Fatal familial insomnia cases12/31/2023 ![]() After mixed evenly, it was centrifuged at 5000 rpm for 3 seconds, with the precipitate collected. The purified resin was then washed twice with 0.5 mL of rinsing solution. After mixed uniformly, it was centrifuged at 5000 rpm for 3 seconds, with the precipitate collected. The purified resin was suspended with 1 mL of GN binding solution. During this period, it was mixed with upside down once, and then centrifuged at 5000 rpm for 3 seconds, with the precipitate collected. Subsequently, it was incubated at room temperature for 3 minutes. After gently shaken and mixed, 0.3∼0.5 mL was transferred to 1 mL of purified resin, followed by the inverted mixing operations 5 to 6 times. It is hoped that it can provide a basis for the research of FFI and promote the development of research on this disease in China.Ģ mL of peripheral blood was drawn from the proband, his mother, sister, and daughter, respectively, added to an anticoagulation test tube containing sodium citrate. In the study, an FFI patient with depression, treated in the Third People's Hospital of Foshan, was selected as the research subject, with the related literature summarized. In other words, the research data of the disease is extremely lacking, seriously hindering the research progress of FFI in China. At present, there are few reports about the disease in China. Based on the above research, it is concluded that different races may have distinct susceptibility to FFI, clinical symptoms, pathological test results, and genetic test results. They found that compared with the European population, the frequency of the 129 M/M gene in the Han, Uighur, and Hui populations in China is significantly higher, suggesting that the Chinese population is more likely to be infected with PRNP. In recent years, domestic scholars have conducted research on the PRNP gene of the Chinese mainland population. Taken together, there are no accurate and comprehensive diagnostic criteria for FFI, which is not conducive to the diagnosis and treatment of FFI. ![]() If the PRNP allele C129 is methionine, it is fatal insomnia, and if C129 is valine, it is human Creutzfeldt-Jakob disease. Both PRNP diseases are related to D178 mutations. Some scholars have conducted comparative studies on FFI and human Creutzfeldt-Jakob disease, both belonging to PRNP diseases. Some scholars conducted research on cases of dementia that were misdiagnosed as Alzheimer's disease, and then they were further diagnosed as having FFI through genetic testing. For example, it was noted that there were FFI cases with Biot's respiration as the main manifestations. However, there are also reports that the main clinical manifestations of some FFI patients are not consistent with those mentioned above. Neuropathological examination of the 3 patients all found degeneration of the thalamus and olive nucleus, and gene sequencing revealed the PRNP gene 178 mutation. It was found that all 3 patients had dyskinesia and sleep disorders, which progressed rapidly, and all 3 patients died within 5 to 10 days after the onset. For example, an Italian scholar conducted a study on 3 FFI patients in the same family. PRNP test results mostly show that the D178N gene locus has mutations. The main pathological features are massive loss of thalamic neuronal cells and glial cell proliferation. ![]() With the continuous development of molecular biology, some scholars are trying to study the disease from the molecular and protein level.įFI is clinically believed to be generally manifested as refractory insomnia, dyskinesia, and endocrine changes. Consequently, the pathogenesis is still not very clear. There are still not many reports on the disease currently. The first case was reported in 200in China, and many cases have been reported since then. FFI, as the rarest kind of PRNP disease, was first reported by foreign scholars in 1986, and there have been many reports about it from abroad since then. Studies on its etiology have found that the variant PRNP uses itself as a template to change the high-level results of normal PRNP and replicate them in large quantities, resulting in a large amount of variant PRNP accumulating in nerve cells and ultimately leading to nerve cell death and glial cell proliferation. The PRNP diseases initially manifest as dementia and dyskinesia, and there is no effective treatment for the disease at present. FFI is also a rare long chromosome mutation disease. Currently known common PRNP diseases are Creutzfeldt-Jakob disease, Kuru disease syndrome, and FFI. Fatal familial insomnia (FFI) is a kind of hereditary prion protein (PRNP) diseases. ![]()
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