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. 2024 May 20;10(3):e200147. doi: 10.1212/NXG.0000000000200147

Figure 4. A Korean Family With NOTCH2NLC-Related Disorders Identified in the Korea Biobank Cohort.

Figure 4

(A) Pedigree information of the KBB1 family. Both the first child (KBB1S) and the second child (KBB1P) exhibited cerebellar ataxia and Charcot-Marie-Tooth disease. The first child had more severe symptoms with rapid progression and died at the age of late 10s. (B) Brain MRI of both affected patients showed the zigzag edging sign and cerebellar atrophy. (C) Nanopore long-read sequencing for the family members. Both affected patients had NOTCH2NLC repeat expansions within the disease-associated range (KBB1S: 90; KBB1P: 109), while the father was found to possess an extremely long allele (574) that differed from the estimation by ExpansionHunter with the short-read data (57).