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Translational Neurodegeneration Feb 2021Paroxysmal dyskinesias are a group of neurological diseases characterized by intermittent episodes of involuntary movements with different causes. Paroxysmal kinesigenic... (Review)
Review
Paroxysmal dyskinesias are a group of neurological diseases characterized by intermittent episodes of involuntary movements with different causes. Paroxysmal kinesigenic dyskinesia (PKD) is the most common type of paroxysmal dyskinesia and can be divided into primary and secondary types based on the etiology. Clinically, PKD is characterized by recurrent and transient attacks of involuntary movements precipitated by a sudden voluntary action. The major cause of primary PKD is genetic abnormalities, and the inheritance pattern of PKD is mainly autosomal-dominant with incomplete penetrance. The proline-rich transmembrane protein 2 (PRRT2) was the first identified causative gene of PKD, accounting for the majority of PKD cases worldwide. An increasing number of studies has revealed the clinical and genetic characteristics, as well as the underlying mechanisms of PKD. By seeking the views of domestic experts, we propose an expert consensus regarding the diagnosis and treatment of PKD to help establish standardized clinical evaluation and therapies for PKD. In this consensus, we review the clinical manifestations, etiology, clinical diagnostic criteria and therapeutic recommendations for PKD, and results of genetic analyses in PKD patients performed in domestic hospitals.
Topics: China; Chorea; Consensus; Dystonia; Humans; Membrane Proteins; Nerve Tissue Proteins
PubMed: 33588936
DOI: 10.1186/s40035-021-00231-8 -
CNS Spectrums Apr 2022Accurate diagnosis and appropriate treatment of tardive dyskinesia (TD) are imperative, as its symptoms can be highly disruptive to both patients and their caregivers.... (Review)
Review
Accurate diagnosis and appropriate treatment of tardive dyskinesia (TD) are imperative, as its symptoms can be highly disruptive to both patients and their caregivers. Misdiagnosis can lead to incorrect interventions with suboptimal or even deleterious results. To aid in the identification and differentiation of TD in the psychiatric practice setting, we review its clinical features and movement phenomenology, as well as those of other antipsychotic-induced movement disorders, with accompanying links to illustrative videos. Exposure to dopamine receptor blocking agents (DRBAs) such as antipsychotics or antiemetics is associated with a spectrum of movement disorders including TD. The differential diagnosis of TD is based on history of DRBA exposure, recent discontinuation or dose reduction of a DRBA, and movement phenomenology. Common diagnostic challenges are the abnormal behaviors and dyskinesias associated with advanced age or chronic mental illness, and other movement disorders associated with DRBA therapy, such as akathisia, parkinsonian tremor, and tremor related to use of mood stabilizing agents (eg, lithium, divalproex). Duration of exposure may help rule out acute drug-induced syndromes such as acute dystonia or acute/subacute akathisia. Another important consideration is the potential for TD to present together with other drug-induced movement disorders (eg, parkinsonism, parkinsonian tremor, and postural tremor from mood stabilizers) in the same patient, which can complicate both diagnosis and management. After documentation of the phenomenology, severity, and distribution of TD movements, treatment options should be reviewed with the patient and caregivers.
Topics: Antipsychotic Agents; Humans; Movement Disorders; Psychomotor Agitation; Tardive Dyskinesia; Tremor
PubMed: 33213556
DOI: 10.1017/S109285292000200X -
The New England Journal of Medicine Feb 2023Unilateral focused ultrasound ablation of the internal segment of globus pallidus has reduced motor symptoms of Parkinson's disease in open-label studies. (Randomized Controlled Trial)
Randomized Controlled Trial
BACKGROUND
Unilateral focused ultrasound ablation of the internal segment of globus pallidus has reduced motor symptoms of Parkinson's disease in open-label studies.
METHODS
We randomly assigned, in a 3:1 ratio, patients with Parkinson's disease and dyskinesias or motor fluctuations and motor impairment in the off-medication state to undergo either focused ultrasound ablation opposite the most symptomatic side of the body or a sham procedure. The primary outcome was a response at 3 months, defined as a decrease of at least 3 points from baseline either in the score on the Movement Disorders Society-Unified Parkinson's Disease Rating Scale, part III (MDS-UPDRS III), for the treated side in the off-medication state or in the score on the Unified Dyskinesia Rating Scale (UDysRS) in the on-medication state. Secondary outcomes included changes from baseline to month 3 in the scores on various parts of the MDS-UPDRS. After the 3-month blinded phase, an open-label phase lasted until 12 months.
RESULTS
Of 94 patients, 69 were assigned to undergo ultrasound ablation (active treatment) and 25 to undergo the sham procedure (control); 65 patients and 22 patients, respectively, completed the primary-outcome assessment. In the active-treatment group, 45 patients (69%) had a response, as compared with 7 (32%) in the control group (difference, 37 percentage points; 95% confidence interval, 15 to 60; P = 0.003). Of the patients in the active-treatment group who had a response, 19 met the MDS-UPDRS III criterion only, 8 met the UDysRS criterion only, and 18 met both criteria. Results for secondary outcomes were generally in the same direction as those for the primary outcome. Of the 39 patients in the active-treatment group who had had a response at 3 months and who were assessed at 12 months, 30 continued to have a response. Pallidotomy-related adverse events in the active-treatment group included dysarthria, gait disturbance, loss of taste, visual disturbance, and facial weakness.
CONCLUSIONS
Unilateral pallidal ultrasound ablation resulted in a higher percentage of patients who had improved motor function or reduced dyskinesia than a sham procedure over a period of 3 months but was associated with adverse events. Longer and larger trials are required to determine the effect and safety of this technique in persons with Parkinson's disease. (Funded by Insightec; ClinicalTrials.gov number, NCT03319485.).
Topics: Humans; Dyskinesias; Globus Pallidus; Parkinson Disease; Treatment Outcome; High-Intensity Focused Ultrasound Ablation
PubMed: 36812432
DOI: 10.1056/NEJMoa2202721 -
Seminars in Pediatric Neurology Apr 2018Paroxysmal dyskinesias (PD) are hyperkinetic movement disorders where patients usually retain consciousness. Paroxysmal dyskinesias can be kinesigenic (PKD),... (Review)
Review
Paroxysmal dyskinesias (PD) are hyperkinetic movement disorders where patients usually retain consciousness. Paroxysmal dyskinesias can be kinesigenic (PKD), nonkinesigenic (PNKD), and exercise induced (PED). These are usually differentiated from each other based on their phenotypic and genotypic characteristics. Genetic causes of PD are continuing to be discovered. Genes found to be involved in the pathogenesis of PD include MR-1, PRRT2, SLC2A1, and KCNMA1. The differential diagnosis is broad as PDs can mimic psychogenic events, seizure, or other movement disorders. This review also includes secondary causes of PDs, which can range from infections, metabolic, structural malformations to malignancies. Treatment is usually based on the correct identification of type of PD. PKD responds well to antiepileptic medications, whereas PNKD and PED respond to avoidance of triggers and exercise, respectively. In this article, we review the classification, clinical features, genetics, differential diagnosis, and management of PD.
Topics: Chorea; Humans
PubMed: 29735119
DOI: 10.1016/j.spen.2017.12.007 -
Neurologic Clinics Feb 2015Paroxysmal dyskinesias represent a group of episodic abnormal involuntary movements manifested by recurrent attacks of dystonia, chorea, athetosis, or a combination of... (Review)
Review
Paroxysmal dyskinesias represent a group of episodic abnormal involuntary movements manifested by recurrent attacks of dystonia, chorea, athetosis, or a combination of these disorders. Paroxysmal kinesigenic dyskinesia, paroxysmal nonkinesigenic dyskinesia, paroxysmal exertion-induced dyskinesia, and paroxysmal hypnogenic dyskinesia are distinguished clinically by precipitating factors, duration and frequency of attacks, and response to medication. Primary paroxysmal dyskinesias are usually autosomal dominant genetic conditions. Secondary paroxysmal dyskinesias can be the symptoms of different neurologic and medical disorders. This review summarizes the updates on etiology, pathophysiology, genetics, clinical presentation, differential diagnosis, and treatment of paroxysmal dyskinesias and other episodic movement disorders.
Topics: Dyskinesias; Humans; Movement Disorders
PubMed: 25432727
DOI: 10.1016/j.ncl.2014.09.014 -
Zhurnal Nevrologii I Psikhiatrii Imeni... 2023Tardive dyskinesia (TD) is a delayed, often irreversible iatrogenic movement disorder caused by long-term use of that dopamine receptors blocking drugs. Prevention of TD...
Tardive dyskinesia (TD) is a delayed, often irreversible iatrogenic movement disorder caused by long-term use of that dopamine receptors blocking drugs. Prevention of TD is paramount, and clinicians should follow best practice recommendations for prescribing antipsychotics, as well as reduction the using of dopamine receptor blocking drugs for non-psychiatric prescriptions. Replacement of antipsychotics with lower affinity for D2 receptors drugs, addition of VMAT2 (tetrabenazine), botulinum therapy, amantadine may be effective. In detection and incurable cases, the possibility of neuromodulation of brain structures should be considered. Most methods for testing TD currently have an insufficient level of evidence, although they include recommendations from professional communities. There is a great need for new clinical trials.
Topics: Humans; Tardive Dyskinesia; Antipsychotic Agents; Tetrabenazine; Amantadine
PubMed: 37490662
DOI: 10.17116/jnevro202312307125 -
Arquivos de Neuro-psiquiatria Apr 2020
Topics: Antiparkinson Agents; Dyskinesia, Drug-Induced; Dyskinesias; Humans; Levodopa; Parkinson Disease
PubMed: 32321051
DOI: 10.1590/0004-282X20200023 -
Neurologic Clinics May 2020Paroxysmal dyskinesia (PxD) is a heterogeneous group of syndromes characterized by recurrent attacks of abnormal movements, triggered by detectable factors, without loss... (Review)
Review
Paroxysmal dyskinesia (PxD) is a heterogeneous group of syndromes characterized by recurrent attacks of abnormal movements, triggered by detectable factors, without loss of consciousness. According to the precipitating factors, they are classified as paroxysmal kinesigenic dyskinesia (PKD), paroxysmal non-kinesigenic dyskinesia (PNKD), and paroxysmal exercise-induced dystonia (PED). PxD treatment is based on the combination of nonpharmacologic and pharmacologic approaches. Pharmacologic and nonpharmacologic treatments effective for PNKD and PED also are available. In PxD refractory to conventional treatment, surgery might be an alternative therapeutic option. The course of PRRT2-PKD and MR-1-PNKD is benign, and treatment might not be needed with advancing age.
Topics: Dystonia; Female; Humans; Male
PubMed: 32279719
DOI: 10.1016/j.ncl.2020.01.007 -
Neurology India 2023
Topics: Humans; Dyskinesias; Chorea; Diabetes Mellitus
PubMed: 37148098
DOI: 10.4103/0028-3886.375388 -
Tidsskrift For Den Norske Laegeforening... Mar 2019
Topics: Aged, 80 and over; Cerebral Infarction; Chorea; Dyskinesias; Female; Humans
PubMed: 30872840
DOI: 10.4045/tidsskr.18.0779