PMC4552392_01
Pedigree of index Family (A) associated with individual affection status and mutations segregation in the family (B).
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Fig1
This family (Figure 1) was seen at two different time point: for the first time in 2004 and later in 2012, where they underwent clinical evaluation by a neurologist (ND). The proband of the family (arrow, Figure 1-A) was accompanied by his sister and both parents. In 2004, the first case (Figure 1, Individual II-1) was 20 years of age, and was seen for one principal feature: upper limb tremor. Her sister (Figure 1, Individual II-2) was 10 years of age at the first neurological examination. In our family, the two affected siblings harbor compound heterozygote mutations: c.422G > A (p.R141H) and c.722G > C (p.C241S) (Figure 1-B).
Sagittal T1 sequence images revealed significant cerebellar atrophy, especially in cerebral vermis in the oldest son.
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Fig2
Magnetic brain imaging (MRI) revealed cerebellar atrophy (Figure 2), localised at the cerebellar hemispheres and the vermis. Her sister (Figure 1, Individual II-2) was 10 years of age at the first neurological examination. WES was performed on the unaffected mother and two affected children (Figure 1, Individuals I-2, II-2 and II-3).