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Child's Nervous System : ChNS :... Oct 2023To review the neurosurgical treatments of children with movement disorders associated with cerebral palsy (CP) during the previous decades, up to the present day. (Review)
Review
PURPOSE
To review the neurosurgical treatments of children with movement disorders associated with cerebral palsy (CP) during the previous decades, up to the present day.
METHODS
An extensive literature review was undertaken to identify important publications about this subject. My experience treating children with these disorders over the past three decades was included in the individual sections.
RESULTS
Peripheral neurotomies have been developed for children with focal spasticity. For those with spastic paraparesis, selective lumbar rhizotomies were developed, and for those with spastic quadriparesis, intrathecal baclofen infusions were developed. Both effectively alleviate spasticity in the affected extremities. Generalized dystonia associated with CP has been treated with deep brain stimulation with mild improvement, but treatment with intrathecal baclofen and intraventricular baclofen improve those movements markedly. No effective treatment has been reported for children with athetoid CP. For those with choreiform CP, deep brain stimulation may be effective but intrathecal baclofen does not appear to be.
CONCLUSION
Treatment of children with movement disorders associated with CP increased slowly in the 1970s and 1980s but accelerated rapidly in the 1990s with the introduction of lumbar dorsal rhizotomies and intrathecal baclofen. In the last 30 years, tens of thousands of children with spasticity and movement disorders associated with CP have been treated by pediatric neurosurgeons, and their care has become an integral component of current pediatric neurosurgical practice.
Topics: Child; Humans; Cerebral Palsy; Baclofen; Muscle Spasticity; Movement Disorders; Dystonia; Muscle Relaxants, Central
PubMed: 37410128
DOI: 10.1007/s00381-023-06045-5 -
Neurologia 2024Functional movement disorder (FMD), a type of functional neurological disorder, is a common reason for consultation with the neurology department. The efficacy of... (Review)
Review
INTRODUCTION
Functional movement disorder (FMD), a type of functional neurological disorder, is a common reason for consultation with the neurology department. The efficacy of physiotherapy for motor rehabilitation of these patients has been widely studied. The aim of this review is to analyse the available evidence on the effects of physiotherapy on motor symptoms, activity (gait, mobility, balance), perceived health, quality of life, and the cognitive/emotional state of patients with FMD.
METHODS
This review follows the PRISMA recommendations. Four electronic databases were searched for relevant articles. Our review included randomised controlled trials investigating the effects of a specialised physiotherapy intervention alone or in combination with other therapies as part of a multidisciplinary approach, with results compared against standard physiotherapy.
RESULTS
We reviewed 4 studies, including a total of 188 patients. We gathered data on the study population, outcome measures, protocols, and results. According to the Oxford quality scoring system, 3 studies had moderate methodological quality (3-4/5) and the remaining study presented poor methodological quality (< 3).
CONCLUSIONS
Physiotherapy improves motor symptoms, activity, perceived health, and quality of life in patients with FMD.
Topics: Humans; Physical Therapy Modalities; Quality of Life; Movement Disorders; Randomized Controlled Trials as Topic
PubMed: 37116691
DOI: 10.1016/j.nrleng.2022.01.008 -
Ageing Research Reviews Dec 2023Parkinson's disease (PD) is a progressive neurodegenerative disease with a global burden that affects more often in the elderly. The basal ganglia (BG) is believed to... (Review)
Review
Parkinson's disease (PD) is a progressive neurodegenerative disease with a global burden that affects more often in the elderly. The basal ganglia (BG) is believed to account for movement disorders in PD. More recently, new findings in the original regions in BG involved in motor control, as well as the new circuits or new nucleuses previously not specifically considered were explored. In the present review, we provide up-to-date information related to movement disorders and modulations in PD, especially from the perspectives of brain regions and neuronal circuits. Meanwhile, there are updates in deep brain stimulation (DBS) and other factors for the motor improvement in PD. Comprehensive understandings of brain regions and neuronal circuits involved in motor control could benefit the development of novel therapeutical strategies in PD.
Topics: Humans; Aged; Parkinson Disease; Neurodegenerative Diseases; Deep Brain Stimulation; Brain; Basal Ganglia
PubMed: 38511877
DOI: 10.1016/j.arr.2023.102097 -
Arquivos de Neuro-psiquiatria Nov 2023Hereditary or familial spastic paraplegias (SPG) comprise a group of genetically and phenotypically heterogeneous diseases characterized by progressive degeneration... (Review)
Review
BACKGROUND
Hereditary or familial spastic paraplegias (SPG) comprise a group of genetically and phenotypically heterogeneous diseases characterized by progressive degeneration of the corticospinal tracts. The complicated forms evolve with other various neurological signs and symptoms, including movement disorders and ataxia.
OBJECTIVE
To summarize the clinical descriptions of SPG that manifest with movement disorders or ataxias to assist the clinician in the task of diagnosing these diseases.
METHODS
We conducted a narrative review of the literature, including case reports, case series, review articles and observational studies published in English until December 2022.
RESULTS
Juvenile or early-onset parkinsonism with variable levodopa-responsiveness have been reported, mainly in SPG7 and SPG11. Dystonia can be observed in patients with SPG7, SPG11, SPG22, SPG26, SPG35, SPG48, SPG49, SPG58, SPG64 and SPG76. Tremor is not a frequent finding in patients with SPG, but it is described in different types of SPG, including SPG7, SPG9, SPG11, SPG15, and SPG76. Myoclonus is rarely described in SPG, affecting patients with SPG4, SPG7, SPG35, SPG48, and SPOAN (spastic paraplegia, optic atrophy, and neuropathy). SPG4, SPG6, SPG10, SPG27, SPG30 and SPG31 may rarely present with ataxia with cerebellar atrophy. And autosomal recessive SPG such as SPG7 and SPG11 can also present with ataxia.
CONCLUSION
Patients with SPG may present with different forms of movement disorders such as parkinsonism, dystonia, tremor, myoclonus and ataxia. The specific movement disorder in the clinical manifestation of a patient with SPG may be a clinical clue for the diagnosis.
Topics: Humans; Spastic Paraplegia, Hereditary; Mutation; Tremor; Dystonia; Movement Disorders; Ataxia; Parkinsonian Disorders; Proteins
PubMed: 38035585
DOI: 10.1055/s-0043-1777005 -
Journal of the Neurological Sciences Jan 2024Botulinum toxin (BoNT) was approved by the United States Food and Drug Administration (FDA) in 1989 for facial movement disorders and strabismus, but since that time its... (Review)
Review
Botulinum toxin (BoNT) was approved by the United States Food and Drug Administration (FDA) in 1989 for facial movement disorders and strabismus, but since that time its indications have been expanding beyond neurologic and ophthalmologic disorders. This article is a narrative review of the therapeutic use of BoNT in tremors, dystonia, sialorrhea, bladder and other autonomic symptoms, levodopa-induced dyskinesia and other problems occuring in the setting of parkinsonism. Though FDA approval is lacking for some of these indications, expert experiences have shown that BoNT is often beneficial in this group of patients.
Topics: United States; Humans; Botulinum Toxins; Parkinson Disease; Parkinsonian Disorders; Tremor; Dystonic Disorders; Botulinum Toxins, Type A
PubMed: 38056063
DOI: 10.1016/j.jns.2023.122810 -
Translational Neurodegeneration Aug 2023The accumulation of α-synuclein (α-syn), an essential step in PD development and progression, is observed not only in neurons but also in glia, including astrocytes....
BACKGROUND
The accumulation of α-synuclein (α-syn), an essential step in PD development and progression, is observed not only in neurons but also in glia, including astrocytes. The mechanisms regulating astrocytic α-syn level and aggregation remain unclear. More recently, it has been demonstrated that a part of α-syn spreading occurs through extracellular vesicles (EVs), although it is unknown whether this process is involved in astrocytes of PD. It is known, however, that EVs derived from the central nervous system exist in the blood and are extensively explored as biomarkers for PD and other neurodegenerative disorders.
METHODS
Primary astrocytes were transfected with A53T α-syn plasmid or exposed to α-syn aggregates. The level of astrocyte-derived EVs (AEVs) was assessed by nanoparticle tracking analysis and immunofluorescence. The lysosomal function was evaluated by Cathepsin assays, immunofluorescence for levels of Lamp1 and Lamp2, and LysoTracker Red staining. The Apogee assays were optimized to measure the GLT-1 AEVs in clinical cohorts of 106 PD, 47 multiple system atrophy (MSA), and 103 healthy control (HC) to test the potential of plasma AEVs as a biomarker to differentiate PD from other forms of parkinsonism.
RESULTS
The number of AEVs significantly increased in primary astrocytes with α-syn deposition. The mechanism of increased AEVs was partially attributed to lysosomal dysfunction. The number of α-syn-carrying AEVs was significantly higher in patients with PD than in HC and MSA. The integrative model combining AEVs with total and aggregated α-syn exhibited efficient diagnostic power in differentiating PD from HC with an AUC of 0.915, and from MSA with an AUC of 0.877.
CONCLUSIONS
Pathological α-syn deposition could increase the astrocytic secretion of EVs, possibly through α-syn-induced lysosomal dysfunction. The α-syn-containing AEVs in the peripheral blood may be an effective biomarker for clinical diagnosis or differential diagnosis of PD.
Topics: Humans; alpha-Synuclein; Astrocytes; Parkinson Disease; Multiple System Atrophy; Extracellular Vesicles
PubMed: 37620916
DOI: 10.1186/s40035-023-00372-y -
Movement Disorders : Official Journal... Aug 2023Genetic testing for persons with Parkinson's disease is becoming increasingly common. Significant gains have been made regarding genetic testing methods, and testing is...
Genetic testing for persons with Parkinson's disease is becoming increasingly common. Significant gains have been made regarding genetic testing methods, and testing is becoming more readily available in clinical, research, and direct-to-consumer settings. Although the potential utility of clinical testing is expanding, there are currently no proven gene-targeted therapies, but clinical trials are underway. Furthermore, genetic testing practices vary widely, as do knowledge and attitudes of relevant stakeholders. The specter of testing mandates financial, ethical, and physician engagement, and there is a need for guidelines to help navigate the myriad of challenges. However, to develop guidelines, gaps and controversies need to be clearly identified and analyzed. To this end, we first reviewed recent literature and subsequently identified gaps and controversies, some of which were partially addressed in the literature, but many of which are not well delineated or researched. Key gaps and controversies include: (1) Is genetic testing appropriate in symptomatic and asymptomatic individuals without medical actionability? (2) How, if at all, should testing vary based on ethnicity? (3) What are the long-term outcomes of consumer- and research-based genetic testing in presymptomatic PD? (4) What resources are needed for clinical genetic testing, and how is this impacted by models of care and cost-benefit considerations? Addressing these issues will help facilitate the development of consensus and guidelines regarding the approach and access to genetic testing and counseling. This is also needed to guide a multidisciplinary approach that accounts for cultural, geographic, and socioeconomic factors in developing testing guidelines. © 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
Topics: Humans; Parkinson Disease; Genetic Testing
PubMed: 37365908
DOI: 10.1002/mds.29500 -
Parkinsonism & Related Disorders Dec 2023Synucleinopathies such as Parkinson's disease (PD) and multiple system atrophy (MSA) can be challenging to diagnose due to the symptom overlap with, for example,...
INTRODUCTION
Synucleinopathies such as Parkinson's disease (PD) and multiple system atrophy (MSA) can be challenging to diagnose due to the symptom overlap with, for example, atypical parkinsonisms like progressive supranuclear palsy (PSP) and corticobasal degeneration (CBD). Seed amplification assays (SAA), developed for the detection of α-synuclein (αSyn) aggregates in CSF, have been successful when used as a biomarker evaluation for synucleinopathies. In this study, we investigated the potential of this assay to not only detect αSyn seeds in CSF, but also discriminate between movement disorders.
METHODS
The αSyn-SAA was tested in a Scandinavian cohort composed of 129 CSF samples from patients with PD (n = 55), MSA (n = 27), CBD (n = 7), and PSP (n = 16), as well as healthy controls (HC, n = 24).
RESULTS
The αSyn seed amplification assay (αSyn-SAA) was able to correctly identify all PD samples as positive (sensitivity of 100%) while also discriminating the PD group from HC (70.8% specificity, p < 0.0001) and tauopathies [CBD (71% specificity) and PSP (75% specificity), p < 0.0001)]. The αSyn-SAA was also able to identify almost all MSA samples as positive for αSyn aggregation (sensitivity of 92.6%). In general, this assay is able to discriminate between the synucleinopathies and tauopathies analyzed herein (p < 0.0001) despite the overlapping symptoms in these diseases.
CONCLUSION
These findings suggest the αSyn-SAA is a useful diagnostic tool for differentiating between different parkinsonian disorders, although further optimization may be needed.
Topics: Humans; alpha-Synuclein; Synucleinopathies; Parkinsonian Disorders; Parkinson Disease; Multiple System Atrophy; Tauopathies
PubMed: 37591709
DOI: 10.1016/j.parkreldis.2023.105807 -
Der Nervenarzt Jun 2024
Topics: Humans; Movement Disorders; Conversion Disorder; Germany
PubMed: 38874600
DOI: 10.1007/s00115-024-01646-0 -
Continuum (Minneapolis, Minn.) Aug 2023This article reviews common sleep-related movement disorders, including their clinical description, epidemiology, pathophysiology (if known), and evaluation and... (Review)
Review
OBJECTIVE
This article reviews common sleep-related movement disorders, including their clinical description, epidemiology, pathophysiology (if known), and evaluation and management strategies. This article will provide the reader with a good foundation for approaching concerns that are suggestive of sleep-related movement disorders to properly evaluate and manage these conditions.
LATEST DEVELOPMENTS
α2δ Ligands, such as gabapentin enacarbil, can be used for the initial treatment of restless legs syndrome (RLS) or in those who cannot tolerate, or have developed augmentation to, dopamine agonists. Another option is the rotigotine patch, which has a 24-hour treatment window and may be beneficial for those who have developed augmentation with short-acting dopamine agonists. IV iron can improve RLS symptoms even in those whose serum ferritin level is between 75 ng/mL and 100 ng/mL. At serum ferritin levels greater than 75 ng/mL, oral iron will likely have minimal absorption or little effect on the improvement of RLS. Research has found an association between RLS and cardiovascular disease, particularly in people who have periodic limb movements of sleep.
ESSENTIAL POINTS
RLS is the most common sleep-related movement disorder. Its pathophysiology is likely a combination of central iron deficiency, dopamine overproduction, and possibly cortical excitation. Treatment includes oral or IV iron. Dopaminergic medications can be very effective but often lead to augmentation, which limits their long-term use. Other sleep-related movement disorders to be aware of are sleep-related rhythmic movement disorder, nocturnal muscle cramps, sleep-related propriospinal myoclonus, sleep bruxism, and benign myoclonus of infancy.
Topics: Humans; Restless Legs Syndrome; Dopamine Agonists; Parasomnias; Sleep; Iron; Myoclonus; Movement Disorders; Ferritins
PubMed: 37590826
DOI: 10.1212/CON.0000000000001269