NIHID (neuronal intranuclear hyaline inclusion disease) is a neurodegenerative condition that is easy to detect but also easy to misdiagnose. Thanks to breakthroughs in MRI detection, the availability of skin biopsied pathology, and, most critically, the finding of the causative gene which can be targeted by gene therapy, the rate of NIID diagnosis before death has grown significantly in recent years. Symptoms linked with central nervous system disorders, autonomic and peripheral neuropathy, and myopathy may be experienced by patients with NIID. Regardless of how far clinical symptoms or gene identification have progressed in NOTCH2NLC gene-related repeat expansion disorders (NRED), it not only adds to our understanding of NIID, but it also adds to the number of challenges we must address. East Asia has seen a substantial number of patients with GGC repeat expansion in NOTCH2NLC. Clinicians should work together to develop a database of NIID clinical and biological samples, as well as perform additional clinical diagnostic, therapeutic assessment, and pathogenic mechanism research.
Special Issue “Genetic Advances in Neuromuscular Disorders: From Gene Identification to Gene Therapy”