-
Current Neurology and Neuroscience... Jun 2019Recent advancements in next-generation sequencing (NGS) have enabled techniques such as whole exome sequencing (WES) and whole genome sequencing (WGS) to be used to... (Review)
Review
PURPOSE OF REVIEW
Recent advancements in next-generation sequencing (NGS) have enabled techniques such as whole exome sequencing (WES) and whole genome sequencing (WGS) to be used to study paroxysmal movement disorders (PMDs). This review summarizes how the recent genetic advances have altered our understanding of the pathophysiology and treatment of the PMDs. Recently described disease entities are also discussed.
RECENT FINDINGS
With the recognition of the phenotypic and genotypic heterogeneity that occurs amongst the PMDs, an increasing number of gene mutations are now implicated to cause the disorders. PMDs can also occur as part of a complex phenotype. The increasing complexity of PMDs challenges the way we view and classify them. The identification of new causative genes and their genotype-phenotype correlation will shed more light on the underlying pathophysiology and will facilitate development of genetic testing guidelines and identification of novel drug targets for PMDs.
Topics: Genetic Association Studies; Genetic Testing; High-Throughput Nucleotide Sequencing; Humans; Movement Disorders; Mutation; Nerve Tissue Proteins; Phenotype; Exome Sequencing
PubMed: 31187296
DOI: 10.1007/s11910-019-0958-3 -
Journal of Neurology Nov 2022Movement disorders of the mouth encompass a spectrum of hyperactive movements involving the muscles of the orofacial complex. They are rare conditions and are described... (Review)
Review
Movement disorders of the mouth encompass a spectrum of hyperactive movements involving the muscles of the orofacial complex. They are rare conditions and are described in the literature primarily in case reports originating from neurologists, psychiatrists, and the dental community. The focus of this review is to provide a phenomenological description of different oral motor disorders including oromandibular dystonia, orofacial dyskinesia and orolingual tremor, and to offer management strategies for optimal treatment based on the current literature. A literature search of full text studies using PubMed/Medline and Cochrane library combined with a manual search of the reference lists was conducted until June 2021. Results from this search included meta-analyses, systematic reviews, reviews, clinical studies, case series, and case reports published by neurologists, psychiatrists, dentists and oral and maxillofacial surgeons. Data garnered from these sources were used to provide an overview of most commonly encountered movement disorders of the mouth, aiding physicians in recognizing these rare conditions and in initiating appropriate therapy.
Topics: Dyskinesias; Dystonic Disorders; Humans; Mouth; Movement Disorders
PubMed: 35904592
DOI: 10.1007/s00415-022-11299-1 -
Parkinsonism & Related Disorders Jul 2021With the advances in neuroimmunology especially due to the discovery of new neuronal antibodies, the recognition of treatable antibody-related movement disorders has... (Review)
Review
With the advances in neuroimmunology especially due to the discovery of new neuronal antibodies, the recognition of treatable antibody-related movement disorders has recently received much attention. In contrast, the identification and characterisation of movement disorders associated with systemic autoimmune diseases remains a substantially unexplored area. Beyond the classic few associations such as chorea and antiphospholipid syndrome, or ataxia and coeliac disease, movement disorders have been reported in association with several systemic autoimmune diseases, however a clear image of clinical phenotypes, investigations, and treatment outcomes in these conditions has never been drawn. In this review, we analyse data from approximately 300 cases and summarise the epidemiological, clinical and diagnostic features of movement disorders associated with systemic autoimmune diseases, and the available knowledge about treatment and outcomes. We highlight that movement disorders in systemic autoimmune conditions are frequently the only or among a few presenting manifestations and are mostly treatable disorders responding to immunotherapy or dietary modifications. We point out the pertinent combination of clinical features and investigations which can suggest the underlying autoimmune nature of these movement disorders, and thus address the most appropriate treatment.
Topics: Autoimmune Diseases; Humans; Movement Disorders
PubMed: 34092506
DOI: 10.1016/j.parkreldis.2021.05.026 -
Nature Reviews. Neurology Feb 2020In a range of neurological conditions, including movement disorders, sex-related differences are emerging not only in brain anatomy and function, but also in... (Review)
Review
In a range of neurological conditions, including movement disorders, sex-related differences are emerging not only in brain anatomy and function, but also in pathogenesis, clinical features and response to treatment. In Parkinson disease (PD), for example, oestrogens can influence the severity of motor symptoms, whereas elevation of androgens can exacerbate tic disorders. Nevertheless, the real impact of sex differences in movement disorders remains under-recognized. In this article, we provide an up-to-date review of sex-related differences in PD and the most common hyperkinetic movement disorders, namely, essential tremor, dystonia, Huntington disease and other chorea syndromes, and Tourette syndrome and other chronic tic disorders. We highlight the most relevant clinical aspects of movement disorders that differ between men and women. Increased recognition of these differences and their impact on patient care could aid the development of tailored approaches to the management of movement disorders and enable the optimization of preclinical research and clinical studies.
Topics: Female; Humans; Male; Movement Disorders; Sex Characteristics; Sex Factors; Treatment Outcome
PubMed: 31900464
DOI: 10.1038/s41582-019-0294-x -
Journal of Inherited Metabolic Disease 2005Movement disorders (ataxia, dystonic disorders, gait disorders, Huntington disease, myoclonus, parkinsonism, spasticity, tardive dyskinesia, tics and tremor) are... (Review)
Review
Movement disorders (ataxia, dystonic disorders, gait disorders, Huntington disease, myoclonus, parkinsonism, spasticity, tardive dyskinesia, tics and tremor) are clinically, pathologically and genetically heterogeneous and are characterized by impairment of the planning, control or execution of movement. Current classifications of these disorders have inherent shortcomings due to the complex nature of movement disorders and the lack of diagnostic tests for the majority. Undiscriminating terminology, as well as the clinical, pathological and genetic heterogeneity, further complicate the development of comprehensive categorizations. Modern classification schemes tend to focus on clinical, pathological or genetic/molecular criteria, but more recent attempts have been made to integrate across these levels. From a historical perspective, two 'golden ages' have shaped the current and evolving classification schemes: (1) the definition of clinical pathological entities in the early twentieth century and (2) the application of molecular neurogenetics in the past 10-15 years. However, the classification of movement disorders on clinical grounds (according to age at onset, distribution of symptoms, disease course, provoking factors and therapeutic response) remains one of the most useful modes of categorization. Postmortem criteria have been employed to distinguish between degenerative and nondegenerative disorders, and specific hallmarks may be required to establish or confirm a diagnosis. Genetic features used for classification purposes include mode of inheritance and molecular genetic data, such as linkage to a known gene locus or identification of a specific genetic defect. A final classification scheme is based on alterations in molecular mechanisms (e.g. trinucleotide expansions) or protein function (e.g. channelopathies). Despite recent advances, it may not be possible to develop the 'ultimate' classification of movement disorders, and different patterns of lumping and splitting may be useful for the clinician, the pathologist or the geneticist/molecular biologist. Furthermore, certain individual cases with unique features may not fit into any particular category. Continued research by both clinicians and basic scientists is necessary in order to refine and redefine classification schemes of movement disorders.
Topics: Dystonia; Humans; Movement Disorders; Terminology as Topic
PubMed: 15868475
DOI: 10.1007/s10545-005-7495-8 -
Parkinsonism & Related Disorders Jan 2012Psychogenic movement disorders are common, but the diagnosis may be difficult. Visual appearance alone is typically not sufficient to make a diagnosis, but such... (Review)
Review
Psychogenic movement disorders are common, but the diagnosis may be difficult. Visual appearance alone is typically not sufficient to make a diagnosis, but such information is certainly important. That a movement is bizarre can be helpful, but still must be considered thoughtfully since organic movement disorders can have endless variety. The diagnosis should rest on positive findings such as paroxysmal nature, maximum severity at or near onset, variability of tremor direction, frequency and amplitude, entrainment of tremor, distractability and suggestibility, and wildly swaying gait and balance problems with no falling. Psychogenic parkinsonism often poses a problem because of the relatively high frequency of overlap of psychogenic and organic disease. In regard to psychogenic parkinsonism, there are special features to look for. There might be tremor with kinetic movement as well as rest and posture, and finger tremor might be absent. With sequential movements, the sequence effect is typically lacking. Extreme slowness and grunting with great effort may be seen. Improvement in arm swing while running, a feature of organic parkinsonism, may not be seen.
Topics: Animals; Dystonic Disorders; Humans; Movement Disorders; Psychophysiologic Disorders; Somatoform Disorders
PubMed: 22166419
DOI: 10.1016/S1353-8020(11)70048-7 -
European Journal of Internal Medicine Sep 2019Paraneoplastic syndromes include, by definition, any symptomatic and non-metastatic condition associated with a neoplasm. Paraneoplastic movement disorders are a... (Review)
Review
Paraneoplastic syndromes include, by definition, any symptomatic and non-metastatic condition associated with a neoplasm. Paraneoplastic movement disorders are a heterogeneous group of syndromes encompassing both hyperkinetic and hypokinetic conditions, characterized by acute/sub-acute onset, rapidly progressive evolution, and multifocal localizations with several overlapping features. These movement disorders are immune-mediated, as shown by the rapid onset and by the presence of antineuronal antibodies in biological samples of patients, fundamental for the diagnosis. Antineuronal antibodies could be targeted against intracellular or neuronal surface antigens. Paraneoplastic movement disorders associated with anti-neuronal surface antigens antibodies respond more frequently to immunotherapy. The underlying tumors may be different, according to the clinical presentation, age, and gender of patients. Our search considered articles involving human subjects indexed in PubMed. Abstracts were independently reviewed for eligibility criteria by one author and validated by at least one additional author. In this review, we sought to critically reappraise the clinical features and the pathophysiological mechanisms of paraneoplastic movement disorders, focusing on diagnostic and therapeutic strategies. Our main aim is to make clinicians aware of paraneoplastic movement disorders, and to provide assistance in the early diagnosis and management of these rare but life-threatening conditions.
Topics: Algorithms; Humans; Movement Disorders; Paraneoplastic Syndromes, Nervous System
PubMed: 31200996
DOI: 10.1016/j.ejim.2019.05.023 -
The Lancet. Neurology Aug 2006Diagnosis and treatment of psychogenic movement disorders are challenging for both neurologists and psychiatrists. Symptoms can mimic the full range of organic abnormal... (Review)
Review
Diagnosis and treatment of psychogenic movement disorders are challenging for both neurologists and psychiatrists. Symptoms can mimic the full range of organic abnormal involuntary movements, affect gait and speech, or present as unusual undifferentiated movements. Typical clinical characteristics of these disorders are acute onset, fast progression, movement patterns incongruent with organic movement disorders, distractibility, variability, and simultaneous occurrence of various abnormal movements and dysfunctions. Avoidance of iatrogenic damage by unnecessary invasive tests or inappropriate medication, as well as use of appropriate psychiatric treatments are pivotal steps in the management of these disorders. The few clinical trials specific to psychogenic movement disorders focus on antidepressants and psychotherapy. Presence of a comorbid psychiatric diagnosis of depression or an anxiety disorder is a positive prognostic factor, whereas long-standing symptoms, insidious onset of movements, and a psychiatric diagnosis of hypochondriasis, factitious disorder, or malingering are associated with poor outcome.
Topics: Humans; Movement Disorders; Psychophysiologic Disorders; Somatoform Disorders
PubMed: 16857575
DOI: 10.1016/S1474-4422(06)70523-3 -
Child and Adolescent Psychiatric... Oct 1999Movement disorders in children encompass disorders of motor control--both hyperkinetic (excessive movement) and hypokinetic (decreased movement). This article focuses on... (Review)
Review
Movement disorders in children encompass disorders of motor control--both hyperkinetic (excessive movement) and hypokinetic (decreased movement). This article focuses on the hyperkinetic movement disorders, particularly tremor, Wilson's disease, dystonia, tics and Tourette syndrome, chorea, myoclonus, neuroleptic-induced movement disorders, and psychogenic movement disorders. Phenomenology of the disorders as well as clinical presentation, basic pathophysiology, genetics, and treatment are discussed.
Topics: Antipsychotic Agents; Child; Diagnosis, Differential; Genetic Predisposition to Disease; Humans; Infant; Movement Disorders; Somatoform Disorders
PubMed: 10553201
DOI: No ID Found -
Parkinsonism & Related Disorders Jan 2018Infectious diseases remain the most common cause of neurological disability in the world. A number of movement disorders can develop in adults and children in response... (Review)
Review
Infectious diseases remain the most common cause of neurological disability in the world. A number of movement disorders can develop in adults and children in response to infections. These can occur in isolation or as part of a broader neurological illness, with movement abnormalities consequent to an encephalopathy or a broader brain dysfunction. While most infection-related movement disorders are direct consequences of an active infectious process affecting cerebral structures implied in the motor network, at times a delayed immune-mediated process in response to a previous infectious is responsible for the neurological dysfunction. This immunological response can occur as a consequence of a number of pathogens, and develop at variable times after the initial infection. The most common infection-mediated autoimmune movement disorders are chorea, which is especially common in children, and other hyperkinetic disorders, but Parkinsonism and other hypokinetic movement disorders may also occur.
Topics: Autoimmune Diseases; Communicable Diseases; Humans; Movement Disorders
PubMed: 28756176
DOI: 10.1016/j.parkreldis.2017.07.019