نتایج جستجو برای: پروتیین پریون جهش شبیهسازی دینامیک مولکولی مولکولار مدلینگ cjd
تعداد نتایج: 22527 فیلتر نتایج به سال:
Clinical features of genetic Creutzfeldt-Jakob disease with V180I mutation in the prion protein gene
OBJECTIVES Genetic Creutzfeldt-Jakob disease (CJD) due to V180I mutation in the prion protein gene (PRNP) is of great interest because of the differences from sporadic CJD and other genetic prion diseases in terms of clinical features, as well as pathological and biochemical findings. However, few systematic observations about the clinical features in patients with this unique mutation have bee...
OBJECTIVE To evaluate the diagnostic usefulness of magnetic resonance imaging (MRI) in the clinical diagnosis of Creutzfeldt-Jakob disease (CJD). BACKGROUND Creutzfeldt-Jakob disease is a rare neurodegenerative disease that belongs to the group of human spongiform encephalopathies and usually affects elderly people. It is clinically characterized by rapidly progressive dementia and developmen...
Sporadic Creutzfeldt-Jakob disease (CJD) is clinically characterized by rapidly progressive dementia combined with other cardinal symptoms, such as myoclonus, visual or cerebellar disturbances, extrapyramidal or pyramidal disturbance, and akinetic mutism. However, as an initial manifestation, focal neurologic deficits other than the aforementioned or nonspecific generalized symptoms may lead to...
BACKGROUND Creutzfeldt-Jakob disease (CJD) is a rapidly progressive and fatal neurodegenerative disorder for which there is no noninvasive and disease-specific test for premortem diagnosis. Previous studies have suggested that, in the proper clinical context, the 14-3-3 protein in cerebrospinal fluid is a reliable marker for sporadic CJD. OBJECTIVE To assess the sensitivity of the cerebrospin...
The diagnosis of Creutzfeldt-Jakob disease (CJD) is still made by exclusion of other dementias. We now evaluated lactate dehydrogenase (LDH) in the cerebrospinal fluid (CSF) as a possible additional diagnostic tool. CSF LDH levels of patients with CJD (n = 26) were compared with those in other dementias (n = 28). LDH isoenzymes were determined in a subset (n = 9). Total LDH and isoenzyme LDH-1 ...
While familial cases of Creutzfeldt-Jakob disease are extremely rare all over the world, 3 familial clusters were observed between 1983-2000 in a relatively small area situated in the North of Slovakia. Prevalence of CJD in this area exceeded the overall prevalence in Slovakia more than 8 times. The majority of CJD patients admitted consuming sheep brain. Most patients lived in small secluded v...
Here, we present a patient with Creutzfeldt-Jakob disease (CJD) who developed initial symptoms mimicking progressive supranuclear palsy (PSP). Before the development of typical CJD symptoms, functional imaging supported a diagnosis of PSP when [(123)I]-FP-CIT-SPECT showed a defect in striatal dopamine transporter binding, while [(18)F]-fluorodeoxyglucose PET showed cortical hypometabolism sugge...
Hashimoto’s encephalopathy (HE) is a rare neurological disorder with a heterogeneous group of neurological symptoms.1 Sporadic Creutzfeldt-Jakob disease (CJD) is the most common human prion disease and usually manifests as a rapidly progressive dementia, with ataxia and myoclonus leading to death in less than 1 year.2 CJD shares common clinical features with HE, and dementia, myoclonus, extrapy...
To study the potential diagnostic value of abnormally phosphorylated tau protein in Creutzfeldt-Jakob disease (CJD) compared to Alzheimer's disease (AD), we determined levels of tau phosphorylated at threonine 231 (p-tau231) and of total tau (t-tau) in cerebrospinal fluid (CSF) of CJD patients, AD patients, and healthy controls (HC). CJD patients showed excessively high t-tau levels but relativ...
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