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Neurological Sciences : Official... Mar 2023Hereditary spastic paraplegia (HSP) is a rare genetic disorder associated with mutations in > 80 loci designated SPG (SPastic parapleGia). The phenotypic spectrum of... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Hereditary spastic paraplegia (HSP) is a rare genetic disorder associated with mutations in > 80 loci designated SPG (SPastic parapleGia). The phenotypic spectrum of HSP can extend to include other neurologic features, including movement disorders. Our aim was to investigate genotype-phenotype associations in HSP with a focus on movement disorders.
METHODS
We performed a systematic review and individual participant data (IPD)-level meta-analysis by retrieving publications from Medline/EMBASE/Web of Science on HSP with a SPG genotype. Studies were included only if individual-level information was accessible and at least one patient with a movement disorder was reported for that genotype. Out of 21,957 hits, 192 manuscripts with a total of 1413 HSP cases were eligible. Data were compared between two HSP groups: manifested with (HSP-MD, n = 767) or without (HSP-nMD, n = 646) a movement disorder.
RESULTS
The HSP-MD group had an older age of onset (20.5 ± 16.0 vs. 17.1 ± 14.2 yr, p < 0.001) and less frequent autosomal dominant inheritance (7.6% vs. 30.1%, p < 0.001) compared to HSP-nMD. SPG7 (31.2%) and SPG11 (23.8%) were the most frequent genotypes in the HSP-MD group. HSP-MD with SPG7 had higher frequency of later onset during adulthood (82.9% vs. 8.5%), ataxia (OR = 12.6), extraocular movement disturbances (OR = 3.4) and seizure (OR = 3.7) compared to HSP-MD with SPG11. Conversely, SPG11 mutations were more frequently associated with consanguinity (OR = 4.1), parkinsonism (OR = 7.8), dystonia (OR = 5.4), peripheral neuropathy (OR = 26.9), and cognitive dysfunction (OR = 34.5).
CONCLUSION
This systematic IPD-level meta-analysis provides the largest data on genotype-phenotype associations in HSP-MD. Several clinically relevant phenotypic differences were found between various genotypes, which can possibly facilitate diagnosis in resource-limited settings.
Topics: Humans; Spastic Paraplegia, Hereditary; Paraplegia; Mutation; Movement Disorders; Phenotype; Proteins
PubMed: 36441344
DOI: 10.1007/s10072-022-06516-8 -
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 -
Journal of Parkinson's Disease 2023Multiple observational studies have yielded controversial results regarding the association between Parkinson's disease (PD) and periodontitis. (Meta-Analysis)
Meta-Analysis
BACKGROUND
Multiple observational studies have yielded controversial results regarding the association between Parkinson's disease (PD) and periodontitis.
OBJECTIVE
This systematic review and meta-analysis was conducted to ascertain their bidirectional relationship.
METHODS
A literature search for relevant studies was performed in PubMed, EMBASE, the Cochrane Library, and Web of Science databases from inception to December 19, 2022. Effect sizes (ES) with 95% confidence intervals were pooled under the random-effects model. Then, leave-one-out sensitivity analysis and contour-enhanced funnel plot were applied to assess the stability of the results.
RESULTS
A total of 34 studies and 24 studies were included for systematic review and quantitative meta-analysis, respectively. Pooled ES indicated that periodontitis was not significantly associated with PD risk (HR = 1.13, 95% CI 0.88-1.45, n = 3; OR = 1.94, 95% CI 0.55-6.90, n = 7), while the Mendelian randomization study revealed no association between PD and periodontitis risk (coefficient [B] = -0.0001, standard error = 0.0001, p = 0.19). Furthermore, PD patients exhibited higher levels of periodontal pocket depth (SMD = 1.10, 95% CI 0.53-1.67), clinical attachment level (SMD = 1.40, 95% CI 0.55-2.26), plaque index (SMD = 0.81, 95% CI 0.22-1.39), and Oral Health Impact Profile-14 score (SMD = 0.91, 95% CI 0.33-1.49) compared to healthy controls.
CONCLUSIONS
Our meta-analysis identified no bidirectional association between PD risk and periodontitis risk, though the prevalence of periodontitis and poorer oral status was higher in PD patients.
Topics: Humans; Parkinson Disease; Periodontitis; Prevalence
PubMed: 37899063
DOI: 10.3233/JPD-230059 -
Movement Disorders : Official Journal... Feb 2022Pathogenic variants in 5 genes (GCH1, TH, PTS, SPR, and QDPR), involved in dopamine/tetrahydrobiopterin biosynthesis or recycling, have been linked to Dopa-responsive... (Review)
Review
BACKGROUND
Pathogenic variants in 5 genes (GCH1, TH, PTS, SPR, and QDPR), involved in dopamine/tetrahydrobiopterin biosynthesis or recycling, have been linked to Dopa-responsive dystonia (DRD). Diagnosis and treatment are often delayed due to high between- and within-group variability.
OBJECTIVES
Comprehensively analyzed individual genotype, phenotype, treatment response, and biochemistry information.
METHODS
734 DRD patients and 151 asymptomatic GCH1 mutation carriers were included using an MDSGene systematic literature review and an automated classification approach to distinguish between different forms of monogenic DRDs.
RESULTS
Whereas dystonia, L-Dopa responsiveness, early age at onset, and diurnal fluctuations were identified as red flags, parkinsonism without dystonia was rarely reported (11%) and combined with dystonia in only 18% of patients. While sex was equally distributed in autosomal recessive DRD, there was female predominance in autosomal dominant DYT/PARK-GCH1 patients accompanied by a lower median age at onset and more dystonia in females compared to males. Accordingly, the majority of asymptomatic heterozygous GCH1 mutation carriers (>8 years of age) were males. Multiple other subgroup-specific characteristics were identified, showing high accuracy in the automated classification approach: Seizures and microcephaly were mostly seen in DYT/PARK-PTS, autonomic symptoms appeared commonly in DYT/PARK-TH and DYT/PARK-PTS, and sleep disorders and oculogyric crises in DYT/PARK-SPR. Biochemically, homovanillic acid and 5-hydroxyindoleacetic acid in CSF were reduced in most DRDs, but neopterin and biopterin were increased only in DYT/PARK-PTS and DYT/PARK-SPR. Hyperphenylalaninemia was seen in DYT/PARK-PTS, DYT/PARK-QDPR, and rarely reported in autosomal recessive DYT/PARK-GCH1.
CONCLUSIONS
Our indicators will help to specify diagnosis and accelerate start of treatment. © 2021 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
Topics: Dystonia; Dystonic Disorders; Female; GTP Cyclohydrolase; Genotype; Humans; Male; Phenotype
PubMed: 34908184
DOI: 10.1002/mds.28874 -
Parkinsonism & Related Disorders Sep 2023The human immunodeficiency virus (HIV) causes movement disorders in persons living with HIV (PLH). (Review)
Review
BACKGROUND
The human immunodeficiency virus (HIV) causes movement disorders in persons living with HIV (PLH).
OBJECTIVES AND METHODS
We conducted a systematic review on the spectrum of movement disorders in PLH using standard terms for each of the phenomenologies and HIV.
RESULTS
Movement disorders in PLH were commonly attributed to opportunistic infections (OI), dopamine receptor blockade reactions, HIV-associated dementia (HAD), presented during seroconversion, developed due to drug reactions or antiretroviral therapy (ART) itself and lastly, movement disorders occurred as a consequence of the HIV-virus. Parkinsonism in ART naïve PLH was associated with shorter survival, however when Parkinsonism presented in PLH on ART, the syndrome was indistinguishable from Idiopathic Parkinson's disease and responded to therapy. Tremor was often postural due to HAD, drugs or OI. Generalized chorea was most frequent in HIV encephalopathy and toxoplasmosis gondii caused most cases of hemichorea. Ataxia was strongly associated with JCV infection, ART efavirenz toxicity or due to HIV itself. Dystonia was reported in HAD, secondary to drugs and atypical facial dystonias. Both cortical/subcortical and segmental/spinal origin myoclonus were noted mainly associated with HAD. In patients with HIV related opsoclonus-myoclonus-ataxia-syndrome, seroconversion illness was the commonest cause of followed by IRIS and CSF HIV viral escape phenomenon.
CONCLUSIONS
Aetiology of movement disorders in PLH depend on the treatment state. Untreated, PLH are prone to develop OI and HAD and movement disorders. However, as the number of PLH on ART increase and survive longer, the frequency of ART and non-AIDS related complications are likely to increase.
Topics: Humans; HIV; Myoclonus; Movement Disorders; HIV Infections; Parkinson Disease; Parkinsonian Disorders; Ataxia
PubMed: 37532621
DOI: 10.1016/j.parkreldis.2023.105774 -
Epilepsy & Behavior : E&B Jun 2022New-onset movement disorders have been frequently reported in association with the use of antiseizure medications (ASMs). The frequency of specific motor manifestations... (Review)
Review
New-onset movement disorders have been frequently reported in association with the use of antiseizure medications (ASMs). The frequency of specific motor manifestations and the spectrum of their semiology for various ASMs have not been well characterized. We carried out a systematic review of literature and conducted a search on CINAHL, Cochrane Library, EMBASE, MEDLINE, PsycINFO, and Scopus from inception to April 2021. We compiled the data for all currently available ASMs using the conventional terminology of movement disorders. Among 5123 manuscripts identified by the search, 437 met the inclusion criteria. The largest number of reports of abnormal movements were in association with phenobarbital, valproic acid, lacosamide, and perampanel, and predominantly included tremor and ataxia. The majority of attempted interventions for all agents were discontinuation of the offending drug or dose reduction which led to the resolution of symptoms in most patients. Familiarity with the movement disorder phenomenology previously encountered in relation with specific ASMs facilitates early recognition of adverse effects and timely institution of targeted interventions.
Topics: Anticonvulsants; Humans; Lacosamide; Movement Disorders; Phenobarbital; Valproic Acid
PubMed: 35483204
DOI: 10.1016/j.yebeh.2022.108693 -
Parkinsonism & Related Disorders Sep 2021Gastrointestinal (GI) disorders have been thoroughly investigated in hypokinetic disorders such as Parkinson's disease, but much less is known about GI disorders in...
BACKGROUND
Gastrointestinal (GI) disorders have been thoroughly investigated in hypokinetic disorders such as Parkinson's disease, but much less is known about GI disorders in hyperkinetic movement disorders and ataxia. The aim of this review is to draw attention to the GI disorders that are associated with these movement disorders.
METHODS
References for this systematic review were identified by searches of PubMed through May 2020. Only publications in English were reviewed.
RESULTS
Data from 249 articles were critically reviewed, compared, and integrated. The most frequently reported GI symptoms overall in hyperkinetic movement disorders and ataxia are dysphagia, sialorrhea, weight changes, esophago-gastritis, gastroparesis, constipation, diarrhea, and malabsorption. We report in detail on the frequency, characteristics, pathophysiology, and management of GI symptoms in essential tremor, restless legs syndrome, chorea, and spinocerebellar ataxias. The limited available data on GI disorders in dystonias, paroxysmal movement disorders, tardive dyskinesias, myoclonus, and non-SCA ataxias are also summarized.
CONCLUSION
The purpose of our systematic review is to draw attention that, although primarily motor disorders, hyperkinetic movement disorders and ataxia can involve the GI system. Raising awareness about the GI symptom burden in hyperkinetic movement disorders and ataxia could contribute to a new research interest in that field, as well as improved patient care.
Topics: Ataxia; Gastrointestinal Diseases; Gastrointestinal Tract; Humans; Hyperkinesis; Movement Disorders
PubMed: 34544654
DOI: 10.1016/j.parkreldis.2021.09.005 -
Social Neuroscience Dec 2023Numerous lines of research indicate that our social brain involves a network of cortical and subcortical brain regions that are responsible for sensing and controlling... (Review)
Review
Numerous lines of research indicate that our social brain involves a network of cortical and subcortical brain regions that are responsible for sensing and controlling body movements. However, it remains unclear whether movement disorders have a systematic impact on social cognition. To address this question, we conducted a systematic review examining the influence of hyperkinetic movement disorders (including Huntington disease, Tourette syndrome, dystonia, and essential tremor) on social cognition. Following the PRISMA guidelines and registering the protocol in the PROSPERO database (CRD42022327459), we analyzed 50 published studies focusing on theory of mind (ToM), social perception, and empathy. The results from these studies provide evidence of impairments in ToM and social perception in all hyperkinetic movement disorders, particularly during the recognition of negative emotions. Additionally, individuals with Huntington's Disease and Tourette syndrome exhibit empathy disorders. These findings support the functional role of subcortical structures (such as the basal ganglia and cerebellum), which are primarily responsible for movement disorders, in deficits related to social cognition.
Topics: Humans; Social Cognition; Hyperkinesis; Tourette Syndrome; Social Perception; Movement Disorders; Theory of Mind; Cognition; Emotions
PubMed: 37580305
DOI: 10.1080/17470919.2023.2248687 -
Journal of Neurology, Neurosurgery, and... Jul 2020Self-injurious behaviours (SIBs) are defined as deliberate, repetitive and persistent behaviours that are directed towards the body and lead to physical injury and are...
Self-injurious behaviours (SIBs) are defined as deliberate, repetitive and persistent behaviours that are directed towards the body and lead to physical injury and are not associated with sexual arousal and without suicidal intent. In movement disorders, SIBs are typically associated with tic disorders, most commonly Tourette syndrome, and neurometabolic conditions, such as classic Lesch-Nyhan syndrome. However, beyond these well-known aetiologies, a range of other movement disorder syndromes may also present with SIBs, even though this clinical association remains less well-known. Given the scarcity of comprehensive works on this topic, here we performed a systematic review of the literature to delineate the spectrum of movement disorder aetiologies associated with SIBs. We report distinct aetiologies, which are clustered in five different categorical domains, namely, neurodevelopmental, neurometabolic and neurodegenerative disorders, as well as disorders with characteristic structural brain changes and heterogeneous aetiologies (eg, autoimmune and drug-induced). We also provide insights in the pathophysiology of SIBs in these patients and discuss neurobiological key risk factors, which may facilitate their manifestation. Finally, we provide a list of treatments, including practical measures, such as protective devices, as well as behavioural interventions and pharmacological and neurosurgical therapies.
Topics: Humans; Movement Disorders; Self-Injurious Behavior
PubMed: 32430438
DOI: 10.1136/jnnp-2019-322569 -
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