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Fig. 1 | BMC Medical Genetics

Fig. 1

From: Homozygous GRID2 missense mutation predicts a shift in the D-serine binding domain of GluD2 in a case with generalized brain atrophy and unusual clinical features

Fig. 1

Pedgree, genotypes and MRI of the consanguineous family segregating the GRID2 variant (a) Pedigree and genotypes of the consanguineous family segregating GRID2 mutation c.2128C > T, p.(Arg710Trp). (b) MRI findings in ind. V:2 showing slight to moderate widening of cerebral ventricles (arrow). (c) Slight to moderate widening of cerebral sulci (long arrow) and prominent perivascular spaces (short arrow). (d) Slightly widened cerebellar sulci (short white arrow). (e) Widened cerebellar sulci (short white arrow). The retrocerebellar arachnoid cyst with slight compression of the vermis (long white arrow) and some degree of intrasellar cisternal herniation (black arrow) are likely incidental findings. The combined MRI findings indicate a slight and general brain atrophy without involvement of the brainstem. Transverse (b-d) and sagittal (e) T2-weighted images. Images were obtained on a 1.5 T scanner, and included sagittal T1- and T2-weighted and axial T2-weighted images with a slice thickness of 5 mm. The abnormalities were assessed qualitatively and based on age related reference subjects [8]

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