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Dystonia review

Andrew Swayne, Linda Tjoa, Simon Broadley, Sasha Dionisio, David Gillis, Leslie Jacobson, Mark R Woodhall, Andrew McNabb, Daniel Schweitzer, Ben Tsang, Angela Vincent, Sarosh R Irani, Richard Wong, Patrick Waters, Stefan Blum
INTRODUCTION: Antibodies to glycine receptors (GlyR-Abs) were first defined in progressive encephalopathy with rigidity and myoclonus (PERM), but subsequently identified in other clinical presentations. We aimed to assess the clinical associations of all patients identified with GlyR-Abs in Queensland, Australia between April 2014 to May 2017, and compared these to cases reported in the literature. METHODS: A literature review identified the clinical features of all published GlyR-Ab positive cases through online databases...
June 15, 2018: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
Conor S Ryan, Anthony L Fine, Alexander L Cohen, Brenda M Schiltz, Deborah L Renaud, Elaine C Wirrell, Marc C Patterson, Nicole J Boczek, Raymond Liu, Dusica Babovic-Vuksanovic, David C Chan, Eric T Payne
BACKGROUND: The dynamin 1-like gene ( DNM1L) encodes a GTPase that mediates mitochondrial and peroxisomal fission and fusion. We report a new clinical presentation associated with a DNM1L pathogenic variant and review the literature. RESULTS: A 13-year-old boy with mild developmental delays and paroxysmal dystonia presented acutely with multifocal myoclonic super-refractory status epilepticus. Despite sustained and aggressive treatment, seizures persisted and care was ultimately withdrawn in the context of extensive global cortical atrophy...
January 1, 2018: Journal of Child Neurology
Navnika Gupta, Sanjay Pandey
BACKGROUND: After a stroke, movement disorders are rare manifestations mainly affecting the deep structures of the brain like the basal ganglia (44%) and thalamus (37%), although there have been case studies of movement disorders in strokes affecting the cerebral cortex also. SUMMARY: This review aims to delineate the various movement disorders seen in association with thalamic strokes and tries to identify the location of the nuclei affected in each of the described movement disorders...
June 5, 2018: European Neurology
Ashley M Enke, Gail A Poskey
OBJECTIVE: The purpose of this systematic review was to evaluate the effectiveness of neuromuscular re-education programs on reducing abnormal movements during instrument play in musicians with focal hand dystonia (FHD). METHODS: A systematic literature search of published articles was performed. Databases searched included MEDLINE, CINAHL, PsycINFO, OTseeker, and the Cochrane Library. Additional articles were identified from reference lists. Studies meeting inclusion criteria were independently assessed by the two coauthors for eligibility and quality of methods...
June 2018: Medical Problems of Performing Artists
Linda Slaim, Myriam Cohen, Patrick Klap, Marie Vidailhet, Alain Perrin, Daniel Brasnu, Denis Ayache, Marie Mailly
OBJECTIVE: To report demographic data from a large cohort of patients with oromandibular dystonia (OMD). METHODS: This is a retrospective review of patients with OMD referred to our institution between 1989 and 2015. Demographic (age of onset, gender, and familial history of dystonia) and clinical (type of OMD, associated dystonia, and etiology of dystonia) data were collected from a cohort of 240 individuals. RESULTS: The mean age of onset of OMD was 51...
May 2018: Journal of Movement Disorders
Saeed Razmeh, Amir Hassan Habibi, Maryam Orooji, Elham Alizadeh, Karim Moradiankokhdan, Behroz Razmeh
Pantothenate Kinase-Associated Neurodegeneration (PKAN) is an autosomal recessive disorder characterized by a mutation in the PANK 2 gene. The clinical presentation may range from only speech disorder to severe generalized dystonia, spasticity, Visual loss, dysphagia and dementia. The hallmark of this disease is eyes of the tiger sign in the medial aspect of bilateral globus pallidus on T2-weighted MRI that is a hyperintense lesion surrounded by hypointensity. Common treatments for PKAN disease include anticholinergics, botulinum toxin, Oral and Intrathecal baclofen, Iron chelation drugs and surgical procedures such as ablative pallidotomy or thalamotomy, Deep brain stimulation...
March 30, 2018: Neurology International
Raffaele Nardone, Viviana Versace, Yvonne Höller, Luca Sebastianelli, Francesco Brigo, Piergiorgio Lochner, Stefan Golaszewski, Leopold Saltuari, Eugen Trinka
Transcranial magnetic stimulation (TMS) may represent a valuable tool for investigating important neurophysiological and pathophysiological aspects of myoclonus. Moreover, repetitive TMS (rTMS) can influence neural activity. In this review we performed a systematic search of all studies using TMS in order to explore cortical excitability/plasticity and rTMS for the treatment of myoclonus due to different aetiologies. We identified and reviewed 40 articles matching the inclusion criteria; 415 patients were included in these studies...
May 24, 2018: Brain Research Bulletin
Nilupaer Abudukeyoumu, Teresa Hernandez-Flores, Marianela Garcia-Munoz, Gordon W Arbuthnott
The purpose of this review is to bridge the gap between earlier literature on striatal cholinergic interneurons and mechanisms of microcircuit interaction evidenced with the use of newly available tools. It is well known that the main source of the high level of acetylcholine in the striatum are the cholinergic interneurons. These interneurons provide an extensive local innervation that suggests they may be a key modulator of striatal microcircuits. Supporting this idea requires the consideration of functional properties of these interneurons, their influence on medium spiny neurons, other interneurons, and interactions with other synaptic regulators...
May 24, 2018: European Journal of Neuroscience
Ritika Suri, Federico Rodriguez-Porcel, Kelly Donohue, Erin Jesse, Lilia Lovera, Alok Kumar Dwivedi, Alberto J Espay
PURPOSE: Abnormal movements are a relatively uncommon complication of strokes. Besides the known correlation between stroke location and certain movement disorders, there remain uncertainties about the collective effects of age and stroke mechanism on phenomenology, onset latency, and outcome of abnormal movements. MATERIALS AND METHODS: We systematically reviewed all published cases and case series with adequate clinical-imaging correlations. A total of 284 cases were analyzed to evaluate the distribution of different movement disorders and their association with important cofactors...
May 21, 2018: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
M Garriz-Luis, R Sanchez-Carpintero, M Alegre, S Tejada
INTRODUCTION: Infantile cerebral palsy is a well-known condition, the prevalence of which has varied only slightly over the years. The most common subtype is spastic diplegia, and spasticity is the most disabling symptom. Its treatment involves a multidisciplinary intervention that includes rehabilitation, the use of drugs, and orthopaedic and nervous system surgery, where selective dorsal rhizotomy is a prominent procedure. AIM: To present a thorough review of the use, indication and long-term consequences of selective dorsal rhizotomy...
June 1, 2018: Revista de Neurologia
Elena Fonfria, Jacquie Maignel, Stephane Lezmi, Vincent Martin, Andrew Splevins, Saif Shubber, Mikhail Kalinichev, Keith Foster, Philippe Picaut, Johannes Krupp
Botulinum neurotoxin (BoNT) is a major therapeutic agent that is licensed in neurological indications, such as dystonia and spasticity. The BoNT family, which is produced in nature by clostridial bacteria, comprises several pharmacologically distinct proteins with distinct properties. In this review, we present an overview of the current therapeutic landscape and explore the diversity of BoNT proteins as future therapeutics. In recent years, novel indications have emerged in the fields of pain, migraine, overactive bladder, osteoarthritis, and wound healing...
May 18, 2018: Toxins
Alexandra Jacob, Darryl Kaelin, Abbey Roach, Craig Ziegler, Kathrin LaFaver
BACKGROUND: Functional Movement Disorders (FMD) are conditions of abnormal motor control thought to be caused by psychological factors. These disorders are commonly seen in neurological practice and prognosis is often poor. No consensus treatment guidelines have been established, however the role of physical therapy in addition to psychotherapy has increasingly been recognized. This study reports patient outcomes from a multidisciplinary FMD treatment program using motor retraining (MoRe) strategies...
May 18, 2018: PM & R: the Journal of Injury, Function, and Rehabilitation
Cho-I Lin, Kuan-Lin Chen, Ta-Shen Kuan, Sheng-Han Lin, Wei-Pin Lin, Yu-Ching Lin
RATIONALE: Pantothenate kinase-associated neurodegeneration (PKAN) is a rare autosomal recessive disease. Progressive motor symptoms such as dystonia and spasticity begin in childhood and relentlessly become incapacitating later in life. Treatments including anticholinergics and iron chelation are usually ineffective. Botulinum toxin type A (BoNT-A) is effective for adult patients with dystonia or spasticity. PATIENT CONCERNS: We reported a 10-year-old female patient with advanced PKAN, manifesting as generalized dystonia and spasticity...
May 2018: Medicine (Baltimore)
Davide Martino, Vikram Karnik, Sydney Osland, Thomas R E Barnes, Tamara M Pringsheim
Movement disorders associated with antipsychotic medications are relatively common, stigmatising, and potentially disabling. Their prevalence in people with psychosis who are prescribed second-generation antipsychotics (SGAs) is uncertain, as is their level of recognition by clinicinas. We conducted meta-analyses of randomised controlled trials included in the Cochrane Database of Systematic Reviews on schizophrenia and schizophrenia-like psychoses to estimate the prevalence of new-onset dystonia, akathisia, parkinsonism, and tremor with SGAs (amisulpride, asenapine, aripiprazole, clozapine, olanzapine, paliperidone, quetiapine, risperidone, L-sulpiride, and ziprasidone) approved in Canada and the UK, comparing them with haloperidol and chlorpromazine...
January 1, 2018: Canadian Journal of Psychiatry. Revue Canadienne de Psychiatrie
Jaclyn Beckinghausen, Roy V Sillitoe
The cerebellum has a well-established role in controlling motor functions such coordination, balance, posture, and skilled learning. There is mounting evidence that it might also play a critical role in non-motor functions such as cognition and emotion. It is therefore not surprising that cerebellar deficits are associated with a wide array of diseases including ataxia, dystonia tremor, schizophrenia, dyslexia, and autism spectrum disorder. What is intriguing is that a seemingly uniform circuit that is often described as being "simple" should carry out all of these behaviors...
May 7, 2018: Neuroscience Letters
Celanie K Christensen, Laurence Walsh
Many inherited metabolic diseases or inborn errors of metabolism (IEM) cause movement disorders in children. This review focuses on chorea, dystonia, myoclonus, tremor, and parkinsonism. Broad neurometabolic categories commonly responsible for pediatric movement disorders include mitochondrial cytopathies, organic acidemias, mineral metabolism and transport disorders, neurotransmitter diseases, purine metabolism abnormalities, lipid storage conditions, and creatine metabolism dysfunction. Each movement disorder can be caused by many IEM and several of them can cause multiple movement abnormalities...
April 2018: Seminars in Pediatric Neurology
Inge A Meijer, Toni S Pearson
This article aims to provide a practical review of pediatric dystonia from a clinician's perspective. The focus is on the underlying genetic causes, recent findings, and treatable conditions. Dystonia can occur in an isolated fashion or accompanied by other neurological or systemic features. The clinical presentation is often a complex overlap of neurological findings with a large differential diagnosis. We recommend an approach guided by thorough clinical evaluation, brain magnetic resonance imaging (MRI), biochemical analysis, and genetic testing to hone in on the diagnosis...
April 2018: Seminars in Pediatric Neurology
Micol Avenali, R De Icco, M Tinazzi, G Defazio, L Tronconi, G Sandrini, C Tassorelli
Focal dystonia is characterized by involuntary muscle contractions that cause abnormal postures and/or twisting movements in a segment of the body. Motor symptoms have a major impact on disability in this condition, but the presence of pain represents an additional source of impairment and poor quality of life. Notwithstanding that pain occurs in up to 70% of patients with cervical dystonia and in a relevant proportion of subjects with focal dystonia of the limbs, it has received very little attention from researchers and controlled trials are scant...
April 27, 2018: Parkinsonism & related Disorders
Philippe Magown, Rafael A Andrade, Alexandra Soroceanu, Zelma H T Kiss
INTRODUCTION: Programming of globus pallidus pars interna (GPi) deep brain stimulation (DBS) systems for dystonia is complex because clinical benefits are often gradual. Some groups have advocated starting DBS with higher electrical parameters, whereas others have suggested the opposite. This variability in programming, even within each dystonia subtype, makes it challenging to compare outcomes and program the generators. To determine how variable DBS for dystonia stimulation parameters are, we performed a systematic literature review...
April 17, 2018: Parkinsonism & related Disorders
Gursharan Singh Samra, Saumitra Kant, Robert Chow
Angioedema has recently been reported as a side effect associated with the antipsychotic risperidone. We report a case of dystonia with concurrent angioedema due to risperidone. A 40-year-old male with a history of schizophrenia was started on 3 mg of risperidone BID and developed perioral and periorbital edema along with increased muscle rigidity and hand tremor within 24 h of initial administration. His symptoms abated after cessation of risperidone and intravenous administration of corticosteroids and antihistamine...
2018: Journal of Community Hospital Internal Medicine Perspectives
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