case_images: PMC7475752_01
case_images: Pedigree of the family.
case_images: CRINM2020-7219514.001.jpg
case_images: PMC7475752_01_CRINM2020-7219514.001.jpg
case_images: fig1
case_images: Cognition remained normal.  Figure 1 details the family history. Testing demonstrated the identical variant in the affected cousin, but not the unaffected sister (see pedigree:Figure 1), supporting the hypothesis that this novel variant is pathogenic, though functional expression studies were not done.