Neurol India Close
 

Figure 1: (a) T2-weighted MRI showed bilateral atrophic striata and high signals outside the putamen on both sides. (b) RNA analysis from whole blood sample cDNA. We found a 7 bp deletion in exon1 of the VPS13A gene and a 4 bp deletion in exon 55. Both mutations are linked to frameshift, downstream codon stoppage. (c) Western blot analysis of chorein protein erythrocyte membrane fractionation. We found defects of a corresponding band of full-length chorein for the patient

Figure 1: (a) T2-weighted MRI showed bilateral atrophic striata and high signals outside the putamen on both sides. (b) RNA analysis from whole blood sample cDNA. We found a 7 bp deletion in exon1 of the <i>VPS13A</i> gene and a 4 bp deletion in exon 55. Both mutations are linked to frameshift, downstream codon stoppage. (c) Western blot analysis of chorein protein erythrocyte membrane fractionation. We found defects of a corresponding band of full-length chorein for the patient