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Tremor and Other Hyperkinetic Movements... 2024Subacute Sclerosing Panencephalitis (SSPE) typically presents with periodic myoclonus; however, a spectrum of movement disorders including dystonia, chorea, tremor, and... (Review)
Review
BACKGROUND
Subacute Sclerosing Panencephalitis (SSPE) typically presents with periodic myoclonus; however, a spectrum of movement disorders including dystonia, chorea, tremor, and parkinsonism have also been described. This review aims to evaluate the array of movement disorders in SSPE, correlating them with neuroimaging findings, disease stages, and patient outcomes.
METHODS
A comprehensive review of published case reports and case series was conducted on patients with SSPE exhibiting movement disorders other than periodic myoclonus. PRISMA guidelines were followed, and the protocol was registered with PROSPERO (2023 CRD42023434650). A comprehensive search of multiple databases yielded 37 reports detailing 39 patients. Dyken's criteria were used for SSPE diagnosis, and the International Movement Disorders Society definitions were applied to categorize movement disorders.
RESULTS
The majority of patients were male, with an average age of 13.8 years. Approximately, 80% lacked a reliable vaccination history, and 39% had prior measles infections. Dystonia was the most common movement disorder (49%), followed by parkinsonism and choreoathetosis. Rapid disease progression was noted in 64% of cases, with a disease duration of ≤6 months in 72%. Neuroimaging showed T2/FLAIR MR hyperintensities, primarily periventricular, with 26% affecting the basal ganglia/thalamus. Brain biopsies revealed inflammatory and neurodegenerative changes. Over half of the patients (56%) reached an akinetic mute state or died.
CONCLUSION
SSPE is associated with diverse movement disorders, predominantly hyperkinetic. The prevalence of dystonia suggests basal ganglia dysfunction.
Topics: Humans; Chorea; Dystonia; Hyperkinesis; Hypokinesia; Movement Disorders; Parkinsonian Disorders; Subacute Sclerosing Panencephalitis; Case Reports as Topic; Male; Female; Adolescent
PubMed: 38765932
DOI: 10.5334/tohm.875 -
Sleep Medicine Jul 2024Dopamine agonists (DAs) constitute the standard therapeutic scheme for restless leg syndrome (RLS) because they have been proven to be effective. However, DAs may change... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Dopamine agonists (DAs) constitute the standard therapeutic scheme for restless leg syndrome (RLS) because they have been proven to be effective. However, DAs may change sleep parameters, thus having adverse effects on patient condition. This meta-analysis clarified the effects of DAs used in RLS treatment on the sleep architecture.
METHODS
PubMed, Embase, and Cochrane Central databases were searched for randomized control trials (RCT) (up to October 2023) that discussed the effects of DAs on sleep architecture in patients with RLS. A meta-analysis employing a random-effects model was conducted. The patients were divided into subgroups according to individual DAs and treatment duration (1 day or ≥4 weeks).
RESULTS
Thirteen eligible randomized placebo-controlled trials were included in the assessment. The effects of three DAs (i.e., pramipexole, ropinirole, and rotigotine) on rapid eye movement (REM) sleep, slow-wave sleep (SWS), and sleep efficiency (SE) were analyzed. Overall, pramipexole significantly improved SE but decreased the percentage of REM sleep among treated patients. Ropinirole also enhanced SE compared with the placebo group. Rotigotine did not affect SE and REM sleep. Subgroup analysis found that pramipexole used for 1 day and ≥4 weeks significantly diminished the percentage of REM sleep. Ropinirole used for 1 day showed similar REM sleep patterns. Finally, none of the three DAs affected SWS.
CONCLUSIONS
This meta-analysis demonstrated that DAs significantly affect sleep parameters.
Topics: Restless Legs Syndrome; Humans; Dopamine Agonists; Pramipexole; Randomized Controlled Trials as Topic; Tetrahydronaphthalenes; Sleep, REM; Indoles; Thiophenes
PubMed: 38761607
DOI: 10.1016/j.sleep.2024.05.011 -
Neurology Jun 2024Knowledge of young-onset Alzheimer disease in adults with Down syndrome has greatly improved clinical care. However, little is known about dementia in rare genetic...
BACKGROUND AND OBJECTIVES
Knowledge of young-onset Alzheimer disease in adults with Down syndrome has greatly improved clinical care. However, little is known about dementia in rare genetic neurodevelopmental disorders (RGNDs). In this review, a comprehensive overview is provided of reports on dementia and cognitive/adaptive trajectories in adults with RGNDs.
METHODS
A systematic literature review was conducted in Embase, Medline ALL, and PsycINFO on December 6, 2022. The protocol was registered in PROSPERO (CRD42021223041). Search terms for dementia, cognitive and adaptive functioning, and RGNDs were combined using generic terms and the Orphanet database. Study characteristics and descriptive data on genetic diagnosis, clinical and neuropathologic features, comorbidities, and diagnostic methods were extracted using a modified version of the Cochrane Data Extraction Template.
RESULTS
The literature search yielded 40 publications (17 cohorts, 23 case studies) describing dementia and/or cognitive or adaptive trajectories in adults with 14 different RGNDs. Dementia was reported in 49 individuals (5 cohorts, 20 cases) with a mean age at onset of 44.4 years. Diagnostics were not disclosed for half of the reported individuals (n = 25/49, 51.0%). A total of 44 different psychodiagnostic instruments were used. MRI was the most reported additional investigation (n = 12/49, 24.5%). Comorbid disorders most frequently associated with cognitive/adaptive decline were epilepsy, psychotic disorders, and movement disorders.
DISCUSSION
Currently available literature shows limited information on aging in RGNDs, with relatively many reports of young-onset dementia. Longitudinal data may provide insights into converging neurodevelopmental degenerative pathways. We provide recommendations to optimize dementia screening, diagnosis, and research.
Topics: Humans; Dementia; Neurodevelopmental Disorders; Rare Diseases; Adult
PubMed: 38759134
DOI: 10.1212/WNL.0000000000209413 -
Sleep & Breathing = Schlaf & Atmung May 2024The International Classification of Sleep Disorders categorized catathrenia as a respiratory disorder, but there are doubts whether episodes appear during rapid eye... (Review)
Review
STUDY OBJECTIVES
The International Classification of Sleep Disorders categorized catathrenia as a respiratory disorder, but there are doubts whether episodes appear during rapid eye movement (REM) sleep or the non-rapid eye movement (NREM), their duration, and symptoms. The main objectives were to identify the most common features and relations of catathrenia.
METHODS
PubMed, Embase, and Web of Science were searched according to the PRISMA 2020 guidelines. The Joanna Briggs Institute and the ROBINS-I tools were chosen to assess the risk of bias.
RESULTS
A total of 288 records were identified, 31 articles were included. The majority of the studies had a moderate risk of bias. 49.57% of episodes occurred during the NREM sleep, while 46% took place during REM. In 60.34% females, catathrenia was more common in the NREM, while in 59.26% of males was in REM sleep (p < 0.05). Females and obese individuals were found to have shorter episodes (p < 0.05). Age was inversely correlated with minimal episodes duration (r = - 0.34). The continuous positive airway pressure (CPAP) therapy was inversely correlated with the maximal episode duration (r = - 0.48).
CONCLUSIONS
Catathrenia occurs with similar frequency in both genders. The most frequent symptoms embraced groaning, awareness of disturbing bedpartners, and daytime somnolence-not confirmed by the Epworth Sleepiness Scale. The episodes occur more frequently in NREM than in REM sleep. Catathrenia may be considered as a sex-specific condition. The effects of CPAP treatment leading to shortening episodes duration, which may indicate the respiratory origin of catathrenia.
PubMed: 38755507
DOI: 10.1007/s11325-024-03033-0 -
Journal of Clinical Neuroscience :... Jul 2024There is a lack of enough evidence regarding the epidemiology of Young-onset Parkinson's disease (YOPD) which is needed by clinicians and healthcare policymakers. (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
There is a lack of enough evidence regarding the epidemiology of Young-onset Parkinson's disease (YOPD) which is needed by clinicians and healthcare policymakers.
AIM
Herein, in this systematic review and meta-analysis, we aimed to estimate the global prevalence and incidence rates of YOPD.
METHODS
We searched the literature in PubMed, Scopus, and Web of Science in May 2022. We included retrospective, prospective, cross-sectional observational population-based studies that reported the prevalence or incidence of PD in individuals younger than 40 years with known diagnostic criteria.
RESULTS
After two-step screening, 50 studies were eligible to be included in our study. The age-standardized prevalence of YOPD was 10.2 per 100,000 persons globally while it was 14.7 per 100,000 population in European countries. Age-standardized prevalence estimates for 5-year age bands showed that the YOPD prevalence estimates varied from 6.1 per 100,000 population in the group aged 20-24 to 16.1 per 100,000 population in the group aged 35-39. Also, the age-standardized incidence of YOPD was 1.3 per 100,000 person-years population worldwide and 1.2 per 100,000 person-years in the European population.
CONCLUSION
Based on this systematic review and meta-analysis, the overall prevalence of YOPD is 10.2 per 100,000 population, although estimates of the prevalence and incidence in low-income countries remain scarce. To improve monitoring and certain diagnoses of YOPD, healthcare providers and policymakers should be aware that much more effective tools are required.
Topics: Humans; Parkinson Disease; Incidence; Prevalence; Age of Onset; Global Health; Adult; Young Adult
PubMed: 38754241
DOI: 10.1016/j.jocn.2024.05.015 -
PloS One 2024Parkinson's Disease is the second most common neurological disease in over 60s. Cognitive impairment is a major clinical symptom, with risk of severe dysfunction up to...
BACKGROUND
Parkinson's Disease is the second most common neurological disease in over 60s. Cognitive impairment is a major clinical symptom, with risk of severe dysfunction up to 20 years post-diagnosis. Processes for detection and diagnosis of cognitive impairments are not sufficient to predict decline at an early stage for significant impact. Ageing populations, neurologist shortages and subjective interpretations reduce the effectiveness of decisions and diagnoses. Researchers are now utilising machine learning for detection and diagnosis of cognitive impairment based on symptom presentation and clinical investigation. This work aims to provide an overview of published studies applying machine learning to detecting and diagnosing cognitive impairment, evaluate the feasibility of implemented methods, their impacts, and provide suitable recommendations for methods, modalities and outcomes.
METHODS
To provide an overview of the machine learning techniques, data sources and modalities used for detection and diagnosis of cognitive impairment in Parkinson's Disease, we conducted a review of studies published on the PubMed, IEEE Xplore, Scopus and ScienceDirect databases. 70 studies were included in this review, with the most relevant information extracted from each. From each study, strategy, modalities, sources, methods and outcomes were extracted.
RESULTS
Literatures demonstrate that machine learning techniques have potential to provide considerable insight into investigation of cognitive impairment in Parkinson's Disease. Our review demonstrates the versatility of machine learning in analysing a wide range of different modalities for the detection and diagnosis of cognitive impairment in Parkinson's Disease, including imaging, EEG, speech and more, yielding notable diagnostic accuracy.
CONCLUSIONS
Machine learning based interventions have the potential to glean meaningful insight from data, and may offer non-invasive means of enhancing cognitive impairment assessment, providing clear and formidable potential for implementation of machine learning into clinical practice.
Topics: Humans; Parkinson Disease; Machine Learning; Cognitive Dysfunction
PubMed: 38753740
DOI: 10.1371/journal.pone.0303644 -
Movement Disorders Clinical Practice May 2024Subacute sclerosing panencephalitis (SSPE) is a complication of measles, occurring after a latency of 4-10 years. It continues to occur in developing countries... (Review)
Review
BACKGROUND
Subacute sclerosing panencephalitis (SSPE) is a complication of measles, occurring after a latency of 4-10 years. It continues to occur in developing countries although resurgence is being reported from developed countries. Characteristic features include progressive neuropsychiatric issues, myoclonus, seizures, movement disorders and visual impairment. Electroencephalography (EEG) typically shows periodic generalized discharges, and elevated CSF anti-measles antibodies are diagnostic. Movement disorders are being increasingly recognized as part of the clinical spectrum, and range from hyperkinetic (chorea, dystonia, tremor, tics) to hypokinetic (parkinsonism) disorders and ataxia.
OBJECTIVES
This article aims to comprehensively review the spectrum of movement disorders associated with SSPE.
METHODS
A literature search was conducted in PubMed and EMBASE databases in December 2023 and articles were identified for review.
RESULTS
Movement disorders reported in SSPE included hyperkinetic (chorea, dystonia, tremor and tics), hypokinetic (parkinsonism), ataxia and extraocular movement disorders. Myoclonus, a core clinical feature, was the most frequent "abnormal movement." Movement disorders were observed in all clinical stages, and could also be a presenting feature, even sans myoclonus. Hyperkinetic movement disorders were more common than hypokinetic movement disorders. An evolution of movement disorders was observed, with ataxia, chorea and dystonia occurring earlier, and parkinsonism later in the disease. Neuroradiological correlates of movement disorders remained unclear.
CONCLUSION
A wide spectrum of movement disorders was observed throughout the clinical stages of SSPE. Most data were derived from case reports and small case series. Multicentric longitudinal studies are required to better delineate the spectrum and evolution of movement disorders in SSPE.
PubMed: 38748762
DOI: 10.1002/mdc3.14062 -
BMC Neurology May 2024Postural balance impairment can affect the quality of life of patients with Parkinson's disease. Previous studies have described connections of the vestibular system... (Meta-Analysis)
Meta-Analysis
INTRODUCTION
Postural balance impairment can affect the quality of life of patients with Parkinson's disease. Previous studies have described connections of the vestibular system with postural functions, suggesting a potential participation of the basal ganglia in receiving vestibular stimuli. This systematic review aims to summarize the evidence on the effectiveness of vestibular rehabilitation on postural balance in patients with Parkinson's disease.
METHODS
A systematic review was conducted using the electronic databases: PubMed, Embase, Scopus and PEDro. The study selection was independently conducted by two reviewers, and disagreements were evaluated by a third reviewer. The included studies had no restrictions on publication dates or languages and the last update occurred in July 2023.
RESULTS
From the 485 studies found in the searches, only 3 studies were deemed eligible for the systematic review involving a total of 130 participants. The Berg Balance Scale was described as the tool for evaluation of postural balance in all studies. The meta-analysis showed statistically significant results in favor of vestibular rehabilitation (MD = 5.35; 95% CI = 2.39, 8.31; P < 0.001), regardless of the stage of Parkinson's disease. Although the effect size was suggested as a useful functional gain, the analysis was done with caution, as it only included 3 randomized controlled trials. The risk of bias using the RoB-2 was considered as being of "some concern" in all studies. Furthermore, the quality of the evidence based on the Grading of Recommendations Assessment Development and Evaluation system, produced by pooling the included studies was considered very low.
CONCLUSION
Compared to other interventions, vestibular rehabilitation has potential to assist the postural balance of patients with Parkinson's disease. However, the very low quality of the evidence demonstrates uncertainty about the impact of this clinical practice. More robust studies are needed to confirm the benefits of this therapy in patients with Parkinson's disease. This study was prospectively registered in PROSPERO: CRD42020210185.
Topics: Postural Balance; Humans; Parkinson Disease; Randomized Controlled Trials as Topic; Vestibular Diseases; Treatment Outcome; Vestibule, Labyrinth; Neurological Rehabilitation
PubMed: 38745275
DOI: 10.1186/s12883-024-03649-5 -
Tremor and Other Hyperkinetic Movements... 2024Opsoclonus is a rare disorder characterized by conjugate multidirectional, horizontal, vertical, and torsional saccadic oscillations, without intersaccadic interval,...
BACKGROUND
Opsoclonus is a rare disorder characterized by conjugate multidirectional, horizontal, vertical, and torsional saccadic oscillations, without intersaccadic interval, resulting from dysfunction within complex neuronal pathways in the brainstem and cerebellum. While most cases of opsoclonus are associated with autoimmune or paraneoplastic disorders, infectious agents, trauma, or remain idiopathic, opsoclonus can also be caused by medications affecting neurotransmission. This review was prompted by a case of opsoclonus occurring in a patient with Multiple System Atrophy, where amantadine, an NMDA-receptor antagonist, appeared to induce opsoclonus.
METHODS
Case report of a single patient and systematized review of toxic/drug-induced opsoclonus, selecting articles based on predefined criteria and assessing the quality of included studies.
RESULTS
The review included 30 articles encompassing 158 cases of toxic/drug-induced opsoclonus. 74% of cases were attributed to bark scorpion poisoning, followed by 9% of cases associated with chlordecone intoxication. The remaining cases were due to various toxics/drugs, highlighting the involvement of various neurotransmitters, including acetylcholine, glutamate, GABA, dopamine, glycine, and sodium channels, in the development of opsoclonus.
CONCLUSION
Toxic/drug-induced opsoclonus is very rare. The diversity of toxics/drugs impacting different neurotransmitter systems makes it challenging to define a unifying mechanism, given the intricate neuronal pathways underlying eye movement physiology and opsoclonus pathophysiology.
Topics: Humans; Male; Amantadine; Multiple System Atrophy; Ocular Motility Disorders; Aged
PubMed: 38737300
DOI: 10.5334/tohm.832 -
Brain : a Journal of Neurology Jun 2024Biallelic pathogenic variants in the PNPLA6 gene cause a broad spectrum of disorders leading to gait disturbance, visual impairment, anterior hypopituitarism and hair...
Biallelic pathogenic variants in the PNPLA6 gene cause a broad spectrum of disorders leading to gait disturbance, visual impairment, anterior hypopituitarism and hair anomalies. PNPLA6 encodes neuropathy target esterase (NTE), yet the role of NTE dysfunction on affected tissues in the large spectrum of associated disease remains unclear. We present a systematic evidence-based review of a novel cohort of 23 new patients along with 95 reported individuals with PNPLA6 variants that implicate missense variants as a driver of disease pathogenesis. Measuring esterase activity of 46 disease-associated and 20 common variants observed across PNPLA6-associated clinical diagnoses unambiguously reclassified 36 variants as pathogenic and 10 variants as likely pathogenic, establishing a robust functional assay for classifying PNPLA6 variants of unknown significance. Estimating the overall NTE activity of affected individuals revealed a striking inverse relationship between NTE activity and the presence of retinopathy and endocrinopathy. This phenomenon was recaptured in vivo in an allelic mouse series, where a similar NTE threshold for retinopathy exists. Thus, PNPLA6 disorders, previously considered allelic, are a continuous spectrum of pleiotropic phenotypes defined by an NTE genotype:activity:phenotype relationship. This relationship, and the generation of a preclinical animal model, pave the way for therapeutic trials, using NTE as a biomarker.
Topics: Animals; Female; Humans; Male; Mice; Acyltransferases; Carboxylic Ester Hydrolases; Mutation, Missense; Phenotype; Phospholipases; Retinal Diseases
PubMed: 38735647
DOI: 10.1093/brain/awae055