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Clinical Autonomic Research : Official... Aug 2021Dyskinesia-hyperpyrexia syndrome (DHS) is a rare but life-threatening disease. The clinical manifestations of this syndrome overlap substantially with Parkinson... (Review)
Review
PURPOSE
Dyskinesia-hyperpyrexia syndrome (DHS) is a rare but life-threatening disease. The clinical manifestations of this syndrome overlap substantially with Parkinson hyperpyrexia syndrome and serotonin syndrome and are often confused by clinicians. The purpose of this review was to enable clinicians to recognize this syndrome and thereby reach a correct diagnosis and provide optimal treatments to improve prognosis in clinical practice.
METHODS
Using the methodology described in the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) statement, we conducted a literature search of the PubMed, Embase, and MEDLINE databases using keywords in titles and abstracts of published literature. Quality assessment was performed using the modified Newcastle-Ottawa scale.
RESULTS
A total of 11 patients obtained from nine publications were included in this systematic review. All of the cases occurred in patients with advanced Parkinson's disease (PD) of long disease duration. High ambient temperature was the most common trigger of this syndrome. Hyperpyrexia and dyskinesias were present in all cases. The consciousness disturbances of this syndrome included confusion, hallucination, and lethargy or stupor. Autonomic dysfunction (except for hyperpyrexia) is uncommon in DHS, and only two patients presented with tachycardia. The treatment of this syndrome included supportive interventions (including rehydration, anti-pyretic and anti-infection treatments, and maintaining electrolyte balance), dopaminergic drug reduction and sedation. Two patients died due to DHS.
CONCLUSIONS
We summarized the triggers, clinical features, and treatments of all reported dyskinesia-hyperpyrexia syndrome cases, proposed guiding diagnostic criteria, and established a flow chart to guide diagnoses to quickly identify these three syndromes in clinical practice.
Topics: Dyskinesias; Humans; Parkinson Disease; Syndrome
PubMed: 33826041
DOI: 10.1007/s10286-021-00801-w -
Experimental Neurology May 2022Gamma oscillations comprise a loosely defined, heterogeneous group of functionally different activities between 30 and 100 Hz in the cortical and subcortical local... (Review)
Review
Gamma oscillations comprise a loosely defined, heterogeneous group of functionally different activities between 30 and 100 Hz in the cortical and subcortical local field potential (LFP) of the motor network. Two distinct patterns seem to emerge which are easily conflated: Finely-tuned gamma (FTG) oscillations - a narrowband activity with peaks between 60 and 90 Hz - have been observed in multiple movement disorders and are induced by dopaminergic medication or deep brain stimulation (DBS). FTG has been linked with levodopa or DBS-induced dyskinesias, which makes it a putative biomarker for adaptive DBS. On the other hand, gamma activity can also present as a broad phenomenon (30-100 Hz) in the context of motor activation and dynamic processing. Here, we contrast FTG, either levodopa-induced or DBS-induced, from movement-related broadband gamma synchronisation and further elaborate on the functional role of FTG and its potential implications for adaptive DBS. Given the unclear distinction of FTG and broad gamma in literature, we appeal for more careful separation of the two. To better characterise cortical and subcortical FTG as biomarkers for dyskinesia, their sensitivity and specificity need to be investigated in a large clinical trial.
Topics: Deep Brain Stimulation; Dyskinesias; Humans; Levodopa
PubMed: 35143832
DOI: 10.1016/j.expneurol.2022.113999 -
European Journal of Paediatric... Jan 2022The high prevalence of mixed phenotypes of Early Onset Ataxia (EOA) with comorbid dystonia has shifted the pathogenetic concept from the cerebellum towards the... (Review)
Review
BACKGROUND
The high prevalence of mixed phenotypes of Early Onset Ataxia (EOA) with comorbid dystonia has shifted the pathogenetic concept from the cerebellum towards the interconnected cerebellar motor network. This paper on EOA with comorbid dystonia (EOA-dystonia) explores the conceptual relationship between the motor phenotype and the cortico-basal-ganglia-ponto-cerebellar network.
METHODS
In EOA-dystonia, we reviewed anatomic-, genetic- and biochemical-studies on the comorbidity between ataxia and dystonia.
RESULTS
In a clinical EOA cohort, the prevalence of dystonia was over 60%. Both human and animal studies converge on the underlying role for the cortico-basal-ganglia-ponto-cerebellar network. Genetic -clinical and -in silico network studies reveal underlying biological pathways for energy production and neural signal transduction.
CONCLUSIONS
EOA-dystonia phenotypes are attributable to the cortico-basal-ganglia-ponto-cerebellar network, instead of to the cerebellum, alone. The underlying anatomic and pathogenetic pathways have clinical implications for our understanding of the heterogeneous phenotype, neuro-metabolic and genetic testing and potentially also for new treatment strategies, including neuro-modulation.
Topics: Animals; Ataxia; Basal Ganglia; Cerebellum; Dystonia; Dystonic Disorders; Humans
PubMed: 34954622
DOI: 10.1016/j.ejpn.2021.12.001 -
Neurology Apr 2023In spinocerebellar ataxia, ataxia onset can be preceded by mild clinical manifestation, cerebellar and/or brainstem alterations, or biomarker modifications. READISCA is... (Observational Study)
Observational Study
BACKGROUND AND OBJECTIVES
In spinocerebellar ataxia, ataxia onset can be preceded by mild clinical manifestation, cerebellar and/or brainstem alterations, or biomarker modifications. READISCA is a prospective, longitudinal observational study of patients with spinocerebellar ataxia type 1 (SCA1) and 3 (SCA3) to provide essential markers for therapeutic interventions. We looked for clinical, imaging, or biological markers that are present at an early stage of the disease.
METHODS
We enrolled carriers of a pathologic or expansion and controls from 18 US and 2 European ataxia referral centers. Clinical, cognitive, quantitative motor, neuropsychological measures and plasma neurofilament light chain (NfL) measurements were compared between expansion carriers with and without ataxia and controls.
RESULTS
We enrolled 200 participants: 45 carriers of a pathologic expansion (31 patients with ataxia [median Scale for the Assessment and Rating of Ataxia: 9; 7-10] and 14 expansion carriers without ataxia [1; 0-2]) and 116 carriers of a pathologic expansion (80 patients with ataxia [7; 6-9] and 36 expansion carriers without ataxia [1; 0-2]). In addition, we enrolled 39 controls who did not carry a pathologic expansion in or . Plasma NfL levels were significantly higher in expansion carriers without ataxia than controls, despite similar mean age (controls: 5.7 pg/mL, SCA1: 18.0 pg/mL [ < 0.0001], SCA3: 19.8 pg/mL [ < 0.0001]). Expansion carriers without ataxia differed from controls by significantly more upper motor signs (SCA1 = 0.0003, SCA3 = 0.003) and by the presence of sensor impairment and diplopia in SCA3 ( = 0.0448 and 0.0445, respectively). Functional scales, fatigue and depression scores, swallowing difficulties, and cognitive impairment were worse in expansion carriers with ataxia than those without ataxia. Ataxic SCA3 participants showed extrapyramidal signs, urinary dysfunction, and lower motor neuron signs significantly more often than expansion carriers without ataxia.
DISCUSSION
READISCA showed the feasibility of harmonized data acquisition in a multinational network. NfL alterations, early sensory ataxia, and corticospinal signs were quantifiable between preataxic participants and controls. Patients with ataxia differed in many parameters from controls and expansion carriers without ataxia, with a graded increase of abnormal measures from control to preataxic to ataxic cohorts.
TRIAL REGISTRATION INFORMATION
ClinicalTrials.gov NCT03487367.
Topics: Humans; Prospective Studies; Spinocerebellar Ataxias; Cerebellar Ataxia; Cerebellum; Biomarkers; Machado-Joseph Disease
PubMed: 36797067
DOI: 10.1212/WNL.0000000000207088 -
Neuropsychopharmacologia Hungarica : a... Dec 2014Movement disorders are common in psychiatry. The movement disorder can either be the symptom of a psychiatric disorder, can share a common aetiological factor with it,... (Review)
Review
Movement disorders are common in psychiatry. The movement disorder can either be the symptom of a psychiatric disorder, can share a common aetiological factor with it, or can be the consequence of psychopharmacological therapy. Most common features include tic, stereotypy, compulsion, akathisia, dyskinesias, tremor, hypokinesia and disturbances of posture and gait. We discuss characteristics and clinical importance of these features. Movement disorders are frequently present in mood disorders, anxiety disorders, schizophrenia, catatonia, Tourette-disorder and psychogenic movement disorder, leading to differential-diagnostic and therapeutical difficulties in everyday practice. Movement disorders due to psychopharmacotherapy can be classified as early-onset, late-onset and tardive. Frequent psychiatric comorbidity is found in primary movement disorders, such as Parkinson's disease, Wilson's disease, Huntington's disease, diffuse Lewy-body disorder. Complex neuropsychiatric approach is effective concerning overlapping clinical features and spectrums of disorders in terms of movement disorders and psychiatric diseases.
Topics: Anxiety Disorders; Comorbidity; Compulsive Behavior; Conversion Disorder; Diagnosis, Differential; Dyskinesia, Drug-Induced; Dyskinesias; Gait; Humans; Hypokinesia; Mental Disorders; Mood Disorders; Movement Disorders; Posture; Psychotropic Drugs; Schizophrenia; Stereotypic Movement Disorder; Tic Disorders; Tourette Syndrome; Tremor
PubMed: 25577484
DOI: No ID Found -
Neurologia I Neurochirurgia Polska 2019In the current edition, Szejko and colleagues describe a subset of patients with Gilles de la Tourette syndrome (GTS) who had dystonic tics (DTs), which occurred more...
INTRODUCTION
In the current edition, Szejko and colleagues describe a subset of patients with Gilles de la Tourette syndrome (GTS) who had dystonic tics (DTs), which occurred more frequently in those with a greater number of tics and likely contribute to impairment. Clinical Reflections: DTs manifest as an abnormal posture that may be difficult to distinguish from other movements, such as dystonia and other tic types. Electromyography is an invaluable tool that can aid clinicians in making this important distinction.
CLINICAL IMPLICATIONS
Accurately diagnosing these movements can significantly impact treatment decisions and contribute to more homogenous research populations.
Topics: Dystonia; Humans; Tics; Tourette Syndrome
PubMed: 31664709
DOI: 10.5603/PJNNS.a2019.0050 -
Neurology India 2022Dopamine deficiency causes Parkinson's disease (PD), and on treatment, levodopa is the gold standard. Various drug-metabolizing enzymes and drug receptors are believed...
BACKGROUND
Dopamine deficiency causes Parkinson's disease (PD), and on treatment, levodopa is the gold standard. Various drug-metabolizing enzymes and drug receptors are believed to be involved in prompting dyskinesias due to the extended usage of levodopa. Shreds of evidence in genomic studies have presented that ADORA2A receptor antagonism has beneficial outcomes to avoid these drug-induced side effects.
OBJECTIVE
The aim of this study was to study the polymorphisms of rs2298383, rs35060421, and rs5751876 in the ADORA2A in patients diagnosed as PD and describe their possible relationships with levodopa-induced dyskinesias (LID).
METHODS
One-hundred and seventy-two patients were recruited and separated as the study and the control group. DNA was achieved from peripheral venous blood, high resolution melting analysis, and reverse-transcriptase PCR was performed.
RESULTS
The allele differences among the groups were not statistically significant. Although it was not statistically significant, the rs35060421 allele was observed to repeat more frequently. However, we did not find an association between such polymorphisms of ADORA2A and LID.
CONCLUSIONS
Although this result showed that a higher sample number might produce different results as possible, current results in the Turkish sample indicated that these alleles of ADORA2A might not be related to LID in patients.
Topics: Antiparkinson Agents; Dopamine Plasma Membrane Transport Proteins; Dyskinesias; Humans; Levodopa; Parkinson Disease; Polymorphism, Genetic
PubMed: 35532631
DOI: 10.4103/0028-3886.344646 -
European Neurology 2022Diabetic striatopathy (DS), coined as a generic term, has been defined as a hyperglycemic condition associated with either one of the two following conditions:... (Review)
Review
BACKGROUND
Diabetic striatopathy (DS), coined as a generic term, has been defined as a hyperglycemic condition associated with either one of the two following conditions: chorea/ballism or striatal hyperdensity on computed tomography or striatal hyperintensity on T1-weighted magnetic resonance imaging. This review highlights those "gray areas," which need further exploration to understand better hyperglycemia-induced striatal changes and diverse movement disorder phenotypes associated with these changes.
RESULTS AND DISCUSSION
We searched in PubMed and Google Scholar the terms "diabetes mellitus," "movement disorders," "diabetic striatopathy," "chorea," "hemichorea," "ballism," "hemichorea-hemiballism," and "neuroradiology" in various combinations (time range from 1980 to March 2022). We selected the publications about our topic of discussion.
SUMMARY
Hemichorea-hemiballismus is the most commonly associated movement disorder in DS, and the putamen is the most frequently affected anatomical region. The exact pathophysiological mechanisms remain elusive. Clinical-radiological discordance is not rare. Complete reversal of symptoms with the resolution of the imaging findings is the most prevalent outcome in patients with DS. Dramatic improvement of chorea can be achieved by either insulin monotherapy or combination therapy of insulin and D2-blocker or, in some cases, even spontaneously.
CONCLUSION
The term "diabetic striatopathy" is ambiguous and controversial. Pathological mechanisms behind clinical-radiological discordance in hyperglycemia-induced striatopathy need further exploration through well-designed studies. We propose a classification of DS that includes symptomatic DS (striatal neuroimaging lesions in association with a clinically evident movement disorder and hyperglycemia), clinically isolated DS (clinically evident movement disorders without striatal changes in neuroimaging), and radiologically isolated DS.
Topics: Chorea; Diabetes Mellitus; Dyskinesias; Humans; Hyperglycemia; Insulins; Magnetic Resonance Imaging; Movement Disorders; Neuroimaging
PubMed: 35717942
DOI: 10.1159/000524936 -
Medicina 2018Paroxysmal events are commonly encountered in toddlers. These events include a variety of conditions with different manifestations and pathophysiology. For that reason,... (Review)
Review
Paroxysmal events are commonly encountered in toddlers. These events include a variety of conditions with different manifestations and pathophysiology. For that reason, the diagnosis of these events can be challenging. In some instances, studies such as EEG and polysomnogram may be useful to differentiate between epileptic and non-epileptic events. In the majority of cases, a complete clinical history is enough to make an appropriate diagnosis. In this article, we review some of the most common paroxysmal non-epileptic events affecting toddlers, such as: tics, dyskinesias, sleep related events, etc. We also discuss diagnostic strategies and treatment options.
Topics: Child, Preschool; Diagnosis, Differential; Dyskinesias; Electroencephalography; Epilepsy; Humans; Movement Disorders; Polysomnography
PubMed: 30199366
DOI: No ID Found -
Journal of the Neurological Sciences Apr 2022Dystonia and tremor frequently co-occur. In some cases, they have shared biological mechanisms, while in others dystonia and tremor are two comorbid conditions. The term... (Review)
Review
Dystonia and tremor frequently co-occur. In some cases, they have shared biological mechanisms, while in others dystonia and tremor are two comorbid conditions. The term "dystonic tremor" is used to describe tremor in those who have dystonia. Two mutually exclusive definitions of "dystonic tremor" were proposed. According to one definition, dystonic tremor is the tremor in the dystonic body part. An alternate definition of dystonic tremor entails irregular and jerky oscillations that have saw tooth appearance with or without overt dystonia. This paper outlines the differences in two definitions of dystonic tremor and identifies their limitations. Given the diverse views defining "dystonic tremor", this paper will use the term "tremor in dystonia". In addition, we will outline different ways to separate the subtypes of tremor in dystonia. Then we will discuss pathophysiological mechanisms derived from the objective measures and single neuron physiology analyses of tremor in dystonia. This article is part of the Special Issue "Tremor" edited by Daniel D. Truong, Mark Hallett, and Aasef Shaikh.
Topics: Dystonia; Dystonic Disorders; Essential Tremor; Humans; Tremor
PubMed: 35259651
DOI: 10.1016/j.jns.2022.120199