Fig. 1: Magnetic resonance image (MRI) features of the patients with identified causal or strongly candidate pathogenic variants. | Genetics in Medicine

Fig. 1: Magnetic resonance image (MRI) features of the patients with identified causal or strongly candidate pathogenic variants.

From: Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies

Fig. 1

a WDR81: P1 (17 years): midsagittal T1-weighted sequence showing a small vermis with enlargement of interfolium spaces (anterior lobe) and an enlarged primary fissure. Note the thin splenium of the corpus callosum. Coronal T2-weighted image showing a slight diffuse enlargement of the interfolium spaces of the cerebellar hemispheres. b SNX14: P2 (10 years): midsagittal T1-weighted sequence and coronal T2-weighted image showing a small vermis and diffuse enlargement of the interfolium spaces in both the cerebellar vermis and hemispheres. c SACS: P3 (6 years): midsagittal T1-weighted sequences showing enlargement of interfolium spaces (anterior lobe and rostral part of the posterior lobe). Axial FLAIR images showing linear hypointensities of the pons. d ITPR1: P5 (5 years): midsagittal T1-weighted sequences showing a slightly undersized vermis with enlargement of the interfolium spaces (anterior lobe and rostral part of the posterior lobe). Coronal T2-weighted image showing enlargement of interfolium spaces in the upper part of the cerebellar hemispheres. e STXBP1: P6 (4 years): axial T2-weighted and coronal fluid attenuation inversion recovery (FLAIR) sequences showing a normal cerebellum. f CACNA1A: P16 (4 years): midsagittal and coronal T2-weighted sequences showing enlargement of the interfolium spaces, affecting predominately the anterior lobe of the vermis. g AP4M1: P10 (18 years): midsagittal T2-weighted and coronal IR sequences showing the cerebellar vermis with an enlargement of the interfolium spaces (rostral part of the posterior lobe) and an enlarged primary fissure. The lateral part of the cerebellar hemispheres presents an enlargement of the interfolium. The hemispheric white matter volume is abnormally reduced and associated with asymmetric ventricular dilatation and thinning of the posterior part of the corpus callosum. h BRAT1: P9 (4 years): midsagittal T1- and coronal T2-weighted sequences showing a small vermis and diffuse enlargement of interfolium spaces of the entire cerebellum. i CACNA2D2: P12 (18 years): midsagittal T1- and coronal T2-weighted sequences showing a small vermis with enlargement of the interfolium spaces of the anterior lobe and an enlarged primary fissure. The cerebellar hemispheres are normal. j NGLY1: P10 (5 years): midsagittal T1-weighted and coronal T2-weighted sequences showing slight dilatation of the left ventricle with a normal posterior fossa. k PIGS: P14 (3 years): midsagittal T1- and coronal T2-weighted sequences showing diffuse enlargement of the interfolium spaces of the entire cerebellum. l SKOR2: P15 (10 years): midsagittal T1-weighted sequences showing a small pons and a small vermis, and coronal T2-weighted sequences showing abnormal foliation and small hemispheres. Note that the entire posterior fossa seemed to be small with verticalization of the tentorium.

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