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Psychiatry and Clinical Neurosciences Dec 2021This systematic review identified and thematically appraised clinical evidence of movement disorders in patients with Rett syndrome (RTT). (Review)
Review
AIM
This systematic review identified and thematically appraised clinical evidence of movement disorders in patients with Rett syndrome (RTT).
METHOD
Using PRISMA criteria, six electronic databases were searched from inception to April 2021. A thematic analysis was then undertaken on the extracted data to identify potential themes.
RESULTS
Following the thematic analysis, six themes emerged: (i) clinical features of abnormal movement behaviors; (ii) mutational profile and its impact on movement disorders; (iii) symptoms and stressors that impact on movement disorders; (iv) possible underlying neurobiological mechanisms; (v) quality of life and movement disorders; and (vi) treatment of movement disorders. Current guidelines for managing movement disorders in general were then reviewed to provide possible treatment recommendations for RTT.
CONCLUSION
Our study offers an enriched data set for clinical investigations and treatment of fine and gross motor issues in RTT. A detailed understanding of genotype-phenotype relationships of movement disorders allows for more robust genetic counseling for families but can also assist healthcare professionals in terms of monitoring disease progression in RTT. The synthesis also showed that environmental enrichment would be beneficial for improving some aspects of movement disorders. The cerebellum, basal ganglia, alongside dysregulation of the cortico-basal ganglia-thalamo-cortical loop, are likely anatomical targets. A review of treatments for movement disorders also helped to provide recommendations for treating and managing movement disorders in patients with RTT.
Topics: Animals; Humans; Movement Disorders; Mutation; Quality of Life; Rett Syndrome
PubMed: 34472659
DOI: 10.1111/pcn.13299 -
Tijdschrift Voor Psychiatrie 2015Psychogenic movement disorders are movement disorders that are the result of a psychiatric rather than a primary neurological disorder. Some authors prefer the term... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Psychogenic movement disorders are movement disorders that are the result of a psychiatric rather than a primary neurological disorder. Some authors prefer the term 'functional movement disorder'.
AIM
To discuss the nosology, clinical signs, diagnosis and treatment of psychogenic movement disorders.
METHOD
We discuss recent, selected literature.
RESULTS
Patients with psychogenic movement disorders have debilitating symptoms that can lead to long-term disability. Often such patients are diagnosed with 'conversion disorder'. There is evidence that stress can interfere with motor functioning by affecting centres that are involved in planning and action monitoring. These patients need structured and multidisciplinary treatment supported by neurological and psychiatric follow-up. Cognitive behavioral therapy and low-frequency transcranial magnetic stimulation have a limited effect.
CONCLUSION
Psychogenic movement disorders and conversion disorders have features in common. There is evidence that cognitive behavioral therapy has beneficial effects, but the prognosis remains poor.
Topics: Cognitive Behavioral Therapy; Humans; Movement Disorders; Prognosis; Transcranial Magnetic Stimulation; Treatment Outcome
PubMed: 25669947
DOI: No ID Found -
Progress in Neurological Surgery 2018Deep brain stimulation (DBS) has markedly changed how we treat movement disorders including Parkinson's disease (PD), dystonia, and essential tremor (ET). However,... (Review)
Review
Deep brain stimulation (DBS) has markedly changed how we treat movement disorders including Parkinson's disease (PD), dystonia, and essential tremor (ET). However, despite its demonstrable clinical benefit, DBS is often limited by side effects and partial efficacy. These limitations may be due in part to the fact that DBS interferes with both pathological and physiological neural activities. DBS could, therefore, be potentially improved were it applied selectively and only at times of enhanced pathological activity. This form of stimulation is known as closed-loop or adaptive DBS (aDBS). An aDBS approach has been shown to be superior to conventional DBS in PD in primates using cortical neuronal spike triggering and in humans employing local field potential biomarkers. Likewise, aDBS studies for essential and Parkinsonian tremor are advancing and show great promise, using both peripheral or central sensing and stimulation. aDBS has not yet been trialed in dystonia and yet exciting and promising biomarkers suggest it could be beneficial here too. In this chapter, we will review the existing literature on aDBS in movement disorders and explore potential biomarkers and stimulation algorithms for applying aDBS in PD, ET, and dystonia.
Topics: Animals; Deep Brain Stimulation; Dystonic Disorders; Essential Tremor; Humans; Parkinson Disease
PubMed: 29332087
DOI: 10.1159/000481107 -
Parkinsonism & Related Disorders Sep 2023The human immunodeficiency virus (HIV) causes movement disorders in persons living with HIV (PLH). (Review)
Review
BACKGROUND
The human immunodeficiency virus (HIV) causes movement disorders in persons living with HIV (PLH).
OBJECTIVES AND METHODS
We conducted a systematic review on the spectrum of movement disorders in PLH using standard terms for each of the phenomenologies and HIV.
RESULTS
Movement disorders in PLH were commonly attributed to opportunistic infections (OI), dopamine receptor blockade reactions, HIV-associated dementia (HAD), presented during seroconversion, developed due to drug reactions or antiretroviral therapy (ART) itself and lastly, movement disorders occurred as a consequence of the HIV-virus. Parkinsonism in ART naïve PLH was associated with shorter survival, however when Parkinsonism presented in PLH on ART, the syndrome was indistinguishable from Idiopathic Parkinson's disease and responded to therapy. Tremor was often postural due to HAD, drugs or OI. Generalized chorea was most frequent in HIV encephalopathy and toxoplasmosis gondii caused most cases of hemichorea. Ataxia was strongly associated with JCV infection, ART efavirenz toxicity or due to HIV itself. Dystonia was reported in HAD, secondary to drugs and atypical facial dystonias. Both cortical/subcortical and segmental/spinal origin myoclonus were noted mainly associated with HAD. In patients with HIV related opsoclonus-myoclonus-ataxia-syndrome, seroconversion illness was the commonest cause of followed by IRIS and CSF HIV viral escape phenomenon.
CONCLUSIONS
Aetiology of movement disorders in PLH depend on the treatment state. Untreated, PLH are prone to develop OI and HAD and movement disorders. However, as the number of PLH on ART increase and survive longer, the frequency of ART and non-AIDS related complications are likely to increase.
Topics: Humans; HIV; Myoclonus; Movement Disorders; HIV Infections; Parkinson Disease; Parkinsonian Disorders; Ataxia
PubMed: 37532621
DOI: 10.1016/j.parkreldis.2023.105774 -
Neurobiology of Disease Dec 2022Deep brain stimulation (DBS) conventionally target at basal ganglia or thalamic structures, modulating nodal points in the cortico-basal ganglia circuit, in order to... (Review)
Review
Deep brain stimulation (DBS) conventionally target at basal ganglia or thalamic structures, modulating nodal points in the cortico-basal ganglia circuit, in order to effectively treat various movement disorders, including Parkinson's disease, tremor and dystonia (especially mobile type dystonia). However, there are still some other movement disorders, such as dystonia (especially fixed type dystonia), ataxia and freezing of gait, which are not responding well to the current DBS therapy. Cerebellum, similar to basal ganglia, also plays a critical role in the pathophysiology of movement disorders. Deep cerebellar structures, such as dentate nucleus or superior cerebellar peduncle, are noticed for their potential role as treatment targets in movement disorders in recent years. With increasing evidences of animal DBS experiments, recent clinical human subject studies reported that some movement disorders patients not responding to DBS with conventional targets, may benefit significantly from cerebellar DBS. These pioneer study results are invaluable for understanding the clinical use of cerebellar DBS for treatment of movement disorders. We review the recent data of cerebellar DBS performed by different groups and summarize the indications, surgical targets, programming details and outcomes in these clinical reports. We then synthesize the current pathophysiological study of cerebellum on different movement disorders and discuss the potential mechanism of action of cerebellar DBS. In addition to basal ganglia, it is important to study new DBS targets in the cerebellum for more comprehensive treatment of movement disorders.
Topics: Animals; Humans; Deep Brain Stimulation; Dystonia; Parkinson Disease; Gait Disorders, Neurologic; Movement Disorders; Cerebellum; Dystonic Disorders
PubMed: 36265768
DOI: 10.1016/j.nbd.2022.105899 -
Developmental Medicine and Child... Aug 2021Increasingly effective targeted precision medicine is either already available or in development for a number of genetic childhood movement disorders. Patient-centred,... (Review)
Review
Increasingly effective targeted precision medicine is either already available or in development for a number of genetic childhood movement disorders. Patient-centred, personalized approaches include the repurposing of existing treatments for specific conditions and the development of novel therapies that target the underlying genetic defect or disease mechanism. In tandem with these scientific advances, close collaboration between clinicians, researchers, affected families, and stakeholders in the wider community will be key to successfully delivering such precision therapies to children with movement disorders. What this paper adds Precision medicine for genetic childhood movement disorders is developing rapidly. Accurate diagnosis, disease-specific outcome measures, and collaborative multidisciplinary work will accelerate the progress of such strategies.
Topics: Child; Humans; Mass Screening; Movement Disorders; Precision Medicine
PubMed: 33763868
DOI: 10.1111/dmcn.14869 -
Continuum (Minneapolis, Minn.) Oct 2013This review describes the main clinical features of psychogenic (functional) movement disorders and reports recent advances in diagnosis, pathophysiology, and treatment. (Review)
Review
PURPOSE OF REVIEW
This review describes the main clinical features of psychogenic (functional) movement disorders and reports recent advances in diagnosis, pathophysiology, and treatment.
RECENT FINDINGS
The terminology and definition of patients with psychogenic movement disorders remain subjects of controversy; the term "functional" has been used more frequently in the literature in recent years regarding the neurobiological substrate underpinning these disorders. Correct diagnosis of psychogenic movement disorders should rely not on the exclusion of organic disorders or the sole presence of psychological factors but on the observation or elicitation of clinical features related to the specific movement disorder (ie, a positive or inclusionary rather than exclusionary diagnosis). Sudden onset, spontaneous remissions, and variability over time or during clinical examination are useful "red flags" suggestive of a psychogenic movement disorder. Imaging studies have demonstrated impaired connectivity between limbic and motor areas involved in movement programming and hypoactivity of a brain region that compares expected data with actual sensory data occurring during voluntary movement. Treatment of psychogenic movement disorders begins with ensuring the patient's acceptance of the diagnosis during the initial debriefing and includes nonpharmacologic (cognitive-behavioral therapy, physiotherapy) and pharmacologic options.
SUMMARY
Psychogenic movement disorders represent a challenging disorder for neurologists to diagnose and treat. Recent advances have increased understanding of the neurobiological mechanism of psychogenic movement disorders. Treatment with cognitive strategies and physical rehabilitation can benefit some patients. As short duration of disease correlates with better prognosis, early diagnosis and initiation of treatment are critical.
Topics: Adult; Cognitive Behavioral Therapy; Early Diagnosis; Female; Gait Disorders, Neurologic; Hemifacial Spasm; Humans; Male; Middle Aged; Movement Disorders; Neurologic Examination; Psychotherapy, Psychodynamic; Tremor; Truth Disclosure
PubMed: 24092294
DOI: 10.1212/01.CON.0000436160.41071.79 -
Current Neurology and Neuroscience... Nov 2013The neurobiological basis of psychogenic movement disorders (PMDs) has been elusive, and they remain difficult to treat. In the last few years, functional neuroimaging... (Review)
Review
The neurobiological basis of psychogenic movement disorders (PMDs) has been elusive, and they remain difficult to treat. In the last few years, functional neuroimaging studies have provided insight into their pathophysiology and neural correlates. Here, we review the various methodological approaches that have been used in both clinical and research practice to address neural correlates of functional disorders. We then review the dominant hypotheses generated from the literature on psychogenic paralysis. Overall, these studies emphasize abnormalities in the prefrontal and anterior cingulate cortices. Recently, functional neuroimaging has been used to specifically examine PMDs. These studies have addressed a major point of controversy: whether higher frontal brain areas are directly responsible for inhibiting motor areas or whether they reflect modulation by attentional and/or emotional processes. In addition to elucidating the mechanism and cause, recent work has also explored the lack of agency that characterizes PMDs. We describe the results and implications of the results of these imaging studies and discuss possible interpretations.
Topics: Animals; Diagnostic Imaging; Dystonic Disorders; Humans; Movement Disorders; Positron-Emission Tomography; Psychophysiologic Disorders; Tomography, Emission-Computed, Single-Photon
PubMed: 24057974
DOI: 10.1007/s11910-013-0402-z -
Orphanet Journal of Rare Diseases Dec 2020GNAO1 encephalopathy is a rare neurodevelopmental disorder characterized by distinct movement presentations and early onset epileptic encephalopathy. Here, we report the...
BACKGROUND
GNAO1 encephalopathy is a rare neurodevelopmental disorder characterized by distinct movement presentations and early onset epileptic encephalopathy. Here, we report the in-depth phenotyping of genetically confirmed patients with GNAO1 encephalopathy, focusing on movement presentations.
RESULTS
Six patients who participated in Korean Undiagnosed Disease Program were diagnosed to have pathogenic or likely pathogenic variants in GNAO1 using whole exome sequencing. All medical records and personal video clips were analyzed with a literature review. Three of the 6 patients were male. Median follow-up duration was 41 months (range 7-78 months) and age at last examination was 7.4 years (range 3.3-16.9 years). Initial complaints were hypotonia or developmental delay in 5 and right-hand clumsiness in 1 patient, which were noticed at median age of 3 months (range 0-75 months). All patients showed global developmental delay and 4 had severely retarded development. Five patients (5/6, 83.3%) had many different movement symptoms with various onset and progression. The symptoms included stereotyped hands movement, non-epileptic myoclonus, dyskinesia, dystonia and choreoathetosis. Whole exome sequencing identified 6 different variants in GNAO1. Three were novel de novo variants and atypical presentation was noted in a patient. One variant turned out to be inherited from patient's mother who had mosaic variant. Distinct and characteristics movement phenotypes in patients with variant p.Glu246Lys and p.Arg209His were elucidated by in-depth phenotyping and literature review.
CONCLUSIONS
We reported 6 patients with GNAO1 encephalopathy showing an extremely diverse clinical spectrum on video. Some characteristic movement features identified by careful inspection may also provide important diagnostic insight and practice guidelines.
Topics: Adolescent; Brain Diseases; Child; Child, Preschool; Dystonia; Female; GTP-Binding Protein alpha Subunits, Gi-Go; Humans; Infant; Infant, Newborn; Male; Movement Disorders; Neurodevelopmental Disorders
PubMed: 33298085
DOI: 10.1186/s13023-020-01594-3 -
Neurology India 2019Posttraumatic movement disorders (PTMDs) are frequently associated with severe head injury. There are very few studies on the clinical phenomenology and radiological...
BACKGROUND
Posttraumatic movement disorders (PTMDs) are frequently associated with severe head injury. There are very few studies on the clinical phenomenology and radiological correlation of PTMD.
AIMS
To study the clinical phenomenology of patients with PTMD and correlate it with the site of lesion on brain imaging.
MATERIALS AND METHODS
This was a prospective study of patients with suspected PTMD. All of these patients underwent neurological evaluation to characterize the phenomenology and imaging, such as computed tomography/magnetic resonance imaging (CT/MRI), to localize the site of lesion.
RESULTS
The age of the patients was 32.6 ± 16.4 years and the age at onset was 29.1 ± 16.0 years. Right upper limb was the initial body part affected in 36.7% patients. Tremor (alone or with dystonia) was the most common movement disorder (MD; 44.7%) followed by parkinsonism (17.2%), dystonia (13.8%), dystonia plus (dystonia associated with choreoathetosis: 10.3%), mixed MD (more than one MD: 10.3%), and myoclonus (3.4%). MRI was performed in 23 patients and the rest seven patients underwent CT brain. Normal MRI was observed in one patient with parkinsonism. Isolated, discrete lesions were found in six (27.3%) patients. Basal ganglia was the most common site of involvement (66.7%) followed by thalamus (16.7%) and brainstem (16.7%). Diffuse white matter involvement was the most common radiological lesion in patients with tremor.
CONCLUSIONS
Our study describes the clinical phenomenology of patients with PTMDs and its radiological correlation. Tremor (alone or in combination with dystonia) was the most common MD observed and diffuse white matter lesions without affection of the basal ganglia was the most common site of lesion.
Topics: Adult; Brain; Brain Injuries, Traumatic; Craniocerebral Trauma; Female; Humans; Male; Movement Disorders; Prospective Studies
PubMed: 31347546
DOI: 10.4103/0028-3886.263212