Potential diagnostic efficacy of Cas9-mediated long-read sequencing in NOTCH2NLC-associated neuronal intranuclear inclusion disease
)
Neuronal intranuclear inclusion disease (NIID) is a neurodegenerative disorder characterized by eosinophilic intranuclear inclusions in neuronal and glial cells. The wide range of clinical manifestation in NIID makes the diagnosis difficult. It can be suspected by a characteristic MRI feature which is on the hyperintensity along the corticomedullary junction on diffusion-weighted imaging (zigzag edging sign). Recent studies have demonstrated that NIDD is caused by a GGC repeat expansion of the NOTCH2NLC gene and accounts for a substantial portion of undiagnosed adult-onset leukoencephalopathies.
