case_images: PMC10411728_01
case_images: Magnetic resonance images (MRIs) of the patient's brain. (A) Sagittal T2-weighted brain MRI. (B) Axial T1-weighted brain MRI.
case_images: fneur-14-1228810-g0001.jpg
case_images: PMC10411728_01_fneur-14-1228810-g0001.jpg
case_images: F1
case_images: Brain magnetic resonance imaging (MRI) unveiled cerebellar atrophy with the enlargement of cerebellar sulci (Figure 1).
case_images: Sanger sequencing validation of the ATM variants of all family members.
case_images: fneur-14-1228810-g0002.jpg
case_images: PMC10411728_01_fneur-14-1228810-g0002.jpg
case_images: F2
case_images: The compound heterozygous variants, c.4195dup and c.6006 + 1G>T, were inherited from the unaffected father and mother, respectively (Figure 2).