Purpose: Genetic factors are the only identified cause of idiopathic generalized epilepsies (IGEs), but the majority of cases do not have affected first-degree relatives. Here we investigate whether subjects with sporadic and familial IGE differ in terms of antecedent events and clinical and EEG features. Differences would support the hypothesis of a different etiology for sporadic cases, which has implications for choice of subjects for genetic association studies.
Methods: We analyzed 98 patients with IGE, diagnosed on clinical and EEG criteria. All patients and, if possible, one relative were interviewed, with special emphasis on potential antecedent events and family history. Patients with first-degree relatives affected with epileptic seizures were regarded as "familial," and the other patients were regarded as "sporadic."
Results: Of the 98 IGE patients, 32 (33%) patients were familial. The risk for seizures was 13.2% for siblings, and 7.7% for parents. The distribution of the IGE subsyndromes, the presence of antecedent events, and other electroclinical features did not differ between familial and sporadic IGE groups.
Conclusions: No differences were found between familial and sporadic IGE patients. This does not the support the hypothesis that sporadic and familial IGE cases have separate etiologies.
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http://dx.doi.org/10.1046/j.1528-1157.2001.03201.x | DOI Listing |
Pediatr Blood Cancer
January 2025
Department of Oncology, Children's Hospital of Nanjing Medical University, Jiangsu, China.
Background: Compared to colorectal cancer (CRC) in adults, CRC in children is extremely rare. Although its incidence has increased recently, there is a lack of clinical research on the disease. Inherited cancer susceptibility syndromes (ICSS), a group of disorders in which patients are predisposed to susceptibility to a wide range of tumors as a result of pathogenic mutations in genes in their germ line, are an important cause of CRC in children.
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February 2025
Tampere University Hospital, Wellbeing Services County of Pirkanmaa, Tampere, Finland.
Background: MECP2 variants cause X-chromosome-linked rare developmental syndromes. Typically, the mutation is sporadic, occurs in females and is fatal in men. Accurate genetic and clinical diagnostics are considered essential for the management of symptoms and the development of new treatments.
View Article and Find Full Text PDFFEBS J
January 2025
From the Department of Biological Sciences, Delaware State University, Dover, DE, USA.
Amyotrophic lateral sclerosis (ALS) is an incurable neurodegenerative disease that affects neurons in the brain and spinal cord, causing loss of muscle control, and eventually leads to death. Phosphorylated transactive response DNA binding protein-43 (TDP-43) is the major pathological protein in both sporadic and familial ALS, forming cytoplasmic aggregates in over 95% of cases. Of the 10-15% of ALS cases that are familial, mutations in TDP-43 represent about 5% of those with a family history.
View Article and Find Full Text PDFJ Neuroinflammation
January 2025
Department of Translational Neuroscience, Barrow Neurological Institute, Phoenix, AZ, 85013, USA.
The ApoE ε4 allele (APOEε4) is a major genetic risk factor for sporadic Alzheimer's disease (AD) and is linked to demyelination and cognitive decline. However, its effects on the lipid transporters apolipoprotein E (ApoE) and fatty acid-binding protein 7 (Fabp7), which are crucial for the maintenance of myelin in white matter (WM) during the progression of AD remain underexplored. To evaluate the effects of APOEε4 on ApoE, Fabp7 and myelin in the WM of the frontal cortex (FC), we examined individuals carrying one ε4 allele that came to autopsy with a premortem clinical diagnosis of no cognitive impairment (NCI), mild cognitive impairment (MCI) and mild to moderate AD compared with non-carrier counterparts.
View Article and Find Full Text PDFCureus
December 2024
Internal Medicine, Hospital Angeles Pedregal, Mexico City, MEX.
Prion disease is an uncommon entity characterized by exceptionally rapid neurodegenerative deterioration. There are three categories of prion disease: (1) sporadic: sporadic Creutzfeldt-Jakob disease (sCJD), sporadic fatal insomnia, and protease-sensitive prionopathy; (2) genetic: genetic Creutzfeldt-Jakob disease, familial fatal insomnia, and Gerstmann-Sträussler-Scheinker syndrome; and (3) acquired: Kuru, iatrogenic Creutzfeldt-Jakob disease, and variant Creutzfeldt-Jakob disease. Although it is an incurable disease, a specific pathophysiological mechanism exists involving neuronal loss, glial cell proliferation, absence of inflammatory response, development of vacuoles leading to a spongiform appearance, and the presence of prions.
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