Rhabdomyolysis is characterized by acute myofiber breakdown and a rapid rise in serum creatine kinase levels, typically triggered by external factors, with genetic susceptibility contributing in some cases. Obscurin, a giant protein encoded by the OBSCN gene, is essential for maintaining muscle fibers structural integrity and function. Recent studies have linked OBSCN variants to rhabdomyolysis, although the underlying mechanisms remain unclear. We report a young adult male with recurrent episodes of muscle pain and cramping, in whom genetic testing identified two heterozygous OBSCN variants (c.20292C>A and c.708del). This case provides clinical evidence supporting the pathogenic role of OBSCN mutations in rhabdomyolysis. Additionally, we review the molecular functions of OBSCN and highlight the need for further research to clarify the pathogenic mechanisms underlying OBSCN-related rhabdomyolysis.

Cerebral small vessel disease (CSVD) is a chronic global brain disease mainly involving small blood vessels in the brain. The disease can be gradually aggravated with the increase of age, so it is the primary cause of brain dysfunction in the elderly. With the increasing aging of the world population and the high incidence of cerebrovascular risk factors, the incidence of CSVD is increasing day by day. CSVD is characterized by insidious onset, slow progression, diverse clinical manifestations, and difficult early diagnosis. CSVD can lead to cognitive impairment, gait impairment, affective impairment, and so on. however, it has not received enough attention from researchers in the past. In recent years, some studies have shown that CSVD patients have a high proportion of related impairment, which seriously affect patients daily life and social functions. Currently, no clear preventive measures or treatments exist to improve the condition. With the development of magnetic resonance imaging, CSVD has become more and more recognized and the detection rate has gradually improved. This paper reviews the research progress of magnetic resonance imaging and cognitive impairment, gait impairment, affective impairment, urination disorder, swallowing disorder, and other disorders to provide a useful reference for the early diagnosis and treatment of CSVD and expand new ideas.

The pathogenesis of temporal lobe epilepsy (TLE) was originally considered to be acquired. However, some reports showed that TLE was clustered in some families, indicating a genetic etiology. With the popularity of genetic testing technology, eleven different types of familial TLE (FTLE), including ETL1-ETL11, have been reported, of which ETL9-ETL11 had not yet been included in the OMIM database. These types of FTLE were caused by different genes/Loci and had distinct characteristics. ETL1, ETL7 and ETL10 were characterized by auditory, visual and aphasia seizures, leading to the diagnosis of familial lateral TLE. ETL2, ETL3 and ETL6 showed prominent autonomic symptom and automatism with or without hippocampal abnormalities, indicating a mesial temporal origin. Febrile seizures were common in FTLEs such as ETL2, ETL5, ETL6 and ETL11. ETL4 was diagnosed as occipitotemporal lobe epilepsy with a high incidence of migraine and visual aura. Considering the diversity and complexity of the symptoms of TLE, neurologists enquiring about the family history of epilepsy should ask whether the relatives of the proband had experienced unnoticeable seizures and whether there is a family history of other neurological diseases carefully. Most FTLE patients had a good prognosis with or without anti-seizure medication treatment, with the exception of patients with heterozygous mutations of the CPA6 gene. The pathogenic mechanism was diverse among these genes and spans disturbances of neuron development, differentiation and synaptic signaling. In this article, we describe the research progress on eleven different types of FTLE. The precise molecular typing of FTLE would facilitate the diagnosis and treatment of FTLE and genetic counseling for this disorder.

OBJECTIVE: Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease affecting motor neurons. The proportion of late-onset ALS in China were low and may have distinct clinical and genetic manifestations. We aimed to investigate the natural history and remarkable psychiatric state of ALS with age at onset over 60years in China.; MATERIALS AND METHODS: We collected all ALS cases from 2017 to 2020 in our center and focused on late-onset ALS patients particularly, by analyzing the clinical data, including the ALS onset and disease progression. Anxiety, depression, cognitive function, and sleep quality were assessed to reflect the psychiatric state.; RESULTS: A total of 193late-onset ALS patients were included in this study. The median age at onset of late-onset ALS was 65years with the quartile from 62 to 68years. When compared with 446 non-late-onset ALS, late-onset ALS showed distinct clinical presentation, with lower ALS Functional Rating Scale-Revised at diagnosis and faster rate of progression. Remarkably, late-onset ALS were suffering from worse psychiatric state, including serious anxiety and depression, as well as worse cognitive function with sleep quality. The abnormal psychiatric state was more pronounced in female patients of late-onset.; CONCLUSIONS: In the current study, ALS patients with late-onset showed unique clinical features. Severe psychiatric conditions and faster progression in the early stage of the disease of late-onset ALS indicated the need for more social and psychiatric support in this population. © 2022 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Background: Congenital myopathy constitutes a heterogeneous group of orphan diseases that are mainly classified on the basis of muscle biopsy findings. This study aims to estimate the prevalence of congenital myopathy through a systematic review and meta-analysis of the literature. Methods: The PubMed, MEDLINE, Web of Science, and Cochrane Library databases were searched for original research articles published in English prior to July 30, 2021. The quality of the included studies was assessed by a checklist adapted from STrengthening the Reporting of OBservational studies in Epidemiology (STROBE). To derive the pooled epidemiological prevalence estimates, a meta-analysis was performed using the random effects model. Heterogeneity was assessed using the Cochrane Q statistic as well as the I-2 statistic. Results: A total of 11 studies were included in the systematic review and meta-analysis. Of the 11 studies included, 10 (90.9%) were considered medium-quality, one (9.1%) was considered low-quality, and no study was assessed as having a high overall quality. The pooled prevalence of congenital myopathy in the all-age population was 1.50 (95% CI, 0.93-2.06) per 100,000, while the prevalence in the child population was 2.73 (95% CI, 1.34-4.12) per 100,000. In the pediatric population, the prevalence among males was 2.92 (95% CI, -1.70 to 7.55) per 100,000, while the prevalence among females was 2.47 (95% CI, -1.67 to 6.61) per 100,000. The prevalence estimates of the all-age population per 100,000 were 0.20 (95% CI 0.10-0.35) for nemaline myopathy, 0.37 (95% CI 0.21-0.53) for core myopathy, 0.08 (95% CI -0.01 to 0.18) for centronuclear myopathy, 0.23 (95% CI 0.04-0.42) for congenital fiber-type disproportion myopathy, and 0.34 (95% CI, 0.24-0.44) for unspecified congenital myopathies. In addition, the prevalence estimates of the pediatric population per 100,000 were 0.22 (95% CI 0.03-0.40) for nemaline myopathy, 0.46 (95% CI 0.03-0.90) for core myopathy, 0.44 (95% CI 0.03-0.84) for centronuclear myopathy, 0.25 (95% CI -0.05 to 0.54) for congenital fiber-type disproportion myopathy, and 2.63 (95% CI 1.64-3.62) for unspecified congenital myopathies. Conclusions: Accurate estimates of the prevalence of congenital myopathy are fundamental to supporting public health decision-making. The high heterogeneity and the lack of high-quality studies highlight the need to conduct higher-quality studies on orphan diseases.

Aims: Although current guidelines recommend reduction of salt intake in patients with diabetes, the benefits of reducing salt intake in people with type 2 diabetes mellitus (T2DM) lack clear evidence. Therefore, we performed a meta-analysis of available randomized controlled trials (RCTs) of sodium restriction and blood pressure (BP) in patients with T2DM.Data synthesis: We performed a systematic search of the online databases that evaluated the effect of dietary sodium restriction on BP in patients with T2DM. Sodium intake was expressed by 24 h urinary sodium excretion (UNaV). Q statistics and I2 were used to explore between-study heterogeneity. A random-effects model was used in the presence of significant heterogeneity; otherwise, a fixed-effects model was applied. Eight RCTs with 10 trials (7 cross-over and 3 parallel designs) were included in the meta-analysis. Compared with ordinary sodium intake, dietary sodium restriction significantly decreased UNaV (weighted mean difference, WMD: -38.430 mmol/24 h; 95% CI: -41.665 mmol/24 h to -35.194 mmol/24 h). Sodium restriction significantly lowered systolic BP (WMD: -5.574 mm Hg; 95% CI: -8.314 to -2.834 mm Hg; I2 = 0.0%) and diastolic BP (WMD: -1.675 mm Hg; 95% CI: -3.199 to -0.150 mm Hg; I2 = 0.0%) with low heterogeneity among the studies. No publication bias was found from Begg's and Egger's tests.Conclusions: Sodium restriction significantly reduces SBP and DBP in patients with T2DM. (c) 2021 The Italian Diabetes Society, the Italian Society for the Study of Atherosclerosis, the Italian Society of Human Nutrition and the Department of Clinical Medicine and Surgery, Federico II University. Published by Elsevier B.V. All rights reserved.

The spectrum of anti-contactin-associated protein-like 2 (CASPR2) antibody-associated disease is expanding and the involvement of cerebellum was reported in the past few years. We report a 45-year-old male with chronically progressive cerebellar ataxia. CASPR2 antibodies were detected in his serum and cerebellar atrophy was observed on MRI. His symptoms improved prominently with steroids and intravenous immunoglobulins. 23 cases with CASPR2 antibodies and cerebellar ataxia were identified from previous publications. Most of patients showed acute or subacute onset with other typical presentations of anti-CASPR2 antibody-associated disease, such as limbic encephalitis. Immunotherapy was effective in the majority of patients.