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Movement Disorders : Official Journal... Sep 2021The landscape of genetic forms of Parkinson's diseases (PD) has grown exponentially in recent years. Today, around 10% of PD cases are estimated to be of genetic... (Review)
Review
The landscape of genetic forms of Parkinson's diseases (PD) has grown exponentially in recent years. Today, around 10% of PD cases are estimated to be of genetic etiology. However, the link between parkinsonism or tremor and chromosome disorders, both numerical and structural, has been neglected. We reviewed the occurrence and characteristics of parkinsonism and tremor syndromes in patients with chromosomic disorders. We searched PubMed for articles published until December 2018, using the non-MESH terms "Chromosomopathy," "karyotype," "chromosome," "aneuploidy," "deletion," "inversion," "insertion," "duplication," and "Parkinson," "Parkinsonism," "Tremor," and "Parkinsonian disorder." We restricted the search to human studies and selected articles for further analysis after abstract review. Tremor syndromes in which patients had another possible clinical reason for syndromes were excluded, as well as tremor syndromes associated with point mutations, imprinting syndromes, and patients presenting with other hyperkinetic disorders. Fifty-four articles were reviewed. Aneuploidies of sex chromosomes were the most common chromosomopathy. These patients more commonly exhibited postural and kinetic tremor, often meeting the description of essential tremor. In structural chromosomopathies, the most frequent association was PD and 22q11.2 deletion syndrome, but we found case reports and case series of several additional deletion and duplication syndromes. © 2021 International Parkinson and Movement Disorder Society.
Topics: DiGeorge Syndrome; Essential Tremor; Humans; Parkinson Disease; Parkinsonian Disorders; Tremor
PubMed: 34056754
DOI: 10.1002/mds.28663 -
Clinical Rehabilitation Dec 2019To investigate the psychometric properties of measures of balance and falls risk prediction in people with Parkinson's disease (PD).
OBJECTIVE
To investigate the psychometric properties of measures of balance and falls risk prediction in people with Parkinson's disease (PD).
DATA SOURCES
PubMed, Embase, CINAHL, Ovid Medline, Scopus, and Web of Science were searched from inception to August 2019.
REVIEW METHOD
Studies testing psychometric properties of measures of balance and falls risk prediction in PD were included. The four-point COnsensus-based Standards for the selection of health Measurement INstruments (COSMIN) assessed quality.
RESULTS
Eighty studies testing 68 outcome measures were reviewed; 43 measures assessed balance, 9 assessed falls risk prediction, and 16 assessed both. The measures with robust psychometric estimation with acceptable properties were the (1) Mini-Balance Evaluation Systems Test (Mini-BEST), (2) Berg Balance Scale, (3) Timed Up and Go test, (4) Falls Efficacy Scale International, and (5) Activities-Specific Balance Confidence scale. These measures assess balance and falls risk prediction at the body, structure and function level, falls risk and balance, and falls risk at the activity level. The motor examination of the Unified Parkinson's Disease Rating Scale (UPDRS-ME) with robust psychometric analysis is a condition-specific measure with acceptable properties. Except the UPDRS-ME and Mini-BESTest, the responsiveness of the other four measures has yet to be established.
CONCLUSION
Six of the 68 outcome measures have strong psychometric properties for the assessment of balance and falls risk prediction in PD. Measures assessing balance and falls risk prediction at the participatory level are limited in number with a lack of psychometric validation.
Topics: Accidental Falls; Humans; Motor Activity; Outcome Assessment, Health Care; Parkinson Disease; Physical Therapy Modalities; Postural Balance; Psychometrics; Reproducibility of Results; Time and Motion Studies
PubMed: 31571503
DOI: 10.1177/0269215519877498 -
Movement Disorders : Official Journal... Jul 2022Mutations in the GBA gene cause Gaucher's disease (GD) and constitute the most frequent genetic risk factor for idiopathic Parkinson's disease (iPD). Nonmanifesting... (Review)
Review
BACKGROUND
Mutations in the GBA gene cause Gaucher's disease (GD) and constitute the most frequent genetic risk factor for idiopathic Parkinson's disease (iPD). Nonmanifesting carriers of GBA mutations/variants (GBA-NMC) constitute a potential PD preclinical population, whereas PD patients carrying some GBA mutations/variants (GBA-PD) have a higher risk of a more aggressive disease course. Different neuroimaging techniques are emerging as potential biomarkers in PD and have been used to study GBA-associated parkinsonism.
OBJECTIVE
The aim is to critically review studies applying neuroimaging to GBA-associated parkinsonism.
METHODS
Literature search was performed using PubMed and EMBASE databases (last search February 7, 2022). Studies reporting neuroimaging findings in GBA-PD, GD with and without parkinsonism, and GBA-NMC were included.
RESULTS
Thirty-five studies were included. In longitudinal studies, GBA-PD patients show a more aggressive disease than iPD at both structural magnetic resonance imaging and 123-fluoropropylcarbomethoxyiodophenylnortropane single-photon emission computed tomography. Fluorodeoxyglucose-positron emission tomography and brain perfusion studies reported a greater cortical involvement in GBA-PD compared to iPD. Overall, contrasting evidence is available regarding GBA-NMC for imaging and clinical findings, although subtle differences have been reported compared with healthy controls with no mutations.
CONCLUSIONS
Although results must be interpreted with caution due to limitations of the studies, in line with previous clinical observations, GBA-PD showed a more aggressive disease progression in neuroimaging longitudinal studies compared to iPD. Cognitive impairment, a "clinical signature" of GBA-PD, seems to find its neuroimaging correlate in the greater cortical burden displayed by these patients as compared to iPD. © 2022 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
Topics: Gaucher Disease; Glucosylceramidase; Humans; Neuroimaging; Parkinson Disease; Parkinsonian Disorders
PubMed: 35521899
DOI: 10.1002/mds.29047 -
Movement Disorders : Official Journal... Jul 2021This Movement Disorder Society Genetic mutation database Systematic Review focuses on monogenic atypical parkinsonism with mutations in the ATP13A2, DCTN1, DNAJC6,...
This Movement Disorder Society Genetic mutation database Systematic Review focuses on monogenic atypical parkinsonism with mutations in the ATP13A2, DCTN1, DNAJC6, FBXO7, SYNJ1, and VPS13C genes. We screened 673 citations and extracted genotypic and phenotypic data for 140 patients (73 families) from 77 publications. In an exploratory fashion, we applied an automated classification procedure via an ensemble of bootstrap-aggregated ("bagged") decision trees to distinguish these 6 forms of monogenic atypical parkinsonism and found a high accuracy of 86.5% (95%CI, 86.3%-86.7%) based on the following 10 clinical variables: age at onset, spasticity and pyramidal signs, hypoventilation, decreased body weight, minimyoclonus, vertical gaze palsy, autonomic symptoms, other nonmotor symptoms, levodopa response quantification, and cognitive decline. Comparing monogenic atypical with monogenic typical parkinsonism using 2063 data sets from Movement Disorder Society Genetic mutation database on patients with SNCA, LRRK2, VPS35, Parkin, PINK1, and DJ-1 mutations, the age at onset was earlier in monogenic atypical parkinsonism (24 vs 40 years; P = 1.2647 × 10) and levodopa response less favorable than in patients with monogenic typical presentations (49% vs 93%). In addition, we compared monogenic to nonmonogenic atypical parkinsonism using data from 362 patients with progressive supranuclear gaze palsy, corticobasal degeneration, multiple system atrophy, or frontotemporal lobar degeneration. Although these conditions share many clinical features with the monogenic atypical forms, they can typically be distinguished based on their later median age at onset (64 years; IQR, 57-70 years). In conclusion, age at onset, presence of specific signs, and degree of levodopa response inform differential diagnostic considerations and genetic testing indications in atypical forms of parkinsonism. © 2021 International Parkinson and Movement Disorder Society.
Topics: Genotype; Humans; Levodopa; Parkinson Disease; Parkinsonian Disorders; Phenotype
PubMed: 34396589
DOI: 10.1002/mds.28517 -
BMC Geriatrics Aug 2023To compare, rank and evaluate the 24 exercise types that improve postural instability in patients with Parkinson's disease (PD). (Meta-Analysis)
Meta-Analysis
OBJECTIVE
To compare, rank and evaluate the 24 exercise types that improve postural instability in patients with Parkinson's disease (PD).
METHODS
We searched the data in PubMed, MEDLINE, Embase, PsycINFO, Cochrane library, and Web of Science from their inception date to January 23, 2023. Randomized controlled trials (RCTs) that aimed at determining the effectiveness of physical activity interventions on postural instability in adults with PD. This review focused on different balance outcome categories: (a) balance test batteries (BBS); (b) static steady-state balance (sSSB); (c) dynamic steady-state balance (dSSB); (d) proactive balance (PB); (e) reactive balance (RB).
RESULTS
Among 10,474 records, 199 studies (patients = 9523) were eligible for qualitative synthesis. The random-effects NMA model revealed that the following exercise training modalities had the highest p score of being best when compared with control group: body-weight support treadmill training (BWS_TT) for BBS (p score = 0.97; pooled standardised mean difference (95% CI): 1.56 (0.72 to 2.39)) and dSSB (1.00; 1.53 (1.07 to 2.00)), aquatic exercise (AQE) for sSSB (0.85; 0.94 (0.33 to 1.54)), Pilates for PB (0.95; 1.42 (0.59 to 2.26)). Balance and gait training with the external cue or attention (BGT_ECA) and robotic assisted gait balance (RA_GT) had similar superior effects in improving RB. The confidence in evidence was often low according to Confidence in Network Meta-Analysis.
CONCLUSIONS
There is low quality evidence that BWS_TT, AQE, Pilates, BGT_ECA and RA_GT are possibly the most effective treatments, pending outcome of interest, for adults with PD.
Topics: Humans; Parkinson Disease; Network Meta-Analysis; Exercise; Exercise Therapy; Gait
PubMed: 37641007
DOI: 10.1186/s12877-023-04239-9 -
Reviews in the Neurosciences Feb 2021Genes associated with parkinsonism may also be implicated in carcinogenesis, but their interplay remains unclear. We systematically reviewed studies (PubMed 1967-2019)... (Meta-Analysis)
Meta-Analysis Review
Genes associated with parkinsonism may also be implicated in carcinogenesis, but their interplay remains unclear. We systematically reviewed studies (PubMed 1967-2019) reporting gene variants associated with both parkinsonism and cancer. Somatic variants were examined in cancer samples, whereas germline variants were examined in cancer patients with both symptomatic and asymptomatic (carriers) genetic parkinsonisms. Pooled proportions were calculated with random-effects meta-analyses. Out of 9,967 eligible articles, 60 were included. Of the 28 genetic variants associated with parkinsonism, six were also associated with cancer. In cancer samples, was predominantly associated with gastrointestinal cancers with breast cancer, and with head-and-neck cancers. In asymptomatic carriers, was predominantly associated with gastrointestinal and prostate cancers, with prostate and genitourinary tract cancers, with sarcoma, and deletion with leukemia. In symptomatic genetic parkinsonism, was associated with nonmelanoma skin cancers and breast cancers, and with head-and-neck cancers. Cancer was more often manifested in genetic parkinsonisms compared to asymptomatic carriers. These results suggest that intraindividual genetic contributions may modify the co-occurrence of cancer and neurodegeneration.
Topics: Humans; Male; Neoplasms; Parkinson Disease; Parkinsonian Disorders
PubMed: 33151182
DOI: 10.1515/revneuro-2020-0083 -
Journal of Neurology Mar 2022To investigate the retina thickness assessed using optical coherence tomography in atypical parkinsonism in comparison with health controls (HC) and patients with... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND AND PURPOSE
To investigate the retina thickness assessed using optical coherence tomography in atypical parkinsonism in comparison with health controls (HC) and patients with Parkinson's disease (PD).
METHODS
PubMed and EMBASE were searched for potentially eligible studies that reported retina thickness in atypical parkinsonism [including progressive supranuclear palsy (PSP), multiple system atrophy (MSA) and corticobasal degeneration] in comparison with that of HC and PD patients from their dates of inception to Jan 24, 2021. Mean difference (μm) of the thickness of peripapillary retinal nerve fiber layer (pRNFL) and central macular thickness (CMT) were pooled with random effects model.
RESULTS
We included ten studies eligible for inclusion criteria. Average pRNFL thickness and average CMT were thinner in PSP [pooled mean difference (μm) of - 4.71, 95% CI (- 7.15, - 2.27); - 15.12, 95% CI (- 16.93, - 13.30)] and in MSA [- 5.37, 95% CI (- 6.59, - 4.15); - 5.93, 95% CI (- 11.00, - 0.87)] compared with HC, and were thinner in PSP [- 5.81, 95% CI (- 8.92, - 2.69); - 10.63, 95% CI (- 20.29, - 0.98)] and in MSA [- 0.35 μm, 95% CI (- 5.72, 5.01); - 7.42 μm [95% CI (- 12.46, - 2.38)] compared with PD. The pRNFL thickness was thinning in superior, inferior and nasal quadrants, and CMT was thinning in outer sectors in MSA compared with HC.
CONCLUSIONS
The retina thickness was significantly thinner in PSP and MSA than those in HC and PD. The specific patterns of retina thinning in MSA could be clinical importance for differentiation among atypical parkinsonism.
Topics: Humans; Multiple System Atrophy; Parkinson Disease; Parkinsonian Disorders; Retina; Tomography, Optical Coherence
PubMed: 34245345
DOI: 10.1007/s00415-021-10703-6 -
Journal of Physiotherapy Apr 2019What are the effects of aquatic exercise on disease severity, (non-)motor impairments, activity performance, fear of falling, and quality of life in people with...
QUESTIONS
What are the effects of aquatic exercise on disease severity, (non-)motor impairments, activity performance, fear of falling, and quality of life in people with Parkinson's disease (PD)? Does aquatic exercise have greater effects on these outcomes than other forms of exercise in people with PD?
DESIGN
Systematic review and meta-analysis of randomised controlled trials.
PARTICIPANTS
People with idiopathic PD.
INTERVENTION
Supervised aquatic exercise programs ≥ 2 weeks.
OUTCOMES MEASURES
The primary outcomes were disease severity, motor impairments, activity performance, and fear of falling. The secondary outcomes were non-motor impairments and quality of life.
RESULTS
Of the 129 identified records, seven trials met the inclusion criteria and six were meta-analysed (159 participants). One trial assessed the effect of aquatic exercise compared with control and found a significant improvement in the Unified Parkinson's Disease Rating Scale Part III (MD -4.6, 95% CI -7.5 to -1.7) in favour of aquatic exercise. Six studies compared aquatic exercise with land-based exercise after intervention (mean 7.2 weeks of training (SD 2.2); 159 participants). The effect of aquatic exercise was superior to land-based exercise on the Berg Balance Scale (MD 2.7, 95% CI 1.6 to 3.9), the Falls Efficacy Scale (MD -4.0, 95% CI -6.1 to -1.8) and the 39-item Parkinson's Disease Questionnaire (MD -6.0, 95% CI -11.3 to -0.6), with no other significant effects identified. The significant benefit on the Berg Balance Scale was maintained at the follow-up assessment (MD 6.3, 95% CI 2.1 to 10.5, 54 participants).
CONCLUSION
Aquatic exercise improves motor impairments in people with PD significantly more than no intervention. It also has slightly to moderately greater benefits than land-based exercise on balance capacity, fear of falling, and health-related quality of life. On other outcomes, the benefits of aquatic exercise are similar to those of land-based exercise.
TRIAL REGISTRATION
PROSPERO CRD42017077370.
Topics: Accidental Falls; Exercise Therapy; Humans; Motor Disorders; Parkinson Disease; Postural Balance; Quality of Life; Randomized Controlled Trials as Topic; Swimming Pools; Water
PubMed: 30904467
DOI: 10.1016/j.jphys.2019.02.003 -
Parkinsonism & Related Disorders May 2016This review on micrographia aims to draw the clinician's attention to non-Parkinsonian etiologies, provide clues to differential diagnosis, and summarize current... (Review)
Review
INTRODUCTION
This review on micrographia aims to draw the clinician's attention to non-Parkinsonian etiologies, provide clues to differential diagnosis, and summarize current knowledge on the phenomenology, etiology, and mechanisms underlying micrographia.
METHODS
A systematic review of the existing literature was performed.
RESULTS
Micrographia, namely small sized handwriting has long been attributed to Parkinson's disease. However, it has often been observed as part of the clinical picture of additional neurodegenerative disorders, sometimes antedating the motor signs, or following focal basal ganglia lesions without any accompanying parkinsonism, suggesting that bradykinesia and rigidity are not sine-qua-non for the development of this phenomenon. Therefore, micrographia in a patient with no signs of parkinsonism may prompt the clinician to perform imaging in order to exclude a focal basal ganglia lesion. Dopaminergic etiology in this and other cases is doubtful, since levodopa ameliorates letter stroke size only partially, and only in some patients. Parkinsonian handwriting is often characterized by lack of fluency, slowness, and less frequently by micrographia. Deviations from kinematic laws of motion that govern normal movement, including the lack of movement smoothness and inability to scale movement amplitude to the desired size, may reflect impairments in motion planning, possible loss of automaticity and reduced movement vigor.
CONCLUSIONS
The etiology, neuroanatomy, mechanisms and models of micrographia are discussed. Dysfunction of the basal ganglia circuitry induced by neurodegeneration or disruption by focal damage give rise to micrographia.
Topics: Agraphia; Basal Ganglia; Handwriting; Humans; Hypokinesia; Nerve Net; Parkinson Disease
PubMed: 26997656
DOI: 10.1016/j.parkreldis.2016.03.003 -
Neuroscience and Biobehavioral Reviews Apr 2023Freezing of gait (FOG) is a common and disabling symptom in people with Parkinson's Disease (PwPD). Although cognition is thought to be worse in PwPD who freeze, a... (Meta-Analysis)
Meta-Analysis Review
Freezing of gait (FOG) is a common and disabling symptom in people with Parkinson's Disease (PwPD). Although cognition is thought to be worse in PwPD who freeze, a comprehensive analysis of this relationship will inform future research and clinical care. This systematic review and meta-analysis compared cognition between PwPD who do and do not exhibit FOG across a range of cognitive domains and assessed the impact of disease severity and medication status on this relationship. 145 papers (n = 9010 participants) were included in the analysis, with 144 and 138 articles meeting the criteria to assess moderating effects of disease severity and medication status, respectively. PwPD who freeze exhibited worse cognition than PwPD without FOG across global cognition, executive function/attention, language, memory, and visuospatial domains. Greater disease severity and "ON" levodopa medication status moderated the FOG status-cognition relationship in global cognitive performance but not in other cognitive domains. This meta-analysis confirmed that cognition is worse in PwPD with FOG and highlights the importance of disease severity and medication status in this relationship.
Topics: Humans; Parkinson Disease; Gait Disorders, Neurologic; Cognition; Levodopa; Gait
PubMed: 36738813
DOI: 10.1016/j.neubiorev.2023.105068