Egberto Reis Barbosa

Chorea is a rare manifestation of Wilson's disease (WD), resulting from copper-induced dysfunction of the basal ganglia. We herein report the case of a 22-year-old woman with progressive dysarthria and generalized chorea, later confirmed as WD. After 1 year of penicillamine therapy, she showed marked clinical improvement, with only residual chorea in the right upper limb. A 7-Tesla (7-T) magnetic resonance imaging (MRI) scan revealed predominant involvement of the left basal ganglia and corticospinal tract, including the hyperintense globus pallidus rim sign. This case highlights chorea as a potential initial manifestation of WD and reinforces its reversibility with the appropriate treatment.

Deep brain stimulation (DBS) is a treatment for dystonia, with most trials conducted in developed countries. Data from developing countries like Brazil are limited. To evaluate the landscape of DBS for dystonia in Brazil, assessing motor outcomes compared with the existing literature. A retrospective multicenter cohort study was conducted via medical record review. Demographics and motor outcomes were collected and analyzed using the Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) from patients across four of Brazil's five macro-regions. The cohort included 60 patients (44.3% female), with DBS primarily targeting the globus pallidus internus (73.3%) or subthalamic nucleus (18.3%). The BFMDRS motor scores decreased from 63.0 ± 26.2 (n = 24) at baseline to 36.7 ± 24.6 at 1-year post-DBS (n = 22, p = 0.0018) and 43.6 ± 35.0 at the last assessment (n = 13, p = 0.0327). The use of DBS yielded significant, sustained motor improvements, consistent with developed countries, highlighting its feasibility and effectiveness in Brazil within diverse healthcare settings.

The etiology of Parkinson's disease (PD) is complex and multifactorial, depending on interactions involving environmental/lifestyle and genetic factors. The genetic aspects of the disease are becoming well characterized, while the environmental factors still need further investigation. In the present narrative review, we have described the most concrete evidence of associations between environmental factors and the risk of developing PD. Physical activity, healthy dietary patterns, smoking, and caffeine intake are protective factors against PD. Head trauma, consumption of milk and dairy products, and pesticide exposure were associated with a higher risk of developing PD. The associations of alcohol consumption, living in rural areas, farming, and consumption of well water with PD are still controversial. Results of several studies strongly suggest that diabetes mellitus is a risk factor for the development of PD, as well as the pre-diabetic state. Lower serum levels of uric acid were associated with an increased risk of developing PD and with worse clinical features and faster progression of symptoms. The protective effects of nonsteroidal antiinflammatory drugs use are controversial. Several other factors were potentially associated with the risk of developing PD: environmental pollutants such as organic solvents, exposure to sunlight, vitamin D deficiency, bullous pemphigoid, bipolar disorder, inflammatory bowel disease, irritable bowel syndrome, certain infections and agents, and essential tremor. Environmental factors are important risk markers for the development of PD. Understanding these risks and protective factors could lead to the implementation of risk-modifying actions for PD.

Research into Wilson's disease (WD) in Brazil had the effective participation of Professor Horácio Martins Canelas, from the Neurologic Clinic of the Teaching Hospital of the School of Medicine of Universidade de São Paulo (USP). His exponential contributions to the study of WD placed Brazil on the international stage, making USP's Neurologic Clinic one of the world's leading research centers in the area of neurodegenerative diseases with metal accumulation.

Background: Evidence has suggested that cognitive decline may be a risk factor for freezing of gait (FOG) in Parkinson’s disease (PD). Complex and challenging exercises have been suggested as potential rehabilitation strategies to decrease FOG severity and improve cognition; however, it is unknown whether improvement in cognition would explain decreased FOG severity following exercise. Objective: In this secondary analysis, we evaluated the effects of the adapted resistance training with instability (ARTI-complex and challenging exercises) compared with traditional motor rehabilitation (TMR-without challenging exercises) on cognitive function in people with FOG of PD. We also verified whether cognitive improvement explains the decrease in FOG previously published. Methods: Participants were randomized to either the experimental group (ARTI, n = 17) or the active control group (TMR, n = 15). Both training groups exercised 3 times a week for 12 weeks (80-90 minute each session). FOG severity (FOG ratio from inertial sensors during a 360° turning-in-place task), frontal lobe function (Frontal Assessment Battery [FAB]), global cognition (Montreal Cognitive Assessment [MoCA]), and attention and psychomotor speed (Digit Symbol Substitution Test [DSST]) were evaluated before and after interventions. Results: Only the ARTI group improved FAB, MoCA, and DSST scores at posttraining. In addition, ARTI was more effective than TMR in improving FAB scores at posttraining. The changes in FAB scores explained the changes in FOG ratio following ARTI ( R² = .43, P < .01). Conclusions: This pilot study suggests that ARTI, a complex and challenging training, improves cognition in people with FOG of PD. Improvements in frontal lobe function with ARTI help explain decreased FOG severity.

Deep Brain Stimulation (DBS) is a recognized treatment for different dystonia subtypes and has been approved by the Food and Drug Administration (FDA) since 2003. The European Federation of Neurological Societies (EFNS) and the International Parkinson and Movement Disorders Society (MDS) recommend DBS for dystonia after failure of botulinum toxin (BoNT) and other oral medications for dystonia treatment. In addition, several long-term studies have demonstrated the continuous efficacy of DBS on motor and quality of life (QoL) scores. However, there are only a few reports comparing the overall impact of surgical treatment in BoNT protocols (e.g., dosage and number of selected muscles before and after surgery). This retrospective multicenter chart-review study analyzed botulinum toxin total dosage and dosage per muscle in 23 dystonic patients before and after DBS surgery. The study’s primary outcome was to analyze whether there was a reduction in BoNT dosage after DBS surgery. The mean BoNT dosages difference between baseline and post-surgery was 293.4 units for 6 months, 292.6 units for 12 months, and 295.2 units at the last visit. The median total dose of BoNT in the preoperative period was 800 units (N = 23). At the last visit, the median was 700 units (p = 0.05). This represents a 12.5% reduction in BoNT median dosage. In conclusion, despite the limitations of this retrospective study, there was a significant reduction in BoNT doses after DBS surgery in patients with generalized dystonia.

Dear Editor, We appreciate the insightful remarks from our colleagues on our use of the term “functional capacity” in our manuscript in Arquivos de Neuro-Psiquiatria.[1] [2] We concur that employing transparent terminology to discuss a frequently neglected aspect of Parkinson's disease (PD) management – the assessment of upper limb functional capacity – is important in the clinical discourse on movement disorders. Functional capacity generally refers to the ability to carry out necessary or desirable tasks under specific conditions.[3] We employ the term “upper limb functional capacity in PD” specifically to denote the ability to execute normative functional activities in daily life, including work-related tasks. Our definition is grounded in both the World Health Organization's (WHO) International Classification of Function, Disability, and Health (ICF)[4] and the European Physiotherapy Guideline for Parkinson's Disease.[5] [6] The assessment of upper limb functional capacity in PD should encompass activity levels and level of participation and take into account limitations and disability levels caused by both motor and non-motor symptoms and medication states (on and off). Despite optimal treatment, the symptoms of PD inevitably progress, leading to disability in daily activities.[7] As such, one of the highest priorities in managing PD is delaying and preventing such disability.[4] To maintain upper limb function, it is vital to understand the relationship between various PD symptoms and the resulting disability. This understanding is crucial to minimize functional limitations.[7] In clinical practice, we commonly obtain objective, quantitative data on upper limb functional capacity via physical performance measures (including body functions and structures) or through simulations of daily activities. These strategies allow us to gauge the interaction of activity and participation with personal and environmental factors.[4] [5] [8] In this discussion, we further explore the clinical implications of upper limb functional capacity. As previously discussed, this area demands greater attention in future research. PD is complex and multi-faceted, influencing all aspects of affected individuals' lives. It is crucial to understand the relationship between PD's varied symptoms and rising disability to limit the impact on functional capacity.[7] Our manuscript underscores the significance of comprehending and applying upper limb functional capacity assessments when caring for individuals with PD. As we understand it, healthcare professionals specializing in movement disorders should conduct this assessment. It involves an assortment of tests and scales, practices, and observations to gauge the subject's functionality in varied circumstances. This includes necessary physical, cognitive, and emotional functions for daily activities (ADLs), work, social interactions, and leisure pursuits. Limited clinical evidence suggests that decreased upper limb functional capacity hampers daily activities in PD.[8] The effects of PD-related motor symptoms like tremors, bradykinesia, rigidity, and freezing in upper limbs on tasks involving hand dexterity – such as typing on the computer or mobile phone, writing, or dressing – are documented only by few studies.[8] The extent of these functional limitations could be tied to: As specialists in movement disorders, we aim to explore how the lack of specific measures to assess upper limb functional capacity in PD impacts the clinical prognosis. This is especially important for optimizing pharmacological, surgical, and non-pharmacological rehabilitation treatment strategies and for improving the quality of life in individuals living with PD. To clarify, the measures taken to mitigate language bias in our study design are documented in our manuscript, including our use of the PubMed database for search purposes. These limitations are addressed in the inclusion criteria and methodology sections.[9] In line with the PRISMA checklist,[10] we performed a search on the rigorous Physiotherapy Evidence Database (PEDro, www.pedro.org.au) to minimize selection bias. This step was detailed in the methodology, although its presentation could have been clearer. Our PEDro search resulted in an additional 12 source articles shown in the flow diagram.[1] In-depth information about these sources is documented[1] such as an overview, characteristics, and specific outcomes of the studies, including the number of participants of each study (in total, n = 2239). All authors contributed to the article and approved the submitted version. Received: 30 April 2024 Accepted: 03 May 2024 Article published online: 18 June 2024 © 2024. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution 4.0 International License, permitting copying and reproduction so long as the original work is given appropriate credit (https://creativecommons.org/licenses/by/4.0/) Thieme Revinter Publicações Ltda. Rua do Matoso 170, Rio de Janeiro, RJ, CEP 20270-135, Brazil

Background Wilson disease (WD) is an autosomal recessive disorder that leads to organ toxicity due to copper overload. Early diagnosis is complicated by the rarity and diversity of manifestations. Objective To describe the diagnostic features and response to treatment in our cohort of WD patients. Methods This was a retrospective analysis of 262 WD patients stratified by clinical presentation, complementary exams, ATP7B genotyping, and response to treatment. Results Symptoms occurred at an average age of 17.4 (7–49) years, and patients were followed up for an average of 9.6 (0–45) years. Patients presented mainly with hepatic (36.3%), neurologic (34.7%), and neuropsychiatric (8.3%) forms. Other presentations were hematologic, renal, or musculoskeletal, and 16.8% of the patients were asymptomatic. Kayser-Fleischer rings occurred in 78.3% of the patients, hypoceruloplasminemia in 98.3%, and elevated cupruria/24h in 73.0%, with an increase after D-penicillamine in 54.0%. Mutations of the ATP7B gene were detected in 84.4% of alleles. Brain magnetic resonance imaging showed abnormalities in the basal ganglia in 77.7% of patients. D-penicillamine was the first choice in 93.6% of the 245 patients, and 21.1% of these patients were switched due to adverse effects. The second-line therapies were zinc and trientine. The therapeutic response did not differ significantly between the drugs (p = 0.2). Nine patients underwent liver transplantation and 82 died. Conclusion Wilson disease is diagnosed at a late stage, and therapeutic options are limited. In people under 40 years of age with compatible manifestations, WD could be considered earlier in the differential diagnosis. There is a need to include ATP7B genotyping and therapeutic alternatives in clinical practice.