-
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 -
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 -
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 -
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 -
PloS One 2024Deep brain stimulation (DBS) reliably ameliorates cardinal motor symptoms in Parkinson's disease (PD) and essential tremor (ET). However, the effects of DBS on speech,...
BACKGROUND
Deep brain stimulation (DBS) reliably ameliorates cardinal motor symptoms in Parkinson's disease (PD) and essential tremor (ET). However, the effects of DBS on speech, voice and language have been inconsistent and have not been examined comprehensively in a single study.
OBJECTIVE
We conducted a systematic analysis of literature by reviewing studies that examined the effects of DBS on speech, voice and language in PD and ET.
METHODS
A total of 675 publications were retrieved from PubMed, Embase, CINHAL, Web of Science, Cochrane Library and Scopus databases. Based on our selection criteria, 90 papers were included in our analysis. The selected publications were categorized into four subcategories: Fluency, Word production, Articulation and phonology and Voice quality.
RESULTS
The results suggested a long-term decline in verbal fluency, with more studies reporting deficits in phonemic fluency than semantic fluency following DBS. Additionally, high frequency stimulation, left-sided and bilateral DBS were associated with worse verbal fluency outcomes. Naming improved in the short-term following DBS-ON compared to DBS-OFF, with no long-term differences between the two conditions. Bilateral and low-frequency DBS demonstrated a relative improvement for phonation and articulation. Nonetheless, long-term DBS exacerbated phonation and articulation deficits. The effect of DBS on voice was highly variable, with both improvements and deterioration in different measures of voice.
CONCLUSION
This was the first study that aimed to combine the outcome of speech, voice, and language following DBS in a single systematic review. The findings revealed a heterogeneous pattern of results for speech, voice, and language across DBS studies, and provided directions for future studies.
Topics: Deep Brain Stimulation; Humans; Parkinson Disease; Speech; Voice; Language; Essential Tremor
PubMed: 38728329
DOI: 10.1371/journal.pone.0302739 -
World Psychiatry : Official Journal of... Jun 2024Psychotherapies are first-line treatments for most mental disorders, but their absolute outcomes (i.e., response and remission rates) are not well studied, despite the...
Psychotherapies are first-line treatments for most mental disorders, but their absolute outcomes (i.e., response and remission rates) are not well studied, despite the relevance of such information for health care users, providers and policy makers. We aimed to examine absolute and relative outcomes of psychotherapies across eight mental disorders: major depressive disorder (MDD), social anxiety disorder, panic disorder, generalized anxiety disorder (GAD), specific phobia, post-traumatic stress disorder (PTSD), obsessive-compulsive disorder (OCD), and borderline personality disorder (BPD). We used a series of living systematic reviews included in the Metapsy initiative (www.metapsy.org), with a common strategy for literature search, inclusion of studies and extraction of data, and a common format for the analyses. Literature search was conducted in major bibliographical databases (PubMed, PsycINFO, Embase, and the Cochrane Register of Controlled Trials) up to January 1, 2023. We included randomized controlled trials comparing psychotherapies for any of the eight mental disorders, established by a diagnostic interview, with a control group (waitlist, care-as-usual, or pill placebo). We conducted random-effects model pairwise meta-analyses. The main outcome was the absolute rate of response (at least 50% symptom reduction between baseline and post-test) in the treatment and control conditions. Secondary outcomes included the relative risk (RR) of response, and the number needed to treat (NNT). Random-effects meta-analyses of the included 441 trials (33,881 patients) indicated modest response rates for psychotherapies: 0.42 (95% CI: 0.39-0.45) for MDD; 0.38 (95% CI: 0.33-0.43) for PTSD; 0.38 (95% CI: 0.30-0.47) for OCD; 0.38 (95% CI: 0.33-0.43) for panic disorder; 0.36 (95% CI: 0.30-0.42) for GAD; 0.32 (95% CI: 0.29-0.37) for social anxiety disorder; 0.32 (95% CI: 0.23-0.42) for specific phobia; and 0.24 (95% CI: 0.15-0.36) for BPD. Most sensitivity analyses broadly supported these findings. The RRs were significant for all disorders, except BPD. Our conclusion is that most psychotherapies for the eight mental disorders are effective compared with control conditions, but absolute response rates are modest. More effective treatments and interventions for those not responding to a first-line treatment are needed.
PubMed: 38727072
DOI: 10.1002/wps.21203 -
Complementary Therapies in Medicine Jun 2024This study aimed to evaluate the clinical efficacy and safety of probiotics supplementation in the treatment of Parkinson's disease (PD). (Meta-Analysis)
Meta-Analysis
OBJECTIVE
This study aimed to evaluate the clinical efficacy and safety of probiotics supplementation in the treatment of Parkinson's disease (PD).
METHODS
We searched China National Knowledge Infrastructure (CNKI), Weipu (VIP) database, Wanfang Database, Sinomed (CBM), PubMed, Embase, Cochrane library and Web of Science databases for eligible studies from inception to January 4th, 2024. Randomized controlled trials (RCTS) comparing the effects of probiotic supplements and placebo in patients with PD. Meta-analysis was conducted with the software Review Manager 5.4. The quality assessment was performed according to Cochrane risk of bias tool.
RESULTS
A total of 11 RCTs with 756 PD patients were included in this study. We found that probiotics could increase the number of complete bowel movements (CBMs) per week and improved the scores of Patient Assessment of Constipation Quality of Life Questionnaire (PAC-QOL) (SMD = 0.73, 95 % CI: 0.54 to 0.92, P < 0.00001, I = 45 %; SMD = - 0.79, 95 % CI: - 1.19 to - 0.39, P < 0.001, I = 55 %, respectively) compared with the placebo group. However, there was no significant difference between the two groups in improving fecal traits and defecation efforts in PD patients (SMD = 0.87, 95 % CI: 0.01 to 1.74, P = 0.05, I = 94 %; SMD = 1.24, 95 % CI: - 1.58 to 4.06, P > 0.05, I = 98 %, respectively). In terms of PD composite scale scores: after treatment, there was no significant difference in Movement Disorder Society-Unified-Parkinson Disease Rating Scale Ⅲ score (MDS-UPDRSⅢ) between the probiotic group and the placebo group (SMD = - 0.09, 95 % CI: - 0.35 to 0.16, P > 0.05, I = 0 %).
CONCLUSIONS
In conclusion, based on the overall results of the available RCTs studies, our results suggested the potential value of probiotics in improving constipation symptoms in PD patients. Therefore, probiotics may be one of the adjuvant therapy for PD-related constipation patients. The findings of this study provide more proof supporting the effectiveness of probiotics, encouraging probiotics to be utilized alone or in combination with other therapies in clinical practice for PD patients. However, more well-designed RCTs with large sample sizes are required.
Topics: Humans; Constipation; Dietary Supplements; Parkinson Disease; Probiotics; Quality of Life; Randomized Controlled Trials as Topic
PubMed: 38705493
DOI: 10.1016/j.ctim.2024.103045 -
Stereotactic and Functional Neurosurgery 2024Deep brain stimulation (DBS) is an effective therapy for Parkinson's disease (PD), but disparities exist in access to DBS along gender, racial, and socioeconomic lines. (Review)
Review
BACKGROUND
Deep brain stimulation (DBS) is an effective therapy for Parkinson's disease (PD), but disparities exist in access to DBS along gender, racial, and socioeconomic lines.
SUMMARY
Women are underrepresented in clinical trials and less likely to undergo DBS compared to their male counterparts. Racial and ethnic minorities are also less likely to undergo DBS procedures, even when controlling for disease severity and other demographic factors. These disparities can have significant impacts on patients' access to care, quality of life, and ability to manage their debilitating movement disorders.
KEY MESSAGES
Addressing these disparities requires increasing patient awareness and education, minimizing barriers to equitable access, and implementing diversity and inclusion initiatives within the healthcare system. In this systematic review, we first review literature discussing gender, racial, and socioeconomic disparities in DBS access and then propose several patient, provider, community, and national-level interventions to improve DBS access for all populations.
Topics: Humans; Deep Brain Stimulation; Parkinson Disease; Healthcare Disparities; Health Services Accessibility; Socioeconomic Factors; Female; Male
PubMed: 38697047
DOI: 10.1159/000538748