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Developmental Medicine and Child... Feb 2020An ever-increasing number of neurogenetic conditions presenting with both epilepsy and atypical movements are now recognized. These disorders within the 'genetic... (Review)
Review
An ever-increasing number of neurogenetic conditions presenting with both epilepsy and atypical movements are now recognized. These disorders within the 'genetic epilepsy-dyskinesia' spectrum are clinically and genetically heterogeneous. Increased clinical awareness is therefore necessary for a rational diagnostic approach. Furthermore, careful interpretation of genetic results is key to establishing the correct diagnosis and initiating disease-specific management strategies in a timely fashion. In this review we describe the spectrum of movement disorders associated with genetically determined epilepsies. We also propose diagnostic strategies and putative pathogenic mechanisms causing these complex syndromes associated with both seizures and atypical motor control. WHAT THIS PAPER ADDS: Implicated genes encode proteins with very diverse functions. Pathophysiological mechanisms by which epilepsy and movement disorder phenotypes manifest are often not clear. Early diagnosis of treatable disorders is essential and next generation sequencing may be required.
Topics: Epilepsy; Humans; Movement Disorders
PubMed: 31784983
DOI: 10.1111/dmcn.14407 -
Seminars in Pediatric Neurology Aug 2017Movement disorders secondary to autoantibodies in children represent a rapidly expanding group of conditions. Once considered to be limited to poststreptococcal... (Review)
Review
Movement disorders secondary to autoantibodies in children represent a rapidly expanding group of conditions. Once considered to be limited to poststreptococcal Sydenham's chorea or rare cases of childhood systemic lupus erythematosus, a variety of antibody-related movement abnormalities are now seen as part of noninfectious autoimmune encephalitis or within an expanding list of postinfectious disorders. In this article, several proposed autoantibody-mediated movement disorders in children are reviewed. In each one, there is a hypothesized antibody biomarker that is believed to be pathogenic and cause the clinical symptoms. As will be discussed, in some, such as anti-NMDA receptor encephalitis, the strength of supporting evidence is strong. In others, antibodies have been identified, but their role as the pathophysiological mechanism remains undetermined. Lastly, there are proposed disorders, such as PANDAS, that are controversial on both a clinical and autoimmune basis.
Topics: Autoantibodies; Child; Humans; Movement Disorders
PubMed: 29103424
DOI: 10.1016/j.spen.2017.08.003 -
Current Neurology and Neuroscience... May 2018This review aims to provide the basic knowledge on the genetics of hypokinetic and hyperkinetic movement disorders to guide clinicians in the decision of "who and what... (Review)
Review
PURPOSE OF REVIEW
This review aims to provide the basic knowledge on the genetics of hypokinetic and hyperkinetic movement disorders to guide clinicians in the decision of "who and what to test for?"
RECENT FINDINGS
In recent years, the identification of various genetic causes of hypokinetic and hyperkinetic movement disorders has had a great impact on a better definition of different clinical syndromes. Indeed, the advent of next-generation sequencing (NGS) techniques has provided an impressive step forward in the easy identification of genetic forms. However, this increased availability of genetic testing has challenges, including the ethical issue of genetic testing in unaffected family members, "commercially" available home testing kits and the increasing number and relevance of "variants of unknown significance." The emergent role of genetic factors has important implications on clinical practice and counseling. As a consequence, it is fundamental that practicing neurologists have a proper knowledge of the genetic background of the diseases and perform an accurate selection of who has to be tested and for which gene mutations.
Topics: Counseling; Genetic Testing; High-Throughput Nucleotide Sequencing; Humans; Movement Disorders
PubMed: 29789954
DOI: 10.1007/s11910-018-0847-1 -
Journal of the International... Oct 2017This paper highlights major developments over the past two to three decades in the neuropsychology of movement and its disorders. We focus on studies in healthy... (Review)
Review
This paper highlights major developments over the past two to three decades in the neuropsychology of movement and its disorders. We focus on studies in healthy individuals and patients, which have identified cognitive contributions to movement control and animal work that has delineated the neural circuitry that makes these interactions possible. We cover advances in three major areas: (1) the neuroanatomical aspects of the "motor" system with an emphasis on multiple parallel circuits that include cortical, corticostriate, and corticocerebellar connections; (2) behavioral paradigms that have enabled an appreciation of the cognitive influences on the preparation and execution of movement; and (3) hemispheric differences (exemplified by limb praxis, motor sequencing, and motor learning). Finally, we discuss the clinical implications of this work, and make suggestions for future research in this area. (JINS, 2017, 23, 768-777).
Topics: Brain; Cognition Disorders; Humans; Movement; Movement Disorders; Neuropsychology
PubMed: 29198273
DOI: 10.1017/S1355617717000698 -
Parkinsonism & Related Disorders Dec 2002The spectrum of movement disorders in the tropics is different from that seen in the industrialized nations of the west. This is not surprising given the unique... (Review)
Review
The spectrum of movement disorders in the tropics is different from that seen in the industrialized nations of the west. This is not surprising given the unique combination of environmental and population characteristics in the tropics. Infections seldom encountered in the west such as tuberculous meningitis, typhoid fever, Japanese encephalitis, malaria, trypanosomiasis or cysticercosis are often seen in the tropics and with global patterns of travel and immigration these conditions are becoming more common worldwide. Movement disorders associated with these infections, HIV, slow virus and prion disease are discussed. Taking into account the diverse etiologies of movement disorders in the tropics, movement disorders with a nutritional basis such as the infantile tremor syndrome, seasonal ataxia and tropical ataxic neuropathy, and manganese neurotoxicity are also reviewed. Finally, certain special characteristics of ubiquitous disorders such as Parkinson's disease, and disorders with a genetic basis such as Wilson's disease and spinocerebellar degeneration are described.
Topics: Animals; Environmental Health; Humans; Movement Disorders; Tropical Climate
PubMed: 12473395
DOI: 10.1016/s1353-8020(02)00055-x -
European Journal of Paediatric... Jul 2010Inborn errors of metabolism (IEM) are a group of genetic disorders characterized by dysfunction of an enzyme or other protein involved in cellular metabolism.(1) Most... (Review)
Review
Inborn errors of metabolism (IEM) are a group of genetic disorders characterized by dysfunction of an enzyme or other protein involved in cellular metabolism.(1) Most IEMs involve the nervous system (neuro-metabolic diseases or NMD). NMD often present with a complex clinical picture: psychomotor retardation and/or regression, pyramidal signs, ataxia, hypotonia and epilepsy and movement disorders.(1) Movement disorders are more frequently part of this complex picture than a predominant symptom, however in some instances the clinical picture may be summarized in an invalidating movement disorder.(2) On a phenomenology basis, one can distinguish eight main types of movement disorders: dystonia and athetosis, chorea, tremor with or without parkinsonism, ballismus, myoclonus, tics and stereotypies. Most of these abnormal involuntary movements generate from a dysfunction or a lesion in the basal ganglia, excepting myoclonus, the origin of which can vary (cortical, brainstem, basal ganglia, spinal and even peripheral nervous system).(3) Classically the most frequently observed movement disorders in NMD are: dystonia, myoclonus, chorea, tremor and parkinsonism (Fig. 1). The primary goal of this article is, departing from the literature and a large personal series, to describe the types of movement disorders most frequently observed in NMD and to discuss their clinical value in the setting of specific types of NMD.
Topics: Humans; Metabolism, Inborn Errors; Movement Disorders; Nervous System Diseases
PubMed: 20015670
DOI: 10.1016/j.ejpn.2009.11.005 -
Journal of Stroke and Cerebrovascular... Sep 2018Abnormal movements are a relatively uncommon complication of strokes. Besides the known correlation between stroke location and certain movement disorders, there remain... (Review)
Review
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.
RESULTS
Posterolateral thalamus was the most common region affected (22.5%) and dystonia the most commonly reported movement disorder (23.2%). The most common disorders were parkinsonism (17.4%) and chorea (17.4%) after ischemic strokes and dystonia (45.5%) and tremor (19.7%) after hemorrhagic strokes. Strokes in the caudate and putamen were complicated by dystonia in one third of the cases; strokes in the globus pallidus were followed by parkinsonism in nearly 40%. Chorea was the earliest poststroke movement disorder, appearing within hours, whereas dystonia and tremor manifested several months after stroke. Hemorrhagic strokes were responsible for most delayed-onset movement disorders (>6 months) and were particularly overrepresented among younger individuals affected by dystonia.
CONCLUSIONS
This evidence-mapping portrait of poststroke movement disorders will require validation or correction based on a prospective epidemiologic study. We hypothesize that selective network vulnerability and resilience may explain the differences observed in movement phenomenology and outcomes after stroke.
Topics: Humans; Movement Disorders; Stroke
PubMed: 29793802
DOI: 10.1016/j.jstrokecerebrovasdis.2018.04.028 -
Journal of Neurology, Neurosurgery, and... Aug 2019Seizures and movement disorders (MDs) are distinct neurological conditions presenting with abnormal movements. Despite sharing an overlap in phenomenology, these... (Review)
Review
Seizures and movement disorders (MDs) are distinct neurological conditions presenting with abnormal movements. Despite sharing an overlap in phenomenology, these movements have different origins. In order to explore the overlaps and the narrow boundaries between these two conditions, we performed a review of the literature to explore the risk of seizures in MDs. We discussed the mimics and chameleons including MDs that look like seizure (eg, paroxysmal dyskinesia, status dystonicus) and seizures that look like MDs (eg, , nocturnal frontal lobe epilepsy). Additionally, we examined the therapeutic challenges as well as the anatomical and chemical pathways relevant in the interplay between epilepsy and MDs. Finally, we proposed an algorithm to guide clinicians towards the final diagnosis of conditions characterised by the co-occurrence of MDs and seizures.
Topics: Diagnosis, Differential; Humans; Movement Disorders; Risk Factors; Seizures
PubMed: 30796133
DOI: 10.1136/jnnp-2018-320039 -
Arquivos de Neuro-psiquiatria Jun 2012Movement disorders (MD) encompass acute and chronic diseases characterized by involuntary movements and/or loss of control or efficiency in voluntary movements. In this... (Review)
Review
Movement disorders (MD) encompass acute and chronic diseases characterized by involuntary movements and/or loss of control or efficiency in voluntary movements. In this review, we covered situations in which the main manifestations are MDs that pose significant risks for acute morbidity and mortality. The authors examine literature data on the most relevant MD emergencies, including those related to Parkinson's disease, acute drug reactions (acute dystonia, neuroleptic malignant syndrome, serotonergic syndrome and malignant hyperthermia), acute exacerbation of chronic MD (status dystonicus), hemiballism and stiff-person syndrome, highlighting clinical presentation, demographics, diagnosis and management.
Topics: Acute Disease; Emergency Treatment; Humans; Movement Disorders
PubMed: 22699544
DOI: 10.1590/s0004-282x2012000600013 -
La Revue Du Praticien Jun 2020Movement disorders in children. The phenomenological spectrum of pediatric movement disorders is wide and correspond to a large variety of causes. It comprises fixed...
Movement disorders in children. The phenomenological spectrum of pediatric movement disorders is wide and correspond to a large variety of causes. It comprises fixed transient, and progressive disorders. Relative frequencies differ from those observed in adult neurology. Neurodevelopmental motor disorders such as tics, stereotypies and dystonia are more prevalent than parkinsonism. Proper characterization of the movement disorder is the starting point to the diagnosis. A particular attention should be paid to detailed clinical history, associated features, psychomotor development, tempo of appearance and time course of symptoms, precipitating or alleviating factors, and interference with voluntary movements. Evaluation of the functional impairment is critical to guide the clinical care of the children. Focus on potentially treatable disorders is essential. Here, we propose some practical guidance for diagnosis and treatment of movement disorders in children.
Topics: Child; Humans; Movement Disorders; Stereotypic Movement Disorder
PubMed: 33058611
DOI: No ID Found