Publications by authors named "Egberto Reis Barbosa"

Article Synopsis
  • Evidence indicates that cognitive decline may contribute to freezing of gait (FOG) in Parkinson's disease (PD), with challenging exercises possibly serving as effective rehabilitation.
  • A study compared the effects of adapted resistance training with instability (ARTI) to traditional motor rehabilitation (TMR) on cognitive function and FOG severity in individuals with PD.
  • Results showed that the ARTI group experienced significant cognitive improvements and that enhancements in frontal lobe function were linked to reduced FOG severity, highlighting the potential of complex exercises in therapy for PD.
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Objectives: Altered somatosensory processing in the posterior insula may play a role in chronic pain development and contribute to Parkinson disease (PD)-related pain. Posterior-superior insula (PSI) repetitive transcranial magnetic stimulation (rTMS) has been demonstrated to have analgesic effects among patients with some chronic pain conditions. This study aimed at assessing the efficacy of PSI-rTMS for treating PD-related pain.

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Article Synopsis
  • Deep Brain Stimulation (DBS) has been FDA-approved since 2003 and is recommended for treating dystonia after other treatments, like botulinum toxin, fail.
  • A study analyzed the impact of DBS on botulinum toxin dosages in 23 dystonic patients, showing a significant reduction in medication use after surgery.
  • Pre-surgery, patients received a median of 800 units of botulinum toxin, which decreased to 700 units post-surgery, indicating a 12.5% reduction in dosage after DBS treatment.
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  • Wilson disease (WD) is a rare illness where the body has too much copper, which can harm organs.
  • The study looked at 262 patients to understand how they were diagnosed and how they responded to treatments, finding issues mostly in the liver and brain.
  • Early diagnosis is tough, but doctors should consider WD sooner for young people with certain symptoms, and alternative treatments should be included in care plans.
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Background: Gait disorders in patients with Parkinson's disease (PD) can become disabling with disease progression without effective treatment.

Objectives: To investigate the efficacy of intermittent θ burst trans-spinal magnetic stimulation (TsMS) in PD patients with gait and balance disorders.

Methods: This was a randomized, parallel, double-blind, controlled trial.

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Background: The wing-beating tremor, characteristic of Wilson's disease (WD), is a disabling symptom that can be resistant to anti-copper and anti-tremor medications.

Phenomenology Shown: This video illustrates severe bilateral wing-beating tremor, moderate head and lower limb tremors, mild cervical dystonia, and subtle cerebellar ataxia, with nearly resolution after penicillamine treatment.

Educational Value: This case highlights a typical aspect of WD, emphasizing the importance of early detection and treatment, and its correlation with MRI findings.

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Individuals with Parkinson's disease (PD) and freezing of gait (FOG) have a loss of presynaptic inhibition (PSI) during anticipatory postural adjustments (APAs) for step initiation. The mesencephalic locomotor region (MLR) has connections to the reticulospinal tract that mediates inhibitory interneurons responsible for modulating PSI and APAs. Here, we hypothesized that MLR activity during step initiation would explain the loss of PSI during APAs for step initiation in FOG (freezers).

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Background: Genetic underpinnings in Parkinson's disease (PD) and parkinsonian syndromes are challenging, and recent discoveries regarding their genetic pathways have led to potential gene-specific treatment trials.

Cases: We report 3 X-linked levodopa (l-dopa)-responsive parkinsonism-epilepsy syndrome cases due to a hemizygous variant in the phosphoglycerate kinase 1 (PGK1) gene. The likely pathogenic variant NM_000291.

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Article Synopsis
  • Corticobasal syndrome (CBS) can be linked to various underlying disorders, including those related to tau proteins, prompting the Movement Disorders Society (MDS) to introduce "probable 4R-tauopathy" to differentiate between similar conditions like progressive supranuclear palsy (PSP) and corticobasal degeneration (CBD).* -
  • In a study involving 32 CBS patients, those meeting the 4R-tauopathy criteria (CBS-4RT+) were found to have high specificity but lower sensitivity and accuracy in predicting negative amyloid-PET results compared to those who did not meet the criteria (CBS-4RT-).* -
  • CBS-4RT+ patients exhibited distinctive clinical traits (
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•Chronic spinal cord stimulation effectiveness was evaluated in four PD patients.•Double blinded cross over evaluation was performed using subthreshold stimulation.•An open label evaluation with regular suprathreshold stimulation was also performed.

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Background: Handicap is a patient-centered measure of health status that encompasses the impact of social and physical environment on daily living, having been assessed in advanced and late-stage Parkinson's Disease (PD).

Objective: To characterize the handicap of a broader sample of patients.

Methods: A cross-sectional study of 405 PD patients during the MDS-UPDRS Portuguese validation study, using the MDS-UPDRS, Unified Dyskinesias Rating Scale, Nonmotor symptoms questionnaire, PDQ-8 and EQ-5D-3L.

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Article Synopsis
  • * A study involving 35 PD patients assessed pain characteristics and found that those with nociceptive pain had lower thresholds for warm and mechanical sensations compared to those with non-nociceptive pain, indicating distinct sensory profiles.
  • * The research suggests that understanding these different pain subtypes could help improve future treatments tailored to individual patients, as there are notable differences in pain experiences and sensations among PD patients.
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Background: Dystonia is associated with disabling nonmotor symptoms like chronic pain (CP), which is prevalent in dystonia and significantly impacts the quality of life (QoL). There is no validated tool for assessing CP in dystonia, which substantially hampers pain management.

Objective: The aim was to develop a CP classification and scoring system for dystonia.

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Background: Deep Brain Stimulation (DBS) is an established treatment option for refractory dystonia, but the improvement among the patients is variable.

Objective: To describe the outcomes of DBS of the subthalamic region (STN) in dystonic patients and to determine whether the volume of tissue activated (VTA) inside the STN or the structural connectivity between the area stimulated and different regions of the brain are associated with dystonia improvement.

Methods: The response to DBS was measured by the Burke-Fahn-Marsden Dystonia Rating Scale (BFM) before and 7 months after surgery in patients with generalized isolated dystonia of inherited/idiopathic etiology.

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Introduction/aim: Clinical worsening has been common in people with Parkinson's disease (PD) during the social distancing due to pandemic. It is unclear if telerehabilitation applied during social distancing preserves clinical aspects of people with PD who are frequent exercisers before the pandemic. Thus, we compared the effects of 10 months of supervised, home-based, real-time videoconferencing telerehabilitation (SRTT) and nonexercising control on clinical aspects in people with PD who are frequent exercisers before the pandemic.

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Individuals with Parkinson's disease (PD) and freezing of gait (FOG) have difficulty initiating and maintaining a healthy gait pattern; however, the relationship among FOG severity, gait initiation, and gait automaticity, in addition to the neural substrate of this relationship has not been investigated. This study investigated the association among FOG severity during turning (FOG-ratio), gait initiation (anticipatory postural adjustment [APA]), and gait automaticity (dual-task cost [DTC]), and the neural substrates of these associations. Thirty-four individuals with FOG of PD were assessed in the ON-medication state.

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Background: Parkinson's disease (PD) is a complex neurodegenerative condition. Treatment strategies through all stages of disease progression could affect quality of life and influence the development of future complications, making it crucial for the clinician to be on top of the literature.

Objective: This paper reviews the current treatment of PD, from early to advanced stages.

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Background: DYT-TUBB4A, formerly known as DYT4, has not been comprehensively described as only one large family and three individual cases have been published. We have recently described an in depth genetic and protein structural analysis of eleven additional cases from four families with four new pathogenic variants. We aim to report on the phenomenology of these cases suffering from DYT-TUBB4A and to perform a comprehensive review of the clinical presentation and treatment responses of all DYT-TUBB4A cases reported in the literature.

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Introduction: Parkinson's disease (PD)-associated inner retinal abnormalities, particularly the retinal ganglion cells (RGC) layer, on optical coherence tomography (OCT) have recently gained importance as a biomarker of non-motor involvement of the disease but functional RGC evaluation using photopic negative response (PhNR) has not yet been determined. This study aims to compare structural and functional findings of the retina and optic nerve in PD with healthy controls (CT) including PhNR and OCT.

Methods: Forty-one eyes of 21 PD patients and 38 eyes of 19 CT underwent ophthalmic examination including visual contrast sensitivity test (CS), OCT, light-adapted full-field electroretinography (ffERG), and PhNR.

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