PMC9974634_01
(A) Brain MRI of the proband. (B) SEMA6B gene sequencing of the family members. (C) Genetic pedigree of the family and corresponding individual genotypes. (D) The alignment of SEMA6B amino acid sequences.
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F1
Magnetic resonance imaging (MRI) revealed mild cortical and cerebellar atrophy (Figure 1A). One of the proband's sisters began having seizures, gait disturbances, and cognitive impairment in her 50s (Figure 1B). The proband's sister carried the same heterozygous mutation (Figure 1C).