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Current Opinion in Neurology Aug 2015This article discusses recent advances in the understanding of clinical and genetic aspects of primary ataxias, including congenital, autosomal recessive, autosomal... (Review)
Review
PURPOSE OF REVIEW
This article discusses recent advances in the understanding of clinical and genetic aspects of primary ataxias, including congenital, autosomal recessive, autosomal dominant, episodic, X-linked, and mitochondrial ataxias, as well as idiopathic degenerative and secondary ataxias.
RECENT FINDINGS
Many important observations have been published in recent years in connection with primary ataxias, particularly new loci and genes. The most commonly inherited ataxias may present with typical and atypical phenotypes. In the group of idiopathic degenerative ataxias, genes have been found in patients with multiple system atrophy type C. Secondary ataxias represent an important group of sporadic, cerebellar, and afferent/sensory ataxias.
SUMMARY
Knowledge of primary ataxias has been growing rapidly in recent years. Here we review different forms of primary ataxia, including inherited forms, which are subdivided into congenital, autosomal recessive cerebellar ataxias, autosomal dominant cerebellar ataxias, episodic ataxias, X-linked ataxias, and mitochondrial ataxias, as well as sporadic ataxias and idiopathic degenerative ataxias. Secondary or acquired ataxias are also reviewed and the most common causes are discussed.
Topics: Ataxia; Humans
PubMed: 26132530
DOI: 10.1097/WCO.0000000000000227 -
Neurologic Clinics Feb 2015The dystonias are a group of disorders characterized by excessive involuntary muscle contractions leading to abnormal postures and/or repetitive movements. A careful... (Review)
Review
The dystonias are a group of disorders characterized by excessive involuntary muscle contractions leading to abnormal postures and/or repetitive movements. A careful assessment of the clinical manifestations is helpful for identifying syndromic patterns that focus diagnostic testing on potential causes. If a cause is identified, specific etiology-based treatments may be available. In most cases, a specific cause cannot be identified, and treatments are based on symptoms. Treatment options include counseling, education, oral medications, botulinum toxin injections, and several surgical procedures. A substantial reduction in symptoms and improved quality of life is achieved in most patients by combining these options.
Topics: Dystonia; Humans
PubMed: 25432724
DOI: 10.1016/j.ncl.2014.09.002 -
Epilepsia Open Apr 2024Myoclonus classically presents as a brief (10-50 ms duration), non-rhythmic jerk movement. The etiology could vary considerably ranging from self-limited to chronic or... (Review)
Review
Myoclonus classically presents as a brief (10-50 ms duration), non-rhythmic jerk movement. The etiology could vary considerably ranging from self-limited to chronic or even progressive disorders, the latter falling into encephalopathic pictures that need a prompt diagnosis. Beyond the etiological classification, others evaluate myoclonus' body distribution (i.e., clinical classification) or the location of the generator (i.e., neurophysiological classification); particularly, knowing the anatomical source of myoclonus gives inputs on the observable clinical patterns, such as EMG bursts duration or EEG correlate, and guides the therapeutic choices. Among all the chronic disorders, myoclonus often presents itself as a manifestation of epilepsy. In this context, myoclonus has many facets. Myoclonus occurs as one, or the only, seizure manifestation while it can also present as a peculiar type of movement disorder; moreover, its electroclinical features within specific genetically determined epileptic syndromes have seldom been investigated. In this review, following a meeting of recognized experts, we provide an up-to-date overview of the neurophysiology and nosology surrounding myoclonus. Through the dedicated exploration of epileptic syndromes, coupled with pragmatic guidance, we aim to furnish clinicians and researchers alike with practical advice for heightened diagnostic management and refined treatment strategies. PLAIN LANGUAGE SUMMARY: In this work, we described myoclonus, a movement characterized by brief, shock-like jerks. Myoclonus could be present in different diseases and its correct diagnosis helps treatment.
Topics: Humans; Myoclonus; Diagnosis, Differential; Movement Disorders; Epilepsy; Epileptic Syndromes
PubMed: 38334331
DOI: 10.1002/epi4.12917 -
Current Neurology and Neuroscience... Feb 2019Functional movement disorders are common and disabling causes of abnormal movement control. Here, we review the current state of the evidence on the use of neuroimaging... (Review)
Review
PURPOSE OF REVIEW
Functional movement disorders are common and disabling causes of abnormal movement control. Here, we review the current state of the evidence on the use of neuroimaging in Functional movement disorders, particularly its role in helping to unravel the pathophysiology of this enigmatic condition.
RECENT FINDINGS
In recent years, there has been a shift in thinking about functional movement disorder, away from a focus on high-level psychological precipitants as in Freudian conversion theories, or even an implicit belief they are 'put-on' for secondary gain. New research has emphasised novel neurobiological models incorporating emotional processing, self-representation and agency. Neuroimaging has provided new insights into functional movement disorders, supporting emerging neurobiological theories implicating dysfunctional emotional processing, self-image and sense of agency. Recent studies have also found subtle structural brain changes in patients with functional disorders, arguing against a strict functional/structural dichotomy.
Topics: Brain; Dyskinesias; Humans; Movement Disorders; Neuroimaging
PubMed: 30747347
DOI: 10.1007/s11910-019-0926-y -
Tremor and Other Hyperkinetic Movements... 2023Functional movement disorders (FMD) are a diagnostic and therapeutic challenge, both to the neurologist and psychiatrists. The phenomenology is varied and can present as... (Review)
Review
BACKGROUND
Functional movement disorders (FMD) are a diagnostic and therapeutic challenge, both to the neurologist and psychiatrists. The phenomenology is varied and can present as tremors, dystonia, jerks/myoclonus, gait disorder, other abnormal movements or a combination. There has been an increase in the use of electrophysiological studies that are an important tool in the evaluation of FMDs.
METHODS
We searched the database platforms of MEDLINE, Google scholar, Web of Sciences, Scopus using the Medical Subject Heading terms (MeSH) for all the articles from 1st January 1970 till November 2022. A total of 658 articles were obtained by the search mechanism. A total of 79 relevant articles were reviewed thoroughly, of which 26 articles that had electrophysiological data were included in the present review.
RESULTS
Variability, distractibility and entertainability can be demonstrated in functional tremors by using multichannel surface electromyography. Voluntary ballistic movements tend to decrease the tremor, while loading the tremulous limb with weight causes the tremor amplitude to increase in functional tremor. Presence of Bereitschaftspotential demonstrates the functional nature of palatal tremor and myoclonus. Co-contraction testing may be helpful in differentiating functional from organic dystonia. The R2 blink reflex recovery cycle has been found to be abnormally enhanced in organic blepharospasm, whereas it is normal in presumed functional blepharospasm. Plasticity is found to be abnormally high in organic dystonia and normal in functional dystonia, in addition to enhanced facilitation in patients with organic dystonia.
CONCLUSIONS
Electrophysiological tests supplement clinical examination and helps in differentiating FMD from organic movement disorders.
Topics: Humans; Tremor; Myoclonus; Dystonia; Blepharospasm; Movement Disorders; Dystonic Disorders; Electrophysiology; Conversion Disorder
PubMed: 38162980
DOI: 10.5334/tohm.793 -
Pediatrics in Review Mar 2015On the basis of some research evidence and consensus, identification of acute opsoclonus, ataxia, or myoclonus should prompt consideration of an underlying...
On the basis of some research evidence and consensus, identification of acute opsoclonus, ataxia, or myoclonus should prompt consideration of an underlying neuroblastoma. On the basis of some research evidence and consensus, surgical treatment options should be considered for children with dystonia, including secondary dystonias, such as those related to cerebral palsy, and include intrathecal baclofen pumps and deep brain stimulation. On the basis of some research evidence and clinical experience, tetrabenazine may be effective in treating chorea. On the basis of strong research evidence, although seldom inherently dangerous, tics may be uncomfortable for affected children and interfere with academic achievement and social development. On the basis of some research evidence and clinical experience, topiramate may be an effective treatment for tic disorders.
Topics: Adolescent; Child; Developmental Disabilities; Dyskinesias; Humans; Male; Movement Disorders; Pediatrics
PubMed: 25733762
DOI: 10.1542/pir.36-3-104 -
Neurology India 2018
Topics: Adenylyl Cyclases; Child; DNA Mutational Analysis; Dyskinesias; Humans; Male; Mutation, Missense
PubMed: 29503338
DOI: 10.4103/0028-3886.226449 -
Neurology India 2020Deep brain stimulation (DBS) is the most commonly used surgical treatment for drug-refractory movement disorders such as tremor and dystonia. Appropriate patient... (Review)
Review
Deep brain stimulation (DBS) is the most commonly used surgical treatment for drug-refractory movement disorders such as tremor and dystonia. Appropriate patient selection along with target selection is important to ensure optimal outcome without complications. This review summarizes the recent literature regarding the mechanism of action, indications, outcome, and complications of DBS in tremor and dystonia. A comparison with other modalities of surgical interventions is discussed along with a note of the recent advances in technology. Future research needs to be directed to understand the underlying etiopathogenesis of the disease and the way in which DBS modulates the intracranial abnormal networks.
Topics: Deep Brain Stimulation; Dystonia; Dystonic Disorders; Humans; Movement Disorders; Tremor
PubMed: 33318349
DOI: 10.4103/0028-3886.302472 -
Journal of Parkinson's Disease 2019
Review
Topics: Antiparkinson Agents; Clinical Trials as Topic; Dyskinesia, Drug-Induced; Dyskinesias; Humans; Levodopa; Parkinson Disease
PubMed: 31356217
DOI: 10.3233/JPD-199002 -
Seminars in Neurology Feb 2023A variety of etiologies can cause cerebellar dysfunction, leading to ataxia symptoms. Therefore, the accurate diagnosis of the cause for cerebellar ataxia can be...
A variety of etiologies can cause cerebellar dysfunction, leading to ataxia symptoms. Therefore, the accurate diagnosis of the cause for cerebellar ataxia can be challenging. A step-wise investigation will reveal underlying causes, including nutritional, toxin, immune-mediated, genetic, and degenerative disorders. Recent advances in genetics have identified new genes for both autosomal dominant and autosomal recessive ataxias, and new therapies are on the horizon for targeting specific biological pathways. New diagnostic criteria for degenerative ataxias have been proposed, specifically for multiple system atrophy, which will have a broad impact on the future clinical research in ataxia. In this article, we aim to provide a review focus on symptoms, laboratory testing, neuroimaging, and genetic testing for the diagnosis of cerebellar ataxia causes, with a special emphasis on recent advances. Strategies for the management of cerebellar ataxia is also discussed.
Topics: Humans; Cerebellar Ataxia; Ataxia; Genetic Testing; Multiple System Atrophy; Neuroimaging
PubMed: 36828010
DOI: 10.1055/s-0043-1763511