نتایج جستجو برای: prnp
تعداد نتایج: 934 فیلتر نتایج به سال:
BACKGROUND Prionopathies are characterized by spongiform brain degeneration, myoclonia, dementia, and periodic electroencephalographic (EEG) disturbances. The hallmark of prioniopathies is the presence of an abnormal conformational isoform (PrP(sc)) of the natural cellular prion protein (PrP(c)) encoded by the Prnp gene. Although several roles have been attributed to PrP(c), its putative functi...
Abstract Background and Aims Chronic kidney disease (CKD) is an irreversible degenerative characterized by gradual loss of renal function, contributing to high morbidity mortality as well heavy economic cost society. Clinically, there are few available strategies slow CKD progression. Because the uremic phenotypes include many features aging, considered a premature aging syndrome. Neurodegenera...
The c.341G>T (p.G114V) variant of the prion protein gene (PRNP) has been reported in a Uruguayan and a Chinese family to cause an inheritable prion disease, albeit with incomplete penetrance. The condition is characterized by early-onset, relatively prolonged course, early neuropsychiatric symptoms, followed by pyramidal and extrapyramidal symptoms. We present a 20-year-old African American wom...
BACKGROUND Gerstmann-Sträussler-Scheinker disease (GSS) is a type of human transmissible spongiform encephalopathy (TSE) that is determined genetically. CASE REPORT A 46-year-old woman presented with a slowly progressive ataxic gait and cognitive decline. She was alert but did not cooperate well due to severe dementia and dysarthria. High signal intensities in the cerebral cortices were evide...
A novel point mutation resulting in a glutamate-to-glycine substitution in PRNP at codon 200, E200G with codon 129 MV polymorphism (cis valine) and type 2 PrPSc was identified in a patient with a prolonged disease course leading to pathology-proven Jakob-Creutzfeldt disease. Despite the same codon as the most common genetic form of human PRNP mutation, E200K, this novel mutation (E200G) present...
Introduction: The prion diseases form a group of fatal neurodegenerative diseases, also described as transmissible spongiform encephalopathies (TSEs), which are caused by abnormal conformational isomers (PrP) of the host-encoded prion proteins (PrP) (1). The mechanism by which prions elicit brain damage and the relative contributions of PrP accumulation and PrP depletion to the prion replicatio...
Natural selection is expected to leave distinctive signatures on patterns of neutral variation that are tightly linked to a site carrying an advantageous mutation. This notion is the basis for molecular population genetics approaches to the analysis of adaptations in the human genome. In principle, this is an attractive prospect; in practice, several complications and challenges make it difficu...
Human prion brain disease has been studied intensely since 1920. Examples of such diseases include Creutzfeldt-Jakob disease (CJD), fatal familial insomnia, Gerstmann-StrausslerScheinker disease, and Kuru. Central in the epidemiology and pathogenesis of prion diseases is the prion protein itself and the gene for this protein resides on chromosome 12, at locus 20pterp12. The prion protein is ter...
The missense P39L variant in the prion protein gene (PRNP) has recently been associated with frontotemporal dementia (FTD). Here, we analyzed the presence of the P39L variant in 761 patients with FTD and 719 controls and found a single carrier among patients. The patient was a 67-year-old male, with a positive family history for dementia, who developed apathy, short term memory deficit, and pos...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید