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NeuroImage. Clinical 2023Hyperkinetic movement disorders (HMD) manifest as abnormal and uncontrollable movements. Despite reported involvement of several neural circuits, exact connectivity... (Review)
Review
BACKGROUND
Hyperkinetic movement disorders (HMD) manifest as abnormal and uncontrollable movements. Despite reported involvement of several neural circuits, exact connectivity profiles remain elusive.
OBJECTIVES
Providing a comprehensive literature review of resting-state brain connectivity alterations using resting-state fMRI (rs-fMRI). We additionally discuss alterations from the perspective of brain networks, as well as correlations between connectivity and clinical measures.
METHODS
A systematic review was performed according to PRISMA guidelines and searching PubMed until October 2022. Rs-fMRI studies addressing ataxia, chorea, dystonia, myoclonus, tics, tremor, and functional movement disorders (FMD) were included. The standardized mean difference was used to summarize findings per region in the Automated Anatomical Labeling atlas for each phenotype. Furthermore, the activation likelihood estimation meta-analytic method was used to analyze convergence of significant between-group differences per phenotype. Finally, we conducted hierarchical cluster analysis to provide additional insights into commonalities and differences across HMD phenotypes.
RESULTS
Most articles concerned tremor (51), followed by dystonia (46), tics (19), chorea (12), myoclonus (11), FMD (11), and ataxia (8). Altered resting-state connectivity was found in several brain regions: in ataxia mainly cerebellar areas; for chorea, the caudate nucleus; for dystonia, sensorimotor and basal ganglia regions; for myoclonus, the thalamus and cingulate cortex; in tics, the basal ganglia, cerebellum, insula, and frontal cortex; for tremor, the cerebello-thalamo-cortical circuit; finally, in FMD, frontal, parietal, and cerebellar regions. Both decreased and increased connectivity were found for all HMD. Significant spatial convergence was found for dystonia, FMD, myoclonus, and tremor. Correlations between clinical measures and resting-state connectivity were frequently described.
CONCLUSION
Key brain regions contributing to functional connectivity changes across HMD often overlap. Possible increases and decreases of functional connections of a specific region emphasize that HMD should be viewed as a network disorder. Despite the complex interplay of physiological and methodological factors, this review serves to gain insight in brain connectivity profiles across HMD phenotypes.
Topics: Humans; Tremor; Myoclonus; Tics; Dystonia; Magnetic Resonance Imaging; Chorea; Hyperkinesis; Brain; Brain Mapping; Dystonic Disorders; Ataxia; Neural Pathways
PubMed: 36669351
DOI: 10.1016/j.nicl.2022.103302 -
Pediatric Physical Therapy : the... Apr 2023To systematically review current evidence on the physical therapy assessment, intervention, and prognosis of congenital muscular torticollis (CMT) to inform the update...
PURPOSE
To systematically review current evidence on the physical therapy assessment, intervention, and prognosis of congenital muscular torticollis (CMT) to inform the update to the 2018 CMT Clinical Practice Guideline (CPG).
METHODS
Six databases were searched for studies that informed assessment, intervention, and prognosis for physical therapy management of infants with CMT.
RESULTS
Fifteen studies were included. Four studies investigated the psychometric properties of new and established assessments. Six studies informed the feasibility and efficacy of first-choice and supplemental interventions including traditional Chinese medicine and neural and visceral manipulation. One qualitative study found that parents of infants with mild and severe CMT had different concerns. Five studies informed prognosis, including factors associated with treatment duration, clinical outcomes, and use of supplemental interventions.
CONCLUSION
Newer evidence reaffirms 5 of 17 recommendations of the 2018 CMT CPG and could increase the recommendation strength to strong for neck passive range of motion.
Topics: Infant; Humans; Torticollis; Muscular Diseases; Neck; Physical Therapy Modalities
PubMed: 36637442
DOI: 10.1097/PEP.0000000000000993 -
Acta Neurologica Belgica Dec 2023
Topics: Humans; Brain Neoplasms; Dystonic Disorders; Torticollis; Female; Adult
PubMed: 36630079
DOI: 10.1007/s13760-023-02179-0 -
Asian Journal of Psychiatry Feb 2023We reviewed trials examining the efficacy of repetitive transcranial magnetic stimulation (rTMS) (seven trials) and transcranial direct current stimulation (tDCS) (seven...
We reviewed trials examining the efficacy of repetitive transcranial magnetic stimulation (rTMS) (seven trials) and transcranial direct current stimulation (tDCS) (seven trials) in focal and dystonia (FHD). Among tDCS trials, one randomized controlled trial and three quasi-experimental studies showed evidence of efficacy; these trials combined different types of stimulations or used tDCS along with neurorehabilitation. Four rTMS trials showed evidence of efficacy but differed in stimulation parameters. Risk of bias was noted in nearly all the trials. There is weak and inconsistent evidence for the efficacy of rTMS and tDCS administered alone or with other interventions in FHD.
Topics: Humans; Dystonia; Dystonic Disorders; Transcranial Direct Current Stimulation; Transcranial Magnetic Stimulation; Randomized Controlled Trials as Topic
PubMed: 36603324
DOI: 10.1016/j.ajp.2022.103437 -
Therapeutic Advances in Neurological... 2022Deep brain stimulation is a highly effective treatment of dystonia but is invasive and associated with risks, such as intraoperative bleeding and infections. Previous...
BACKGROUND
Deep brain stimulation is a highly effective treatment of dystonia but is invasive and associated with risks, such as intraoperative bleeding and infections. Previous research has used non-invasive brain stimulation (NIBS) in an attempt to alleviate symptoms of dystonia. The results of these studies, however, have been variable, leaving efficacy unclear.
OBJECTIVES
This study aimed to evaluate the effects of NIBS on symptoms of dystonia and determine whether methodological characteristics are associated with variability in effect size.
METHODS
Web of Science, Embase, and MEDLINE Complete databases were searched for articles using any type of NIBS as an intervention in dystonia patients, with changes in dystonia symptoms the primary outcome of interest.
RESULTS
Meta-analysis of 27 studies demonstrated a small effect size for NIBS in reducing symptoms of dystonia (random-effects Hedges' = 0.21, = .002). Differences in the type of NIBS, type of dystonia, and brain region stimulated had a significant effect on dystonia symptoms. Meta-regression revealed that 10 sessions of active stimulation and the application of concurrent motor training programs resulted in significantly larger mean effect sizes.
CONCLUSION
NIBS has yielded small improvements to dystonic symptoms, but effect sizes depended on methodological characteristics, with more sessions of stimulation producing a larger response. Future research should further investigate the application of NIBS parallel to motor training, in addition to providing a greater quantity of sessions, to help define optimal parameters for NIBS protocols in dystonia.
REGISTRATION
PROSPERO 2020, CRD42020175944.
PubMed: 36583118
DOI: 10.1177/17562864221138144 -
Neurology International Dec 2022Dopamine Responsive Dystonia (DRD) and Juvenile Parkinsonism (JP) are two diseases commonly presenting with parkinsonian symptoms in young patients. Current clinical... (Review)
Review
BACKGROUND
Dopamine Responsive Dystonia (DRD) and Juvenile Parkinsonism (JP) are two diseases commonly presenting with parkinsonian symptoms in young patients. Current clinical guidelines offer a diagnostic approach based on molecular analysis. However, developing countries have limitations in terms of accessibility to these tests. We aimed to assess the utility of imaging equipment, usually more available worldwide, to help diagnose and improve patients' quality of life with these diseases.
METHODS
We performed a systematic literature review in English using the preferred reporting items for systematic reviews and meta-analyses (PRISMA) and meta-analysis of observational studies in epidemiology (MOOSE) protocols. We only used human clinical trials about dopamine responsive dystonia and juvenile parkinsonism patients in which a fluorodopa (FD) positron emission tomography (PET) scan was performed to identify its use in these diseases.
RESULTS
We included six studies that fulfilled our criteria. We found a clear pattern of decreased uptake in the putamen and caudate nucleus in JP cases. At the same time, the results in DRD were comparable to normal subjects, with only a slightly decreased marker uptake in the previously mentioned regions by the FD PET scan.
CONCLUSIONS
We found a distinctive pattern for each of these diseases. Identifying these findings with FD PET scans can shorten the delay in making a definitive diagnosis when genetic testing is unavailable, a common scenario in developing countries.
PubMed: 36548184
DOI: 10.3390/neurolint14040079 -
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 -
Toxins Nov 2022Physiotherapy is mentioned as an adjunctive treatment to improve the symptoms of cervical dystonia in terms of pain, function and quality of life. However, botulinum... (Review)
Review
Physiotherapy is mentioned as an adjunctive treatment to improve the symptoms of cervical dystonia in terms of pain, function and quality of life. However, botulinum neurotoxin injection remains the treatment of choice. This systematic review emphasizes physical therapy and evaluates it by including six studies. The methodology is based on a previous systematic review on this topic to provide better comparability and actuality. For this purpose, two databases were searched using the previously published keywords. This time, only randomised controlled trials were evaluated to increase the power. In conclusion, additional physical therapy and active home exercise programs appear to be useful. Further research should focus on the dose-response principle to emphasize physical therapy treatment modalities.
Topics: Humans; Torticollis; Quality of Life; Physical Therapy Modalities; Botulinum Toxins; Exercise Therapy
PubMed: 36422957
DOI: 10.3390/toxins14110784 -
Journal of Neurosurgery Jun 2023Stroke remains the leading cause of disability in the United States. Even as acute care for strokes advances, there are limited options for improving function once the...
OBJECTIVE
Stroke remains the leading cause of disability in the United States. Even as acute care for strokes advances, there are limited options for improving function once the patient reaches the subacute and chronic stages. Identification of new therapeutic approaches is critical. Deep brain stimulation (DBS) holds promise for these patients. A number of case reports and small case series have reported improvement in movement disorders after strokes in patients treated with DBS. In this systematic review, the authors have summarized the patient characteristics, anatomical targets, stimulation parameters, and outcomes of patients who have undergone DBS treatment for poststroke movement disorders.
METHODS
The Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines were followed. The PubMed, Scopus, and SpringerLink databases were searched for the keywords "DBS," "stroke," "movement," and "recovery" to identify patients treated with DBS for movement disorders after a stroke. The Joanna Briggs Institute Critical Appraisal checklists for case reports and case series were used to systematically analyze the quality of the included studies. Data collected from each study included patient demographic characteristics, stroke diagnosis, movement disorder, DBS target, stimulation parameters, complications, and outcomes.
RESULTS
The authors included 29 studies that described 53 patients who underwent placement of 82 total electrodes. Movement disorders included tremor (n = 18), dystonia (n = 18), hemiballism (n = 6), spastic hemiparesis (n = 1), chorea (n = 1), and mixed disorders (n = 9). The most common DBS targets were the globus pallidus internus (n = 32), ventral intermediate nucleus of thalamus (n = 25), and subthalamic area/subthalamic nucleus (n = 7). Monopolar stimulation was reported in 43 leads and bipolar stimulation in 13. High-frequency stimulation was used in 57 leads and low-frequency stimulation in 6. All patients but 1 had improvement in their movement disorders. Two complications were reported: speech impairment in 1 patient and hardware infection in another. The median (interquartile range) duration between stroke and DBS treatment was 6.5 (2.1-15.8) years.
CONCLUSIONS
This is the first systematic review of DBS for poststroke movement disorders. Overall, most studies to date have been case reports and small series reporting heterogeneous patients and surgical strategies. This review suggests that DBS for movement disorders after a stroke has the potential to be effective and safe for diverse patients, and DBS may be a feasible option to improve function even years after a stroke.
PubMed: 36308482
DOI: 10.3171/2022.8.JNS221334 -
Tremor and Other Hyperkinetic Movements... 2022The significance of falls and their repercussions in Parkinson's disease has been extensively researched. However, despite potentially serious effects on health and... (Review)
Review
BACKGROUND
The significance of falls and their repercussions in Parkinson's disease has been extensively researched. However, despite potentially serious effects on health and quality of life and negative impact on the healthcare system, there is not a sufficient understanding of the role of falls in hyperkinetic movement disorders (HKMDs). This review aims to provide an overview of the prevalence of falls, injuries, and preventive measures in the most common HKMDs.
METHODS
Studies up to May 1, 2022 were searched in PubMed using Medical Subjects Headings of relatively prevalent HKMDs associated with the terms "accidental falls", "injuries", "fractures", and "accident prevention".
RESULTS
In our review of 37 studies out of 155, we found evidence that for several HKMDs, such as spinocerebellar ataxia, essential tremor, Huntington's disease, and dystonia, fall risk is increased. Falls were reported in up to 84% of spinocerebellar ataxia patients, 59% of essential tremor patients, and 79% of Huntington's patients, with 65% of the latter falling frequently. Injuries occurred in up to 73% in Huntington and 74% in ataxia patients. Most of the common diseases characterized by HKMDs were investigated for both fall causes and consequences, but prevention studies were limited to spinocerebellar ataxia and Huntington's disease.
DISCUSSION
The limited available data suggest that patients with several HKMDs can be considered to be at increased risk of falling and that the consequences can be serious. As a result, physicians should be advised to include fall exploration in their routine workup and provide advice for safer mobility. In general, more research into fall-related concerns in HKMDs is necessary.
HIGHLIGHTS
In contrast to Parkinson's disease, the prevalence of accidental falls, their repercussions, and preventive strategies are under-investigated in hyperkinetic movement disorders (HKMDs). Several HKMDs such as essential tremor, ataxia, and Huntington's disease have reported fall rates of up to 84% and fall-related injury rates of up to 74%. Therefore, routine examinations of HKMD patients should include a fall exploration and provide advice on safe mobility.
Topics: Humans; Accidental Falls; Essential Tremor; Parkinson Disease; Huntington Disease; Hyperkinesis; Quality of Life; Ataxia; Spinocerebellar Ataxias
PubMed: 36303814
DOI: 10.5334/tohm.709