Late-onset GM2 gangliosidosis: magnetic resonance imaging, diffusion tensor imaging, and correlational fiber tractography differentiate Tay-Sachs and Sandhoff diseases.

ABSTRACT: GM2 gangliosidosis is lysosomal storage disorder caused by deficiency of the heterodimeric enzyme β-hexosaminidase A. Tay-Sachs disease is caused by variants in HEXA encoding the α-subunit and Sandhoff disease is caused by variants in HEXB encoding the β-subunit. Due to shared clinical and biochemical findings, the two have been considered indistinguishable. We applied T1-weighted volumetric analysis, diffusion tensor imaging (DTI), and correlational fiber tractography to assess phenotypic differences in these two diseases. 51 T1-weighted and 40 DTI scans from 19 Late-Onset GM2 patients with either late-onset Sandhoff disease (LOSD), or late-onset Tay-Sachs (LOTS) were included and compared to 1033 neurotypical control volumetric MRI scans. LOTS patients had significantly smaller cerebellu

SUBMITTER: Lewis CJ 

PROVIDER: S-EPMC12018622 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature