Patients diagnosed with PD may actually have NIID

a joint study, patients diagnosed with PD may actually have NIID.Neuron kernel inclusive body disease (NIID) is a rare neurodegenerative disease newly discovered in recent years, and there is evidence that the abnormal re-amplification of GGC in the NOTCH2NLC gene is related to NIID, but there is no effective treatment. Symptoms of NIID include dementia, Parkinson's disease, poor balance, and numbness and weakness in the limbs. NiID patients may or may not experience symptoms, depending on age and stage of the disease. However, it has not been shown whether there is an association between NOTCH2NLC GGC repeat sequences and Parkinson's disease (PD).A recent joint study by the National Institute of Neuroscience in Singapore and the Singapore General Hospital showed that patients diagnosed with PD may actually have NIID. The findings are published in JAMA Neurology.The team recruited 2,076 participants over a decade, including 1,000 PD patients and 1,076 healthy participants. Genetic screening of their NOTCH2NLC GGC re-amplification revealed mutations that led to NIID in patients diagnosed with PD. A total of 13 PD patients carried NOTCH2NLC GGC repeat amplification in 40 units, 2 PD patients even appeared 122 and 79 repeat sequences, and clinical NIID cases repeated amplification more than 65 times.Dr Ma Dongrui, lead author of the study, said: "To our knowledge, this is the first study to report that PD patients carry the NOTCH2NLC gene mutation, as observed in NIID patients. Fortunately, these patients respond better to PD drugs than most PD patients, suggesting that there must be some factors that cause some people to develop PD and others to develop more severe NIDs.In addition, the team found that in some PD patients, the NOTCH2NLC GGC gene showed a slight re-amplification (40 to 64 amplifications), although the number of amplifications did not exceed 65, but the pathogenicity of the repeating range still needed further study. Amplification of 41 to 64 repeat sequences may constitute a genetic risk of PD or represent different associations, but whether this represents an internal esopolype with subsequent clinical manifestations remains a guess.Since NIID may not be detectable, it is highly doubtful whether a PD patient has NIID. Using information currently known, clinicians are aware that early cognitive impairment or imaging evidence may indicate NIID in patients diagnosed with PD. The researchers also suggest that because NIID is caused by a genetic mutation, it is also necessary to look for family members of PD patients who may show NIID symptoms.In the future, the team plans to do more research to understand the mechanisms behind NIID and find new drugs for this situation. Whether NIID's extensive clinical esotericity is related to subtle genetic differences in NOTCH2NLC gene points, race, or other factors needs to be studied in depth. However, long-term follow-up to carriers of genetic mutations with PD esotypes may provide other clues.Overall, the results suggest that many neurodegenerative diseases overlap and may share common causes. Finding common links and revealing why similar genetic mutations cause two diseases (mild PD and severe NIID) can help in finding new drugs for these diseases. (Biological Exploration):1. Association of NOTCH2NLC Repeat Expansions With Parkinson Disease2.