帕金森症 z-bio 2021-02-10 317

　　A collaborative study between the National Institute of Neuroscience (NNI) and Singapore General Hospital (SGH) has shown that patients diagnosed with Parkinson's disease may actually have NIID. IID is a neurodegenerative disease caused by genetic mutations, and there is currently no effective treatment. Symptoms of IID include dementia, Parkinson's disease, limb imbalance, numbness and weakness. People with IID may or may not experience symptoms, depending on their age and stage. The severe symptoms of IID usually appear in elderly patients.

　　The team has conducted research on more than 2,000 study participants in the past ten years, including healthy individuals and Parkinson’s disease patients. They were surprised that NIID mutations were caused by patients diagnosed with PD. Dr. Ma Dongrui, a senior laboratory scientist in SGH Neurology and the lead author of the study, explained: “As far as we know, this is the first study to report PD patients with NOTCH2NLC gene mutations in NIID patients. The drug response is better than most PDs. Patients, some people develop PD. However, there should be several factors that can influence why many others develop more severe NIID. Analysis by the research team After IID gene, a group of healthy participants was found, and these mutations were found to be more "mild." Such mutations in the IID gene may indicate the risk of developing NIID or PD. It may also be needed in PD patients because NIID may not be detected. For clinicians, it may be beneficial to pay attention to early cognitive impairment or imaging evidence, which may be based on what we currently know may indicate that patients diagnosed with PD have NIID. Because NIID is caused by genetic mutations, we also need to look for PD patients whose family members may show signs of NIID," said Professor Tan Eng King, NI Deputy Medical Director and Research Director.

　　"Our findings indicate that many people have overlapping neurodegenerative diseases, which may have a common cause. Similar genes have a common link and lead to mild PD and severe NIID. Elucidating the cause of the mutation will help. To find new drugs in these situations."

　　After conducting this study, the research team will better understand the mechanism of NIID and this situation, and will conduct further research to find new drugs corresponding to the disease; in order to understand the broad clinical aspects of NIID, further studies are needed. Research to determine the genetic difference of NOTCH2NLC locus, race or other factors, PD phenotype may provide other clues for long-term follow-up of genetic mutation carriers.