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able of the three sequences for total brain structures and cortical structures. However, MP2RAGE was the most reliable for subcortical structures. The 32-channel coil showed better repeatability results than the 20-channel coil. 2020 Annals of Translational Medicine. All rights reserved.Background Hereditary diffuse leukoencephalopathy with spheroid (HDLS) is an autosomal dominant white matter disease characterized by adult-onset cognitive impairment, behavioral or emotional changes, paresis, Parkinsonism, and seizures. Mutations in the gene encoding colony-stimulating factor 1 receptor (CSF1R) have been identified as the cause of HDLS. Methods Detail medical history, clinical features and brain imaging of a patient with adult-onset leukoencephalopathy, cognitive impairment and motor dysfunction was reviewed and next generation sequencing was performed. An extensive literature research was then performed to identify all patients with HDLS previously reported. The clinical characteristics, brain imaging and genetic features of patients with HDLS were reviewed. Results A novel CSF1R mutation, c.1952G&gt;A p.G651E was identified in the patient. Extensive review showed that HDLS typically presents with broad phenotypic variability. The most common symptoms of HDLS were cognitive impairment, followed by psychiatric symptoms, Parkinsonism, gait disorder, and dysphagia. The most common brain imaging findings of HDLS were bilateral white matter lesion, mostly around the ventricles, frontal lobe, and parietal lobe. Calcifications in white matter on CT, cerebral atrophy and thinning of corpus callosum were also common features. Although HDLS demonstrates an autosomal dominant pattern, sporadic cases are not uncommon. Conclusions Early recognition of clinical and neuroradiographical characteristics of HDLS is key for the correct diagnosis of the disease. 2020 Annals of Translational Medicine. All rights reserved.Background Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary vascular disease caused by mutations in NOTCH3, that are primarily localized in exons 4, 3, and 11. The Arg332Cys mutation in exon 6 has been rarely reported in patients with CADASIL. Methods A case study and the results of a comprehensive systemic search of the PubMed database, using the keywords "CADASIL", "Arg332Cys", "R332C", and "exon 6", are reported. The results obtained, combined with the data obtained from the largest published case series on CADASIL, the clinical and imaging characteristics of patients with the Arg332Cys mutation, were compared and analyzed. Results A 48-year-old woman with a rare Arg332Cys mutation in exon 6 of NOTCH3, who presented with rapidly developing dementia and recurrent ischemic stroke, was investigated herein. Magnetic resonance imaging (MRI) revealed abnormal signals in the cerebral white matter, bilateral thalamus, internal and external capsulerebral microbleeding. Conclusions CADASIL patients with the Arg332Cys mutation in exon 6 have been reported in Europe and Asia. The majority of patients had early disease onset. Diffuse high signals involving the external capsule, brainstem, and bilateral temporal pole are the main neuroimaging characteristics. 2020 Annals of Translational Medicine. All rights reserved.Background Previous studies show that the high-mobility group box protein 1 (HMGB1) and the toll-like receptor 4 (TLR4) participate in systemic lupus erythematosus (SLE). The two molecules contribute to the occurrence and persistence of seizures in various disease conditions, such as epilepsy. Since seizures are one of the most severe complications associated with neuropsychiatric SLE (NPSLE), the current study aimed at investigating whether HMGB1 and TLR4 play any role in NPSLE related seizures. Methods Data from 291 SLE patients and 100 healthy controls (HC) were prospectively collected from 2013 to 2018. The ELISA test was used to determine serum levels of HMGB1 for all patients and HC and cerebrospinal fluid (CSF) levels of NPSLE patients. The expression levels of TLR4 by the peripheral blood monocytes (PBMCs) were determined by real-time PCR of TLR4 mRNA. Binary logistic regression and ROC curve analysis were used to predict NPSLE. Results Among the 291 SLE patients, 188 had active disease and were groupizures. The serum levels of HMGB1 were positively correlated with disease activity, and could, therefore, be a potential biomarker of NPSLE for use in future clinical practice. 2020 Annals of Translational Medicine. All rights reserved.Background Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is caused by pathogenic variants in the SACS gene and is characterized by ataxia, peripheral neuropathy, pyramidal impairment and episodic conditions such as epilepsy. Paroxysmal kinesigenic dyskinesia (PKD) had not been previously described in ARSACS. Methods We analyzed clinical manifestations and performed whole-exome sequencing (WES) in two independent patients with ARSACS and PKD. Both patients' parents were unaffected. Genetic data were filtered for potential pathogenic variants, searching for de novo mutations suggestive of a dominant disease model or homozygous and compound heterozygous variants of a recessive model. [https://www.selleckchem.com/ click here] Potential mutations that existed in both patients were generated and subjected to Sanger sequencing. The WES results of 163 PKD patients without additional symptoms from previous experiments were also reviewed. Results Novel compound heterozygous mutations in the SACS gene were identified in Patient 1 (p.P3007S and p.H3392fs), and a novel homozygous truncating mutation (p.W1376X) was identified in Patient 2. In both patients, each mutant allele was inherited from one of his or her unaffected parents. All 3 mutations were absent in 196 ethnic-matched control chromosomes or in data from the 1000 Genomes Project. No pathogenic variants associated with paroxysmal diseases, especially PKD and episodic ataxia, were identified. In PKD patients without additional symptoms, no homozygous or compound heterozygous variants in the SACS gene were detected. Conclusions This study expands the clinical phenotype of ARSACS and suggests the inclusion of SACS screening in patients with PKD plus ARSACS. 2020 Annals of Translational Medicine. All rights reserved.