PMC6494930_01
Clinical information of all patients in four families. (A) Pedigrees of the four families. Proband (F1 II:2) and proband's elder brother (F1 II:1) in family 1 and proband's elder sister (F3 II:1) in family 3 passed away. The little brother of proband in family 4 (F4 II:2) was just 1 year old and did not reach the general onset age, 3-4.5 years old. However, he was identified with the same pathogenic gene as his sister, the proband of family 4. (B) Overview of the main clinical features of all patients. Clinical course of all patients is nearly identical except for the earlier onset age and different initial symptom in family 1. (C) MRI images from 4 probands demonstrating severe cerebellar atrophy in all patients. Atrophy in cerebrum and brain stem was observed in proband 1 of family 1 (a, b). Abnormal myelination in white matter was found in proband 3 of family 3.
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F1
Pedigrees of four families were presented in Figure 1A. Two patients in family one died at age seven, one patient in family three died at age 16 (for a comparison of all patients see Figure 1B). Proband in family 1 also had very significant cerebral atrophy accompanied by atrophy of brain stem, while proband in family three had abnormal myelination (Figure 1C).