Imagine a mysterious puzzle that affects not only the brain but also multiple systems in the body, causing a wide range of symptoms. This is what researchers are uncovering about neuronal intranuclear inclusion disease (NIID). Known for its varying clinical presentation, NIID is often misdiagnosed as it mimics other diseases. However, recent advancements shed light on the core symptoms in the central nervous system that serve as crucial clues for diagnosis: dementia, parkinsonism, and psychiatric symptoms. Thanks to genetic studies, scientists have identified expanded GGC repeats in the NOTCH2NLC gene as the cause of NIID. The review also explores potential mechanisms behind NIID, like DNA damage from these expanded repeats, RNA toxicity, and toxicity from polyglycine-NOTCH2NLC protein. Additionally, researchers have observed signs of inflammation in affected tissues of NIID patients, suggesting that targeting inflammation could be a potential treatment avenue. To learn more about this enigmatic disease and the exciting advances in understanding its complexity, dive into the full research article!
Due to the high clinical heterogeneity of neuronal intranuclear inclusion disease (NIID), it is easy to misdiagnose this condition and is considered to be a rare progressive neurodegenerative disease. More evidence demonstrates that NIID involves not only the central nervous system but also multiple systems of the body and shows a variety of symptoms, which makes a clinical diagnosis of NIID more difficult. This review summarizes the clinical symptoms in different systems and demonstrates that NIID is a multiple-system intranuclear inclusion disease. In addition, the core triad symptoms in the central nervous system, such as dementia, parkinsonism, and psychiatric symptoms, are proposed as an important clue for the clinical diagnosis of NIID. Recent studies have demonstrated that expanded GGC repeats in the 5′-untranslated region of the NOTCH2NLC gene are the cause of NIID. The genetic advances and possible underlying mechanisms of NIID (expanded GGC repeat-induced DNA damage, RNA toxicity, and polyglycine-NOTCH2NLC protein toxicity) are briefly summarized in this review. Interestingly, inflammatory cell infiltration and inflammation were observed in the affected tissues of patients with NIID. As a downstream pathological process of NIID, inflammation could be a therapeutic target for NIID.
Dr. David Lowemann, M.Sc, Ph.D., is a co-founder of the Institute for the Future of Human Potential, where he leads the charge in pioneering Self-Enhancement Science for the Success of Society. With a keen interest in exploring the untapped potential of the human mind, Dr. Lowemann has dedicated his career to pushing the boundaries of human capabilities and understanding.
Armed with a Master of Science degree and a Ph.D. in his field, Dr. Lowemann has consistently been at the forefront of research and innovation, delving into ways to optimize human performance, cognition, and overall well-being. His work at the Institute revolves around a profound commitment to harnessing cutting-edge science and technology to help individuals lead more fulfilling and intelligent lives.
Dr. Lowemann’s influence extends to the educational platform BetterSmarter.me, where he shares his insights, findings, and personal development strategies with a broader audience. His ongoing mission is shaping the way we perceive and leverage the vast capacities of the human mind, offering invaluable contributions to society’s overall success and collective well-being.