Spatial and Temporal Distribution of White Matter Lesions in NOTCH2NLC-Related Neuronal Intranuclear Inclusion Disease

BACKGROUND AND OBJECTIVES: -related NIID. METHODS: test, Mann-Whitney test, or correlation analysis. WML development patterns were summarized based on the longitudinal observation of MRI characteristics. RESULTS: = 0.048). Longitudinal MRI retrospection in 7 patients over an average of 9.6 ± 2.9 years revealed 3 gradually progressed WML patterns: periventricular-subcortical, periventricular-dominant, and corticomedullary junction-dominant. In addition, 3 patients experienced rapid WML expansion associated with mitochondrial encephalomyopathy with lactic acidosis and stroke (MELAS)-like episodes. DISCUSSION: Our analysis revealed the radiologic characteristics and spatial distribution of WMLs and demonstrated significant correlations between FLAIR hyperintensity volume and age/cognitive levels in NIID. Long-term retrospection revealed 3 types of gradual WML expansion patterns while MELAS-like episodes cause rapid WML aggravation. Although results should be confirmed in a larger cohort, these insights enhance understanding of NIID's clinical-radiologic relationships and pathogenesis.