read

Specific characteristics of the medical history of swallowing before and after application of botulinum toxin in patients with cervical dystonia.

Clinics (Sao Paulo) 2019 Apr 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

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http://dx.doi.org/10.6061/clinics/2019/e776DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6432842PMC
April 2019
12 Reads

Glucose Transporter Type 1 Deficiency Syndrome: Developmental Delay and Early-Onset Ataxia in a Novel Mutation of the Gene.

J Pediatr Neurosci 2018 Oct-Dec;13(4):496-499

Child Neurology and Psychiatry Unit, IRCCS Institute of Neurological Sciences, Bologna, Italy.

Glucose transporter type 1 deficiency syndrome (GLUT1-DS) was first described by De Vivo in 1991, and the classic clinical manifestations include infantile epilepsy, developmental delay, and acquired microcephaly. A neurological complex disorder including elements of hypotonia, spasticity, ataxia, and dystonia can frequently be present. GLUT1-DS is an inborn error of metabolism caused by impaired glucose transport through blood-brain barrier in the majority of patients because of mutation of solute carrier family 2 (facilitated glucose transporter) member 1 gene (), encoding the transporter protein. Read More

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http://www.pediatricneurosciences.com/text.asp?2018/13/4/496
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http://dx.doi.org/10.4103/JPN.JPN_169_17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6413611PMC
April 2019
2 Reads

De-novo KMT2B mutation in a consanguineous family: 15-Year follow-up of an Afghan dystonia patient.

Parkinsonism Relat Disord 2019 Mar 25. Epub 2019 Mar 25.

Institute of Neurogenetics, University of Lübeck, Lübeck, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2019.03.018DOI Listing
March 2019
2 Reads

"Spastic Dystonia", "Dystonia with Spasticity" or "Dystonia accompanying the Upper Motor Neuron Complex"? A reconciliation of nomenclature is needed.

Clin Neurophysiol 2019 Mar 27. Epub 2019 Mar 27.

Complex Motor Disorders Service, Evelina London Children's Hospital, Guy's and St Thomas' NHS Foundation Trust, UK; Department of Women and Children's Health, King's College London, UK.

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http://dx.doi.org/10.1016/j.clinph.2019.03.010DOI Listing
March 2019
2 Reads
3.097 Impact Factor

Multiple rib fractures due to dystonia in a multiple system atrophy-Parkinsonian patient.

Rev Neurol (Paris) 2019 Mar 29. Epub 2019 Mar 29.

Department of neurophysiology, Rouen university hospital-Charles-Nicolle, 76000 Rouen, France.

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http://dx.doi.org/10.1016/j.neurol.2018.08.009DOI Listing
March 2019
2 Reads

Improvement of quality of life and mental health in patients with spasmodic torticollis after microvascular decompression.

Clin Neurol Neurosurg 2019 Mar 4;180:57-60. Epub 2019 Mar 4.

Department of Neurological Surgery, Tongren Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China. Electronic address:

Objective: Although not life threatening, spasmodic torticollis (ST) impairs patients' daily activity, socialization and work. The aim of this study was to evaluate the quality of life (QOL) and mental health in patients with ST after microvascular decompression (MVD).

Patients And Methods: From June 2014 to June 2017, patients with ST who underwent MVD in our department were included in this study. Read More

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http://dx.doi.org/10.1016/j.clineuro.2019.03.001DOI Listing
March 2019
2 Reads
1.248 Impact Factor

Increased Finger-Tapping Related Cerebellar Activation in Cervical Dystonia, Enhanced by Transcranial Stimulation: An Indicator of Compensation?

Front Neurol 2019 15;10:231. Epub 2019 Mar 15.

Department of Neurology, University of Würzburg, Würzburg, Germany.

Cervical dystonia is a movement disorder causing abnormal postures and movements of the head. While the exact pathophysiology of cervical dystonia has not yet been fully elucidated, a growing body of evidence points to the cerebellum as an important node. Here, we examined the impact of cerebellar interference by transcranial magnetic stimulation on finger-tapping related brain activation and neurophysiological measures of cortical excitability and inhibition in cervical dystonia and controls. Read More

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http://dx.doi.org/10.3389/fneur.2019.00231DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6428698PMC
March 2019
5 Reads

Atypical somatosensory-motor cortical response during vowel vocalization in spasmodic dysphonia.

Clin Neurophysiol 2019 Mar 23. Epub 2019 Mar 23.

Human Sensorimotor Control Laboratory, School of Kinesiology, University of Minnesota, United States.

Objective: Spasmodic dysphonia (SD) is a debilitating voice/speech disorder without an effective cure. To obtain a better understanding of the underlying cortical neural mechanism of the disease we analyzed electroencephalographic (EEG) signals of people with SD during voice production.

Method: Ten SD individuals and 10 healthy volunteers produced 50 vowel vocalization epochs of 2500 ms duration. Read More

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http://dx.doi.org/10.1016/j.clinph.2019.03.003DOI Listing
March 2019
1 Read

Cause or effect: Altered brain and network activity in cervical dystonia is partially normalized by botulinum toxin treatment.

Neuroimage Clin 2019 Mar 26;22:101792. Epub 2019 Mar 26.

Hans Berger Department for Neurology, Friedrich Schiller University of Jena, Germany.

Background: Idiopathic cervical dystonia (CD) is a chronic movement disorder characterized by impressive clinical symptoms and the lack of clear pathological findings in clinical diagnostics and imaging. At present, the injection of botulinum toxin (BNT) in dystonic muscles is an effective therapy to control motor symptoms and pain in CD.

Objectives: We hypothesized that, although it is locally injected to dystonic muscles, BNT application leads to changes in brain and network activity towards normal brain function. Read More

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http://dx.doi.org/10.1016/j.nicl.2019.101792DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6444302PMC

Improvement of writer's cramp from an old lesion in the contralateral hemisphere with transient gait disturbance after thalamotomy: a case study.

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

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http://dx.doi.org/10.1016/j.wneu.2019.03.199DOI Listing
March 2019
1 Read

Clinical and biochemical footprints of inherited metabolic diseases. I. Movement disorders.

Mol Genet Metab 2019 Mar 26. Epub 2019 Mar 26.

Dietmar-Hopp Metabolic Center, University Children's Hospital, Heidelberg, Germany; Division of Metabolism, Children's Hospital, Zürich, Switzerland. Electronic address:

About a third of patients with inherited metabolic diseases with neurologic involvement suffer from a movement disorder, in the form of ataxia, hyperkinetic movements, or hypokinetic-rigid syndrome. We reviewed and updated the list of known metabolic etiologies associated with various types of movement disorders, and found approximately 200 relevant inborn errors of metabolism. This represents the first of a series of articles attempting to create and maintain a comprehensive list of clinical and metabolic differential diagnoses according to system involvement. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S10967192183073
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http://dx.doi.org/10.1016/j.ymgme.2019.03.007DOI Listing
March 2019
5 Reads

Unraveling corticobasal syndrome and alien limb syndrome with structural brain imaging.

Cortex 2019 Feb 25;117:33-40. Epub 2019 Feb 25.

Max Planck Institute for Human Cognitive and Brain Sciences, Leipzig, Germany; Clinic of Cognitive Neurology, University of Leipzig, Germany; FTLD Consortium Germany, Germany.

Alien limb phenomenon is a rare syndrome associated with a feeling of non-belonging and disowning toward one's limb. In contrast, anarchic limb phenomenon leads to involuntary but goal-directed movements. Alien/anarchic limb phenomena are frequent in corticobasal syndrome (CBS), an atypical parkinsonian syndrome characterized by rigidity, akinesia, dystonia, cortical sensory deficit, and apraxia. Read More

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http://dx.doi.org/10.1016/j.cortex.2019.02.015DOI Listing
February 2019
2 Reads
5.128 Impact Factor

Different Niemann-Pick C1 Genotypes Generate Protein Phenotypes that Vary in their Intracellular Processing, Trafficking and Localization.

Sci Rep 2019 Mar 28;9(1):5292. Epub 2019 Mar 28.

Department of Physiological Chemistry, University of Veterinary Medicine Hannover, 30559, Hannover, Germany.

Niemann-Pick Type C (NP-C) is an inherited neurovisceral lysosomal storage disease characterized by a defect in the trafficking of endocytosed cholesterol. In 95% of patients the gene encoding NPC1 is affected. The correlation of the genetic background in NP-C with the clinical phenotype such as, severity and onset of liver dysfunction, ataxia, dystonia and vertical gaze palsy, has not been elucidated at the molecular level. Read More

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http://dx.doi.org/10.1038/s41598-019-41707-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6438969PMC
March 2019
2 Reads

The Place of Erythroidines in the History of Neuromuscular Blockers.

J Anesth Hist 2019 Jan 6;5(1):22-24. Epub 2018 Nov 6.

Department of Anaesthesia, Critical Care & Pain Medicine, Royal Infirmary of Edinburgh, UK. Electronic address:

Between 1938 and 1951 erythroidine derivatives were seriously considered as alternatives to curare for the provision of muscle relaxation. This has been overlooked in the published history of anaesthesia. The first publication on the paralysing effect of an extract of Erythrina americana was in 1877, but this was in a Mexican journal, which was not widely read. Read More

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http://dx.doi.org/10.1016/j.janh.2018.10.008DOI Listing
January 2019
1 Read

Current therapies and therapeutic decision making for childhood-onset movement disorders.

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

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http://dx.doi.org/10.1002/mds.27661DOI Listing
March 2019
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Top-down alteration of functional connectivity within the sensorimotor network in focal dystonia.

Neurology 2019 Apr 27;92(16):e1843-e1851. Epub 2019 Mar 27.

From the Memory and Aging Center (G.B.), Department of Neurology, University of California San Francisco; Department of Otolaryngology (K.S.), Massachusetts Eye and Ear; Department of Neurology (K.S.), Massachusetts General Hospital (K.S.); and Harvard Medical School (K.S.), Boston, MA.

Objectives: To determine the directionality of regional interactions and influences of one region on another within the functionally abnormal sensorimotor network in isolated focal dystonia.

Methods: A total of 40 patients with spasmodic dysphonia with and without dystonic tremor of voice and 35 healthy controls participated in the study. Independent component analysis (ICA) of resting-state fMRI was used to identify 4 abnormally coupled brain regions within the functional sensorimotor network in all patients compared to controls. Read More

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http://dx.doi.org/10.1212/WNL.0000000000007317DOI Listing
April 2019
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Pain in cervical dystonia and the antinociceptive effects of botulinum toxin: what is currently known?

Rev Neurosci 2019 Mar 27. Epub 2019 Mar 27.

Chair and Department of Neurology, Medical University of Lublin, Lublin, Poland.

Pain is the most common and disabling non-motor symptom in cervical dystonia (CD). Up to 88.9% of patients report pain at some point in the course of the disease. Read More

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http://dx.doi.org/10.1515/revneuro-2018-0119DOI Listing
March 2019
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Conversion Disorder: The Brain's Way of Dealing with Psychological Conflicts. Case Report of a Patient with Non-epileptic Seizures.

Cureus 2019 Jan 16;11(1):e3902. Epub 2019 Jan 16.

Neurology, Marcus Neuroscience Institute at Boca Raton Regional Hospital, Boca Raton, USA.

Conversion disorder or a functional neurological symptom disorder is a psychiatric illness in which psychological conflicts are manifested as physical symptoms. Common examples of symptoms include blindness, paralysis, dystonia, anesthesia, inability to speak, difficulty swallowing, incontinence, balance problems, tremors, difficulty walking, hallucinations, and psychogenic non-epileptic seizures (PNES). Conversion disorder is often missed on initial medical and neurological evaluations due to the lack of a definitive organic diagnosis. Read More

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http://dx.doi.org/10.7759/cureus.3902DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6424587PMC
January 2019
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Neural Correlates of Abnormal Temporal Discrimination in Unaffected Relatives of Cervical Dystonia Patients.

Front Integr Neurosci 2019 12;13. Epub 2019 Mar 12.

Trinity Centre for Bioengineering, Trinity College Dublin, University of Dublin, Dublin, Ireland.

An abnormal temporal discrimination threshold in cervical dystonia (CD) is considered to be a mediational endophenotype; in unaffected relatives it is hypothesized to indicate non-manifesting gene carriage. The pathogenesis underlying this condition remains unknown. Investigation of the neural networks involved in disordered temporal discrimination may highlight its pathomechanisms. Read More

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http://dx.doi.org/10.3389/fnint.2019.00008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6423170PMC
March 2019
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Genetic mimics of cerebral palsy.

Mov Disord 2019 Mar 26. Epub 2019 Mar 26.

Department of Neurogenetics, Kolling Institute, Royal North Shore Hospital and University of Sydney, St Leonards, NSW, Australia.

The term "cerebral palsy mimic" is used to describe a number of neurogenetic disorders that may present with motor symptoms in early childhood, resulting in a misdiagnosis of cerebral palsy. Cerebral palsy describes a heterogeneous group of neurodevelopmental disorders characterized by onset in infancy or early childhood of motor symptoms (including hypotonia, spasticity, dystonia, and chorea), often accompanied by developmental delay. The primary etiology of a cerebral palsy syndrome should always be identified if possible. Read More

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http://dx.doi.org/10.1002/mds.27655DOI Listing
March 2019
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A Compound Heterozygote for GCH1 Mutation Represents a Case of Atypical Dopa-Responsive Dystonia.

J Mol Neurosci 2019 Mar 25. Epub 2019 Mar 25.

S. N. Pradhan Centre for Neurosciences, University of Calcutta, 35, Ballygunge Circular Road, Kolkata, 700019, India.

Dopa-responsive dystonia (DRD), a movement disorder, is characterized by young onset dystonia and dramatic response to levodopa treatment. However, the wide range of phenotypic spectrum of the disease often leads to misdiagnosis. DRD is usually caused by mutation in GCH1 gene coding for GTP cyclohydrolase 1 (GTPCH1) enzyme, which is involved in biosynthesis of tetrahydrobiopterin (BH4) and dopamine. Read More

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http://link.springer.com/10.1007/s12031-019-01301-3
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http://dx.doi.org/10.1007/s12031-019-01301-3DOI Listing
March 2019
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