Fig. 1: Magnetic resonance image (MRI) findings in individuals with recessive AARS1-related disease.
From: Expanded phenotype of AARS1-related white matter disease
Evaluation of the neuroimaging findings between individuals with early infantile–onset disease in comparison to late-onset individuals. Sagittal and axial T1 and T2 weighted images were compared for all individuals. Diffusion-weighted and fluid-attenuated inversion recovery (FLAIR) images were compared where available. (a, b) In individuals with early infantile–onset there is early evidence of deficient myelination. At 4 months of age in I-9, there is absent myelination in early myelination structures, including the posterior limb of the internal capsule and mild ventriculomegaly suggesting a degree of cerebral volume loss. At 6 years, profound cerebral atrophy is seen. (b) Some individuals with early infantile–onset disease achieve a mild degree of myelination, but there is some cerebral atrophy and a persistent deficiency in myelination over time. (c–e) In individuals with late-onset disease, age at disease onset and neuroimaging features are more variable. In all individuals shown, there appears to be preferable involvement of the splenium of the corpus callosum seen on both sagittal (white arrow) and axial imaging (white arrowhead, d and e). (c) In the individual with late-onset disease and available follow-up imaging over time, there is progressive involvement to affect the frontal white matter and the remainder of the corpus callosum (dashed white arrow). There is also progressive cerebral atrophy. (d) There is progressive cerebral white matter involvement and areas of restricted diffusion in the affected periventricular white matter in cases with diffusion-weighted imaging obtained during the period of clinical decline. These features in late-onset disease were reminiscent of neuroimaging features seen AARS2-related disorder.
