PMC6094996_01
Brain MRI data of the proband showed progressive, symmetrical, mild atrophy of the caudate heads. (A,B) Axial T1- and T2-weighted MRI images were taken at 31 year old. (C,D) Axial T2-weighted and flare images were taken at 33 year old.
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F1
Brain magnetic resonance imaging (MRI) showed progressive, symmetrical, mild atrophy of the caudate heads (Figure 1).
Pedigree of the present family. Blackened symbol indicates individuals with ChAc; blackened symbols at the upper left and upper right indicate involuntary movements and seizures, respectively. The combinations of plus and minus signs indicate the genotypes of VPS13A; a plus sign (+) indicates the c.8823C > G mutant allele of VPS13A, and a minus sign (-) indicates the normal VPS13A allele.
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F2
The father of the proband did not show any neurological abnormalities and died from pneumonia at 65 years old (Figure 2). The mother of the proband (II-3), a 65-year-old woman, showed mild involuntary movements in her limbs since the age of 45 years (Figure 2). The proband's uncle (II-5), a 52-year-old man, showed mild cognitive impairment (MMSE 24), characterized by memory impairment and had seizures history of 31 years, which were simple partial seizures and treated with antiepileptic drugs (Figure 2).
Mutational analysis of VPS13A in the ChAc family. (A) Sanger sequencing revealed that a homozygous nonsense mutation c.8823C > G (p. Tyr2941*) in exon 65 of VPS13A was detected in the proband. (B) Both II-3 and II-5 had the heterozygous mutation c.8823C > G of VPS13A. (C) Wild-type sequence.
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F3
Tyr2941*) in exon 65 of VPS13A in the proband (Figure 3A). Five members of the family including the proband's mother (II-3) and his uncle (II-5) were detected to be heterozygous for mutation c.8823C > G (Figures 3B,C).