Rare Undetected Neurodegenerative Disorder That Looks Like Parkinson’s Disease, Revealed by a Study

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A Singaporean joint study revealed that patients who have been diagnosed with Parkinson's disease might have Neuronal Intranuclear Inclusion Disease (NIID). Researchers from Singapore General Hospital (SGH) and the National Neuroscience Institute (NNI) studied about two thousand participants composing of healthy individuals and Parkinson's disease patients for more than a decade. The researchers were shocked when they found NIID-causing mutations in patients with Parkinson's disease. 

According to Singapore General Hospital's senior medical laboratory scientist from the Department of Neurology and the first author of the study, Dr. Ma Dongrui, their knowledge says that this is the first time a study reports that Parkinson's disease with a NOTCH2NLC gene mutation in as seen in NIID patients. He added that the gene mutation responded to medications for Parkinson's disease, suggesting that there are factors that can influence why some develop Parkinson's disease while others develop the more severe form of NIID. He also added that while the NIID gene analysis is ongoing, the researcher discovered that a group of healthy people had a milder form of the mutations. They said that this could indicate that they are at risk of developing Parkinson's disease or NIID. 

NNI Deputy Medical Director and Director of research Professor Tan Eng King said that it would be essential for clinicians or experts to be watchful and observant on early cognitive impairment or imaging shreds of evidence that may suggest NIID in Parkinson's disease patients because it can go undetected. He added that patient's immediate family should also take precautions because NIID is a gene mutation. According to Professor Tan, the findings of their study suggest that most neurodegenerative diseases connect or common etiology. He added that determining or unraveling why a similar gene mutation leads to both mild Parkinson's disease and severe NIID can help identify new treatments or medications for the condition. 

According to Eureka Alert, the Singaporean research team is planning to conduct more studies to better understand the mechanism behind NIID and to identify new treatments for the condition. They added that additional researches would clarify the road clinical phenotype of NIID relating to elusive genetic differences.

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What is Neuro Intranuclear Inclusion Disease?

According to the National Centers for Biotechnology Information (NCBI), Nero Intranuclear Inclusion Disease of NIID is a rare neurodegenerative disease with various neurological symptoms. Eureka Alert added that this disease is a gene mutation that has no effective treatment. They further said that a patient with NIID can show symptoms such as poor balance, dementia, Parkinsonism, numbness, and weakness of the limbs. National Center for Advancing Translational Diseases said that NIID could affect any part of the nervous system and various organs. They added that the symptoms may appear anywhere from infancy to late adulthood and can be different from person to person, although in most cases, the symptoms appear during childhood. Eureka alert also mentioned that the severe form of NIID is usually seen in older patients, where the disease already proceeded to an advantage stage. 

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