FIGURE

Fig. 2

ID

ZDB-FIG-240206-22

Publication

Accogli et al., 2023 - Clinical, neuroradiological and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder

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Fig. 2

Neuroradiological features of individuals with biallelic TARS2 variants and of a control subject for comparison. Most of the individuals present cerebellar atrophy (open arrows) variably associated with cerebellar cortex signal alterations and dentate nuclei T2/FLAIR hyperintensity (arrowheads). There is mild-to moderate white matter volume loss and/or enlargement of the cerebral CSF spaces in most individuals. The corpus callosum is thin in 8 individuals (thick arrows). Note the faint T2 signal abnormalities in the globi pallidi (dashed arrows) and putamen/caudate nuclei (thin arrows). CSF, cerebrospinal fluid.

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

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