PMC5588509_01
Magnetic resonance imaging scan of the patient. The arrow indicates cerebellar atrophy, while the arrowhead points to the dilated 4th ventricle.
mpp-0025-0580-g01.jpg
PMC5588509_01_mpp-0025-0580-g01.jpg
F1
X-ray computer tomography and magnetic resonance imaging of the brain revealed cerebellar atrophy with a dilated 4th ventricle (fig. 1).
Chromatograms of the patient (a), mother (b) and father (c) showing the indel mutation. d Schematic diagram showing the deletion in the context of the gene structure. The box with a red outline represents the deletion, while the shaded box with a green outline shows the ER signal sequence (colors refer to the online version only).
mpp-0025-0580-g02.jpg
PMC5588509_01_mpp-0025-0580-g02.jpg
F2
Both parents turned out to be heterozygous carriers of the same c.-197_90delinsCTGTACTTTCTCAGTTCACT mutation (fig. 2).