Our findings suggest that most patients with biopsy-proven sporadic IBM present with a typical pattern of muscle involvement at MRI, more extensively in the lower extremities. Moreover, MRI findings strongly correlated with clinical and functional parameters, because both the extent and severity of muscle involvement assessed by MRI and clinical and functional parameters are associated with the early onset of the disease and its duration.

Objective ANO5‐related myopathy is an important cause of limb‐girdle muscular dystrophy (LGMD) and hyperCKemia. The main descriptions have emerged from European cohorts, and the burden of the disease worldwide is unclear. We provide a detailed characterization of a large Brazilian cohort of ANO5 patients. Methods A national cross‐sectional study was conducted to describe clinical, histopathological, radiological, and molecular features of patients carrying recessive variants in ANO5. Correlation of clinical and genetic characteristics with different phenotypes was studied. Results Thirty‐seven patients from 34 nonrelated families with recessive mutations of ANO5 were identified. The most common phenotype was LGMD, observed in 25 (67.5%) patients, followed by pseudometabolic presentation in 7 (18.9%) patients, isolated asymptomatic hyperCKemia in 4 (10.8%) patients, and distal myopathy in a single patient. Nine patients presented axial involvement, including one patient with isolated axial weakness. The most affected muscles according to MRI were the semimembranosus and gastrocnemius, but paraspinal and abdominal muscles, when studied, were involved in most patients. Fourteen variants in ANO5 were identified, and the c.191dupA was present in 19 (56%) families. Sex, years of disease, and the presence of loss‐of‐function variants were not associated with specific phenotypes. Interpretation We present the largest series of anoctaminopathy outside Europe. The most common European founder mutation c.191dupA was very frequent in our population. Gender, disease duration, and genotype did not determine the phenotype.

Genetic factors have been suggested to be involved in the pathogenesis of sporadic inclusion body myositis (sIBM). Sequestosome 1 (SQSTM1) and valosin-containing protein (VCP) are 2 key genes associated with several neurodegenerative disorders but have yet to be thoroughly investigated in sIBM. A candidate gene analysis was conducted using whole-exome sequencing data from 181 sIBM patients, and whole-transcriptome expression analysis was performed in patients with genetic variants of interest. We identified 6 rare missense variants in the SQSTM1 and VCP in 7 sIBM patients (4.0%). Two variants, the SQSTM1 p.G194R and the VCP p.R159C, were significantly overrepresented in this sIBM cohort compared with controls. Five of these variants had been previously reported in patients with degenerative diseases. The messenger RNA levels of major histocompatibility complex genes were upregulated, this elevation being more pronounced in SQSTM1 patient group. We report for the first time potentially pathogenic SQSTM1 variants and expand the spectrum of VCP variants in sIBM. These data suggest that defects in neurodegenerative pathways may confer genetic susceptibility to sIBM and reinforce the mechanistic overlap in these neurodegenerative disorders.

Sporadic inclusion body myositis (sIBM) is considered the most common acquired myopathy aged over 50 years. The disease is characterized by a particular process of muscle degeneration characterized by abnormal deposit of protein aggregates in association with inflammation. The aim of this study was to present clinical and muscle histopathological findings, including immunostaining for LC3B, p62, α-synuclein, and TDP-43, in 18 patients with sIBM. The disease predominated in males (61%) and European descendants, with onset of clinical manifestations around 59 years old. The most common symptoms were muscle weakness, falls, dysphagia, and weight loss. Hypertension was the main comorbidity. Most of the cases presented with paresis predominantly proximal in lower limbs and distal in upper limbs. Immunosuppressive treatment showed to be not effective. Muscle histological findings included dystrophic changes, endomysial inflammation, increased lysosomal activity, and presence of rimmed vacuoles and of beta-amyloid accumulation, in addition to high frequency of mitochondrial changes. There was increased expression of LC3B, p62, α-synuclein, and TDP-43 in muscle biopsies. The sIBM has characteristic clinical and histological findings, and the use of degeneration and autophagic markers can be useful for the diagnosis.

Introduction: Severe Acute Respiratory Syndrome-Coronavirus 2 (SARS-CoV-2) was first detected in December 2019 in the city of Wuhan, China, and has since taken on worldwide proportions. It is known that individuals with Coronavirus disease-19 (COVID-19) have systemic clinical manifestations. Among the multisystemic effects, cerebral venous thrombosis (CVT) is responsible for high mortality rates. In this sense, understanding the association between CVT and SARS-CoV-2 infection directly impacts the disease's morbidity and mortality. Methodology: Literature review in the PubMed and Embase databases, with the following search terms: “COVID-19”, “SARS-CoV-2”, “Venous thromboembolism”, “Thrombosis”, “Cerebral Venous Thrombosis”, “Intracranial Sinus Thrombosis” and “Cranial Sinus Thrombosis”. The selected articles were written in English, which addressed the various aspects of COVID-19. Results and discussion: CVT are a rare complication of COVID-19, with an incidence between 0.02 to 1% of hospitalized patients. However, it can reach about 75% of mortality in affected individuals. Pathophysiology seems to be associated with the state of hypercoagulability and the systemic inflammatory process resulting from viral infection. Thus, recent studies show a consensus on the early anticoagulation of patients affected by the virus, to reduce mortality in these cases. However, the differences between the types of anticoagulation, Low Molecular Weight Heparin (LMWH), Unfractionated Heparin (UFH), Dabigatran have not yet been well established, although there is a predilection for the use of LMWH. Also, thrombectomy is a therapeutic intervention option that should be evaluated, due to the risk of additional endothelial injury from the use of stent retrievers. Conclusion: Although it has a relatively low incidence, CVT aggravates the condition and increases the risk of death for patients with COVID-19. Because of this, early diagnosis and evaluation of therapeutic options for CVT are essential for the development of clinical management.