Genetics plays a significant role in Multiple Sclerosis (MS), with approximately 12.6% of cases occurring in familial form. While previous studies have demonstrated differences in disease progression and MRI findings between familial and sporadic MS, there has been no comparison of cognitive impairment between them. In this study, we evaluated cognitive performance among patients with sporadic and familial MS, along with a healthy control group. A total of 130 individuals, matched for age, sex, and education, were recruited for each group. The mean age of participants was 37.8 ± 9.8 years, and 77.6% of them were female. Cognitive performance was assessed using the Brief International Cognitive Assessment for MS (BICAMS) across the three groups. Both familial and sporadic MS patients showed poorer cognitive performance in the Symbol Digit Modalities Test (SDMT) (Familial: 46.96 ± 12.59, Sporadic: 45.88 ± 14.13, Normal: 56.48 ± 11.89), California Verbal Learning Test (CVLT) (Familial: 66.90 ± 14.01, Sporadic: 68.19 ± 16.49, Normal: 75.18 ± 13.02), and the Brief Visuospatial Memory Test-Revised (BVMT-R) (Familial: 24 (12), Sporadic: 24 (12), Normal: 35 (4)) compared to healthy controls. Meanwhile, no significant differences in cognitive impairment were observed between the familial and sporadic MS groups in the SDMT (p = 1.000), CVLT (p = 0.775), and BVMT-R (p = 0.733). Furthermore, this study found significant relationships between education, depression, age, and sex with different aspects of cognitive performance in MS. Overall, both familial and sporadic MS patients demonstrated similar levels of cognitive impairment.
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.1038/s41598-024-84779-1 | DOI Listing |
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11700086 | PMC |
Case Rep Genet
December 2024
Cardiovascular Research Department, Lankenau Institute for Medical Research, Lankenau Hearth Institute, Wynnewood, Pennsylvania 19096, USA.
Structural or electrophysiologic cardiac anomalies may compromise cardiac function, leading to sudden cardiac death (SCD). Genetic screening of families with severe cardiomyopathies underlines the role of genetic variations in cardiac-specific genes. The present study details the clinical and genetic characterization of a malignant dilated cardiomyopathy (DCM) case in a 1-year-old Mexican child who presented a severe left ventricular dilation and dysfunction that led to SCD.
View Article and Find Full Text PDFSci Rep
January 2025
Faculty of Computer Science and Engineering, Shahid Beheshti University, Tehran, Iran.
Genetics plays a significant role in Multiple Sclerosis (MS), with approximately 12.6% of cases occurring in familial form. While previous studies have demonstrated differences in disease progression and MRI findings between familial and sporadic MS, there has been no comparison of cognitive impairment between them.
View Article and Find Full Text PDFNat Commun
January 2025
Shanghai Institute of Precision Medicine, Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Vangl is a planar cell polarity (PCP) core protein essential for aligned cell orientation along the epithelial plane perpendicular to the apical-basal direction, which is important for tissue morphogenesis, development and collective cell behavior. Mutations in Vangl are associated with developmental defects, including neural tube defects (NTDs), according to human cohort studies of sporadic and familial cases. The complex mechanisms underlying Vangl-mediated PCP signaling or Vangl-associated human congenital diseases have been hampered by the lack of molecular characterizations of Vangl.
View Article and Find Full Text PDFBrain Commun
December 2024
Yusuf Hamied Department of Chemistry, University of Cambridge, Cambridge CB2 1EW, UK.
Extracellular beta-amyloid aggregation and inflammation are in a complex and not fully understood interplay during hyperphosphorylated tau aggregation and pathogenesis of Alzheimer's disease. Our group has previously shown that an immune challenge with tumour necrosis factor alpha can alter extracellular beta-sheet containing aggregates in human-induced pluripotent stem cell-derived cortical neurons carrying familial Alzheimer's disease-related presenilin 1 mutations. Here, using single-molecule detection and super-resolution imaging techniques, we quantified and characterized the intra- and extracellular beta-amyloid and AT8-positive tau aggregates.
View Article and Find Full Text PDFEur J Hum Genet
January 2025
Research Unit, Hospital Universitario Nuestra Señora de Candelaria, Instituto de Investigación Sanitaria de Canarias (IISC), Santa Cruz de Tenerife, Spain.
Idiopathic pulmonary fibrosis (IPF) is a progressive, late-onset disease marked by lung scarring and irreversible loss of lung function. Genetic factors significantly contribute to both familial and sporadic cases, yet there are scarce evidence-based studies highlighting the benefits of integrating genetics into the management of IPF patients. In this study, we performed whole-exome sequencing and telomere length (TL) measurements on IPF patients and their relatives.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!