Sclerosis

Multiple sclerosis (MS) is a chronic immune-mediated demyelinating disorder of the central nervous system, traditionally considered distinct from neuromuscular diseases, which primarily affect the peripheral nervous system, neuromuscular junction, or skeletal muscle. Growing clinical and experimental evidence, however, indicates that certain neuromuscular disorders may coexist with MS or shared overlapping pathophysiological, immunological, and metabolic mechanisms. This narrative review summarizes reported associations between MS and neuromuscular diseases, with particular focus on well-characterized overlaps such as Leber hereditary optic neuropathy (LHON)-associated MS (Harding’s disease), combined central and peripheral demyelination (CCPD), and myasthenia gravis (MG) co-occurring with MS. Additional associations with Charcot–Marie–Tooth disease, mitochondrial disorders with MS-like phenotypes, inherited and autoimmune myopathies, and rare syndromes such as Guillain–Barré syndrome are also discussed. This review highlights proposed mechanisms potentially linking these conditions, including immune dysregulation, T- and B-cell-mediated autoimmunity, antibody-driven demyelination, mitochondrial dysfunction, impaired neuromuscular transmission, and molecular mimicry. Limitations of the current literature are acknowledged, particularly the predominance of case reports for rare associations and the frequent lack of systematic screening for coexisting disorders. By integrating evidence from case series, cohort studies, and mechanistic research, this review provides a comprehensive overview of the biological and clinical intersections between MS and neuromuscular diseases. Enhanced understanding of these overlaps may improve diagnostic accuracy, guide individualized management strategies, and inform future research on shared neuroimmunological and neurodegenerative pathways. Full article

Background/Objectives: Multiple sclerosis (MS) significantly impairs quality of life (QoL) beyond physical disability, affecting psychosocial well-being. Although nurses play a central role in holistic, person-centered care, region-specific evidence from Western Greece remains limited. This study aimed to evaluate QoL and its biopsychosocial determinants among adults with MS in Western Greece and synthesize evidence on modifiable factors to guide nursing interventions. Methods: A cross-sectional study was conducted among 128 adults with MS (82% response rate from a pool of 156). QoL was measured with the MSQOL-54, depression with the Beck Depression Inventory-II, and social support with the Multidimensional Scale of Perceived Social Support. Data were analyzed using descriptive statistics, correlations, and multiple regression. Results: Participants reported moderate QoL impairment (Physical Composite Score = 53.6; Mental Composite Score = 57.4). Unemployment (52% of sample) was significantly associated with poorer physical QoL (p < 0.001). Fatigue, pain, and depressive symptoms showed strong negative correlations with QoL (p < 0.001). Higher perceived social support was a significant predictor of better mental health (β = 0.42, p < 0.01). The systematic review confirmed these predictors and reinforced social support as a key protective factor. Conclusions: Nurses should prioritize psychosocial aspects of MS care. Routine assessment and strengthening of social support networks, along with addressing employment barriers, are essential. Integrating targeted psychosocial strategies into standard nursing practice can effectively improve holistic well-being and mitigate QoL deterioration in individuals with MS. Full article

Background: Neuromyelitis optica spectrum disorder (NMOSD) is an autoimmune demyelinating disease with important disability accumulation. Early-onset NMOSD, defined as disease onset before age 50, exhibits distinct clinical characteristics compared to late-onset disease. We present a case series of patients with first symptom onset before age 30. Methods: A retrospective review of 10 patients diagnosed with NMOSD at our center in San Luis Potosí, Mexico, with disease onset before age 30. Clinical presentation, imaging findings, AQP4 antibody status, treatment response, and disability outcomes were analyzed. Results: The mean age at onset was 18.6 years (range 6–30). Area postrema syndrome was the most common presentation (40%), followed by acute myelitis and optic neuritis (30% each). All tested patients were AQP4-positive. The mean EDSS at follow-up was 6.6, indicating severe disability. Most patients received rituximab with variable response rates. Conclusions: Our cohort showed higher disability than reported in other early-onset series, emphasizing the need for prompt diagnosis and aggressive treatment in this population. Full article

Background/Objectives: Gait impairment is a common finding in multiple sclerosis (MS). Clinicians have used both treadmill and overground walking for its evaluation and treatment. However, there is little evidence that these two types of walking are equivalent. Methods: An incidental finding from another study revealed differences between treadmill and overground walking speed in 24 persons with MS. We compared this to walking speed in healthy controls walking in the same two conditions. Results: Walking speed was significantly reduced on the treadmill relative to overground walking in persons with MS, while there was no difference between the two conditions for controls. Conclusions: Clinicians should consider that treadmill walking may not generalize to overground walking in this population. Full article

Background: Amyotrophic lateral sclerosis (ALS) progressively impairs motor function, compromising speech and limiting communication. Augmentative and alternative communication (AAC) is essential to maintain autonomy, social participation, and quality of life for people with ALS (PALS). This review maps technological developments in AAC, from low-tech tools to advanced brain–computer interface (BCI) systems. Methods: We conducted a scoping review following the PRISMA extension for scoping reviews. PubMed, Web of Science, SciELO, MEDLINE, and CINAHL were screened for studies published up to 31 August 2025. Peer-reviewed RCT, cohort, cross-sectional, and conference papers were included. Single-case studies of invasive BCI technology for ALS were also considered. Methodological quality was evaluated using JBI Critical Appraisal Tools. Results: Thirty-seven studies met inclusion criteria. High-tech AAC—particularly eye-tracking systems and non-invasive BCIs—were most frequently studied. Eye tracking showed high usability but was limited by fatigue, calibration demands, and ocular impairments. EMG- and EOG-based systems demonstrated promising accuracy and resilience to environmental factors, though evidence remains limited. Invasive BCIs showed the highest performance in late-stage ALS and locked-in syndrome, but with small samples and uncertain long-term feasibility. No studies focused exclusively on low-tech AAC interventions. Conclusions: AAC technologies, especially BCIs, EMG and eye-tracking systems, show promise in supporting autonomy in PALS. Implementation gaps persist, including limited attention to caregiver burden, healthcare provider training, and the real-world use of low-tech and hybrid AAC. Further research is needed to ensure that communication solutions are timely, accessible, and effective, and that they are tailored to functional status, daily needs, social participation, and interaction with the environment. Full article

Multiple sclerosis (MS) is a heterogeneous autoimmune disease driven by peripheral immune dysregulation and compartmentalized central nervous system (CNS) inflammation. Despite more than 20 approved disease-modifying therapies, disability accrual remains common, particularly in patients with highly active relapsing disease and progressive phenotypes characterized by silent progression and smoldering neuroinflammation. Two emerging therapeutic strategies address these unmet needs: Bruton’s tyrosine kinase (BTK) inhibitors and autologous haematopoietic stem cell transplantation (HSCT). Although mechanistically distinct, both aim to overcome limitations of conventional immunosuppression by intervening more deeply in the autoimmune cascade. This narrative review synthesized mechanistic, clinical, and translational evidence identified through a comprehensive search of PubMed, Scopus, Web of Science, and ClinicalTrials.gov from January 2010 to August 2025. BTK inhibitors are oral, CNS-penetrant therapies that selectively modulate B-cell signaling and CNS-resident myeloid cells without broad lymphocyte depletion, enabling continuous immunomodulation. Phase II–III trials of evobrutinib, tolebrutinib, and fenebrutinib show consistent MRI activity suppression but variable effects on relapses and disability, suggesting relevance in microglial-driven, relapse-independent disease. HSCT is a one-time immune reconstitution therapy that eradicates autoreactive immune clones and restores immune tolerance. Randomized and real-world studies demonstrate profound suppression of inflammatory activity, stabilization or improvement of disability, and durable treatment-free remission in selected patients with highly active relapsing–remitting MS, although procedure-related risks require strict eligibility criteria and experienced centers. Together with BTK inhibitors, HSCT represents a complementary strategy within an increasingly personalized MS treatment paradigm, emphasizing biomarker-guided patient selection and optimized therapeutic sequencing. Full article

Background: Although multiple sclerosis (MS)-associated tremor and ataxia are well described in the neurological literature, other extrapyramidal movement disorders (MDs), including Holmes tremor, dystonia, chorea, myoclonus, parkinsonism, and restless legs syndrome, have received far less attention and are generally regarded as rare manifestations of MS. Rationale: Although MS is traditionally considered a white matter disease, increasing evidence has demonstrated clinically relevant grey matter involvement, particularly within the basal ganglia, thalamus, and cerebellar–brainstem pathways. Understanding extrapyramidal MDs in MS may therefore provide important insights into the functional networks disrupted by demyelination and inflammation. Aim: This review aims to highlight the available literature on extrapyramidal MDs in MS, outlining their clinical presentations, lesion correlates, and proposed mechanisms. We examined reported cases, reviews, and findings in the literature explaining these disorders and their occurrence in association with acute relapses, as well as their development during the progressive phase of MS. Conclusions: By integrating clinical and pathophysiological evidence, this review highlights how rare extrapyramidal MDs may reflect underlying grey matter pathology and network-level disruption, with potential implications for diagnosis, monitoring, and treatment. Full article

Background/Objectives: People with MS continue to experience relapses despite the use of disease-modifying therapies. This has motivated growing interest in the potential of non-pharmacological factors to reduce relapse risk. However, previous studies have been heterogeneous, and current clinical guidelines lack clarity on which measures should be incorporated into routine care. We aim to conduct an umbrella review of systematic reviews with meta-analyses to determine the current evidence on non-pharmacological exposures associated with relapse risk in MS. Methods: We searched PubMed, Embase and Cochrane to identify systematic reviews with meta-analyses that evaluated the association between non-pharmacological exposures and relapse risk. We included observational studies that reported on relapses as an outcome. The effect sizes (relative risk [RR] or standardized mean difference [SMD]) and certainty of evidence were assessed using components of the GRADE framework. Results: We screened 3366 articles and identified 11 systematic reviews for inclusion. Protective factors were breastfeeding (RR 0.63, high certainty), pregnancy (SMD −0.52, moderate certainty), menopause (SMD −0.5, low certainty), autumn months (RR 0.97, moderate certainty) and increasing levels of vitamin D (RR 0.9, low certainty). Risk factors were early postpartum period (RR 1.87, moderate certainty) and stress (d = 0.53, moderate certainty). Influenza vaccination (low certainty), COVID-19 infection (low certainty), and vitamin D levels above 50 nmol/L (low certainty) were not statistically associated with relapse risk. Conclusions: Our umbrella review highlights the need for more robust studies to strengthen the certainty of evidence on non-pharmacological exposures and relapse risk in people with MS. Current findings support promoting breastfeeding, careful disease management throughout the pregnancy–postpartum period, and the implementation of stress mitigation strategies. Full article

Localized scleroderma (LSc), or morphea, is an autoimmune connective tissue disease causing inflammation and fibrosis of the skin and underlying tissues. While distinct from systemic sclerosis, its clinical presentation is highly diverse. This review summarizes recent advances in the understanding and management of LSc. Pathophysiological insights have evolved significantly; the somatic mosaicism hypothesis is now supported by the observation of all six of Happle’s classic lesion patterns in LSc. Furthermore, recent single-cell RNA sequencing has elucidated key cellular mechanisms, revealing an IFN-γ-driven pro-fibrotic crosstalk between T cells, dendritic cells, and specific inflammatory fibroblast subpopulations. The discovery of a rare monogenic form of LSc caused by a STAT4 gain-of-function mutation provides a powerful human model, solidifying the critical role of the JAK-STAT pathway. Clinically, LSc is classified into subtypes such as circumscribed, linear, and generalized morphea. Extracutaneous manifestations are common, particularly in juvenile LSc, and are associated with higher disease activity and reduced quality of life, necessitating a multidisciplinary approach. Management is becoming standardized, with methotrexate as the first-line systemic therapy for severe disease. For refractory cases, targeted treatments including abatacept, tocilizumab, and JAK inhibitors are emerging as promising options. In addition, reconstructive therapies like autologous fat grafting are crucial for managing atrophic sequelae. These recent advances are paving the way for more effective, targeted therapies to improve outcomes for patients with this complex disease. Full article

Background/Objectives: Cognitive impairment is frequent in multiple sclerosis, yet routine screening is inconsistently implemented. We aimed to characterize cognitive impairment using CogEval in a Mexican cohort and to identify clinical and functional correlates. Methods: We conducted a cross-sectional study at UMAE No. 71 (Torreón, Mexico). Adults with MS (n = 81) underwent CogEval screening (classified as normal, mild, or severe). Disability, upper-limb dexterity (9-Hole Peg Test, mean of both hands), and gait speed (Timed 25-Foot Walk) were assessed. Bivariate tests and multivariable logistic regression examined associations with cognitive impairment. Results: Participants were 61.7% women; mean age was 35.7 ± 9.9 years. Median EDSS was 2.0 (IQR 1.0–4.0); 28.4% had EDSS ≥ 4. CogEval identified impairment in 49.4% (40/81), with 62.5% severe and 37.5% mild. In bivariate analyses, impairment was associated with higher EDSS (p < 0.001), slower 9-HPT (p < 0.001), and slower T25FW (p = 0.0058), but not with age, sex, or disease duration. In adjusted models, EDSS (OR 1.86, 95% CI 1.14–3.03; p = 0.012) and 9-HPT per second (OR 1.31, 95% CI 1.09–1.58; p = 0.005) independently predicted impairment, whereas T25FW and age were not significant. Discrimination was good (AUC = 0.863). Conclusions: About half of this Mexican MS cohort screened positive for cognitive impairment, particularly those with greater disability and reduced manual dexterity. CogEval appears feasible for routine screening and may help prioritize comprehensive neuropsychological assessment and rehabilitation. Full article

Background: Multiple sclerosis (MS), a debilitating chronic disease of the central nervous system, is characterized by both inflammatory and neurodegenerative processes that lead to demyelination and neuronal damage. While MS remains incurable, therapies like fingolimod can slow disease progression by modulating immune function. Fingolimod acts as a sphingosine-1-phosphate receptor modulator, limiting lymphocyte migration into the central nervous system and thereby reducing inflammation. Methods: In this study, we developed a computational model to describe fingolimod’s impact on immune dynamics in MS, focusing on CD8⁺ T-cell migration blockade. Model calibration utilized cohort data, enabling the comparison of simulated outcomes with observed clinical metrics. Results: The results indicate that our model effectively captures the timing and extent of CD8⁺ T-cell sequestration, consistent with key features in the patient data. Conclusions: These findings suggest that computational modeling can provide quantitative insight into the fingolimod’s mechanism of action and assist in predicting treatment response, offering a promising framework for exploring personalized fingolimod dosing strategies and enhancing therapeutic planning in MS. Full article

Background: Very few case reports have explored a potential link between ankylosing spondylitis (AS), an autoimmune disorder, and amyotrophic lateral sclerosis (ALS), a progressive neurodegenerative condition. We aimed to investigate whether genetic liability to AS causally influences the risk of ALS, and vice versa, using a bidirectional two-sample Mendelian randomization (MR) framework. Methods: We performed a two-sample MR study to evaluate the bidirectional causal relationship between genetic liability to ankylosing spondylitis and ALS risk. We used 6 valid single nucleotide polymorphisms (SNPs) from genome-wide association study (GWAS) data (AS: 1462 cases and 164,682 controls; ALS: 27,205 cases and 110,881 controls). We used the inverse-variance weighted (IVW) approach as the primary statistical method for causal estimation, with sensitivity analyses (including MR-Egger, weighted median, weighted mode, Mendelian Randomization Pleiotropy Residual Sum and Outlier (MR-PRESSO), leave-one-out, and single SNP analysis) to assess pleiotropy and heterogeneity. Results: There was no evidence of a causal association between genetic predispositions to ankylosing spondylitis (AS) and amyotrophic lateral sclerosis (ALS) (IVW OR = 1.01; 95% CI: 0.99–1.02; p = 0.10). The results from the weighted median, weighted mode, MR-Egger, and simple mode methods were consistent and nonsignificant. In the reverse analysis, genetic liability to ALS showed no causal effect on AS (IVW OR = 0.88; 95% CI: 0.70–1.12; p = 0.33), with similar null findings across all sensitivity methods. Conclusions: Overall, our bidirectional two-sample MR analyses provided no evidence supporting a causal relationship between AS and ALS. Full article

Background: Multiple sclerosis (MS) leads to early retirement in one-third of patients. The aim of this study is to analyze the difficulties at work and to collect suggestions for support measures at the workplace to maintain the ability to work for people with MS. Methods: Qualitative interviews were conducted with 20 people affected by MS. The participants’ experiences with workplace support were summarized and suggestions for workplace measures were presented. Results: Lack of offers of health-related measures and missing adjustments of the workplace has been analyzed. Offering flexible working hours and measures against fatigue is desired. Intensifying the cooperation between labor market service, health care providers and companies can help reintegrate affected people. Conclusions: Workplace education about MS and health-related measures is needed. Technical adaptations and flexible working hours can support in maintaining workability. Measures against fatigue must be developed and companies must set further measures to support people with illnesses. Full article

Background: There is varied practice with Disease-Modifying Treatment (DMT) for Multiple Sclerosis worldwide. We evaluated early DMT initiation within a real-world population for long-term outcomes. Method: The Scottish Multiple Sclerosis Register (SMSR) identified participants diagnosed with Relapsing Remitting Multiple Sclerosis (RRMS) in 2010/2011. We compared two groups of propensity-matched participants at diagnosis, who went on to receive either early treatment (<12 months from diagnosis) or late/never treated. Participants underwent detailed clinicoradiological evaluation and patient-reported outcome measures 11–13 years post-diagnosis. The primary outcome was mean Expanded Disability Status Scale (EDSS). Results: The SMSR identified 298 participants. A total of 141 had complete retrospective clinical data and 81 agreed to participate, with 32 successfully matched (16 pairs). Median time on DMT was 10.8 years (range 0.4–12.5) for those treated early and 4.0 (0–11.5) years for the late/never-treated group. A total of 7/16 (44%) never received a DMT of those not treated early. All early-treated participants commenced first-line DMT (5/16 subsequently escalated to second-line DMTs). Of those treated later (9/16), 7/9 participants (78%) commenced first-line and 2/9 s-line DMT. There were no serious adverse events identified with any DMT. There was no significant difference in the primary outcome, with mean EDSS 3.93 in the late/never-treated group vs. 4.53 in the early-treated group at 11–13 years post-diagnosis (p = 0.57). There was no significant difference in median change in EDSS from the time of diagnosis to prospective assessment between early and late/never-treated groups. Patient Reported Outcome Measurement Information System (PROMIS) scores for cognition favoured no early treatment (p = 0.02), whilst satisfaction with treatment choice favoured early treatment (p = 0.03). Conclusions: Our cohort did not show clear benefit with early DMT in RRMS, contrasting with other larger studies, with no significant differences between early and late/never-treated patients on clinicoradiological outcomes. Possible explanations include confounding by variables not included in matching and group allocation based on diagnosis date rather than first clinical symptom. Most participants were treated with injectable DMTs, not in keeping with current practice. A prospective, long-term follow-up deep phenotyping study would help characterise benefits of early DMT use, but this is clearly challenging in practice. Full article

Objectives: The purpose of this study was to analyze the effect of daily intake of cladribine tablets on the course of multiple sclerosis (MS) while monitoring for 1–4 years during and after the course in several neurological clinics from different regions of the Russian Federation. Materials and Methods: Information was collected on 235 patients from 12 neurological clinics and regional centers for MS, who were observed for an average of 3.4 years after starting treatment with cladribine. Results: An independent analysis of cases of prescription of cladribine in tablets showed that the reason for prescription of cladribine was highly active MS (HAMS) in 159 patients (67.7%), rapidly progressive MS (RPMS) in 20 patients (8.5%), active remitting MS in 50 patients (21.3%) and secondary progressive MS (SPMS) with exacerbations in 6 (2.5%). Among them, only 12 patients (5.1%) had not previously received DMTs, i.e., in these cases, the drug was prescribed as the first DMT. In total, 22 patients had previously received natalizumab, 5—ocrelizumab, and in 1 case—fingolimod. The remaining 207 patients were crossed over from the first-line DMTs. In all cases, there was a decrease in the frequency of exacerbations during and after the completion of the course of cladribine. Exacerbations between the first and second courses of cladribine were noted in 36 patients (15.3% of all treated), almost half of the cases—those who previously received natalizumab (17 exacerbations, or 47.2% of all exacerbations between the 1st and 2nd courses of cladribine), and in 3 cases—from ocrelizumab (in 60% of all patients crossed over from ocrelizumab). During 4 years of follow-up after a full course of cladribine, exacerbations were in 14 patients (6% of all patients included in the analysis), of which in 6 cases—after crossover from natalizumab. Discussion and Conclusions: The data obtained are generally consistent with the results of meta-analyses and reviews published recently, but high probability of exacerbations in patients who were crossed over from second-line drugs such as natalizumab and ocrelizumab were seen. The crossover from natalizumab is carried out more often due to the increased risk of developing progressive multifocal encephalopathy (PML). It is likely that the restoration of MS activity after the withdrawal of natalizumab is quite frequent, cladribine tablets were not able to fully prevent this. Such a crossover does not seem to be optimal, unlike the crossover from first-line DMTs. If such a crossover is still planned, it could be performed within 4 weeks after stopping natalizumab. Full article

Chalcones, a class of flavonoid compounds, are recognized for their unique biological properties, and especially for their antithrombotic, anti-inflammatory, and antioxidant health-promoting properties against inflammation-related disorders. Chalcones are phytochemicals naturally found in plants, fruits, and vegetables, such as tomatoes, apples, and licorice. Their characteristic chemical structure, which includes two aromatic rings and an α,β-unsaturated carbonyl group, makes them particularly versatile for pharmaceutical use. At the same time, chalcones exhibit strong antioxidant activity by neutralizing free radicals and enhancing endogenous antioxidant defense systems, such as glutathione. Structural modifications have improved their biological activity, leading to important applications in the treatment of atherosclerosis and cardiovascular diseases, cancer, neurodegenerative diseases, and inflammatory disorders. In addition, they have been successfully used in agriculture as natural pesticides and in the food industry as antioxidant additives. This review demonstrates the interdisciplinary importance of chalcones, highlighting the need for further research into their molecular mechanisms of action. A deeper understanding of their properties may open new avenues for the development of innovative drugs and environmentally friendly applications. In this way, chalcones can be a decisive factor in improving human health and environmental sustainability. Full article

Background: Multiple sclerosis is a multifactorial neurodegenerative disease characterized by autoimmune and inflammatory processes. Despite advancements in disease-modifying therapies, multiple sclerosis remains challenging due to its complex pathophysiology and variable clinical presentation. Current therapies focus on managing inflammation and promoting immunosuppression but do not achieve complete symptom regression or enhance remyelination. Emerging therapies, such as Peroxisome Proliferator-Activated Receptor gamma (PPARγ) agonists and Bruton tyrosine kinase (BTK) inhibitors, show promise in modulating inflammation and targeting immune cells. Innovative approaches like human fetal neural precursor cells (hfPNCs) and mesenchymal stem cell transplantation are being explored to reduce neural inflammation and improve neuroprotection. Early diagnosis and intervention are crucial for managing multiple sclerosis effectively and preventing progression to severe forms and permanent disability. Therapeutic education for individuals with multiple sclerosis and their caregivers is essential, emphasizing the need for clear, reliable information to support disease management and improve quality of life. Objectives: This review provides an up-to-date overview of multiple sclerosis pathophysiology, current treatments, and emerging therapies, aiming to enhance the knowledge base of healthcare professionals and researchers, facilitating informed decision-making and contributing to ongoing research efforts. Full article

Objectives: Cardiac involvement in scleroderma due to myocardial inflammation and fibrosis is associated with poor outcomes, but there is lack of consensus on its investigation and treatment. In this prospective pilot study, we aimed to assess the cardiac uptake of 18F-FDG-PET/CT in suspected scleroderma cardiomyopathy. Methods: The Scleroderma Heart study involved 16 patients with cardiac scleroderma but no coronary artery disease. 18F-FDG-PET/CTs were performed, and the patients with a positive scan were offered a second 18F-FDG-PET/CT scan after 6–9 months. The clinical characteristics and clinical outcomes (all-cause mortality) were compared between the patients with positive and negative 18F-FDG-PET/CT scans. Results: Of the 16 included patients, 8 (50%) had positive myocardial uptake on the 18F-FDG-PET/CT, 2 of whom showed a pattern consistent with cardiac involvement in scleroderma, while 6 patients more likely had physiological uptake. Over a mean follow-up of 603.3 days, all-cause mortality occurred in six patients (37.5%), and the mortality was similar between the two groups. Five patients with repeat 18F-FDG-PET/CTs showed stable or increased FDG uptake despite immunosuppression. Conclusions: To the best of our knowledge, this is the first study to investigate 18F-FDG-PET/CT in scleroderma patients with suspected cardiac involvement. The cardiac PET showed limited clinical utility due to frequent physiological uptake and lack of correlation with the treatment response. Further studies with larger cohorts and standardised interpretation criteria are needed before cardiac PET can be recommended for routine clinical use in scleroderma cardiomyopathy. Full article

Amyotrophic Lateral Sclerosis (ALS) and Multiple Sclerosis (MS) are multifactorial and progressive neurodegenerative diseases (ND), which cause a functional capacity decline. Both diseases etiology remains unclear. They may have a hereditary genetic architecture, but they can also be due to a combination of genetic and environmental factors. Heat shock proteins (HSPs) play a crucial role in protein quality control, avoiding protein dysfunction and, consequently, cell apoptosis, which are well-known pathogenic mechanisms of ND. There are studies about chaperones physiology. However, research on their pathophysiology is scarce. Especially when it comes to their associated dysfunctions with Single nucleotide variants (SNV) on HSPs in ND. Thus, this review aimed to examine the role of genetic variants in genes encoding HSPs and their contribution to the pathophysiology of these sclerosis. We performed a qualitative and descriptive literature review, searching by the indexed terms “amyotrophic lateral sclerosis,” “genetic variants,” “heat shock proteins,” “Hsp40”, “Hsp70”, Hsp90”, “DNAJC7”, “multiple sclerosis,” “neurodegenerative diseases,” “protein quality control”, and “SNV” in the PubMed/NCBI, EMBASE and SciELo databases. Results described by a qualitative synthesis of the most significant studies. Despite the existence of studies with genetic variants in HSPs in patients with ND, we realize in this review the need for more specific research on this topic to demonstrate a significance as to the responsibility for deleterious effects in the modification in genes HSPs linked to sclerosis. Full article