Deep Learning Cerebellar Magnetic Resonance Imaging Segmentation in Late-Onset GM2 Gangliosidosis: Implications for Phenotype.

ABSTRACT: Late-onset Tay-Sachs (LOTS) disease and late-onset Sandhoff disease (LOSD) have long been considered indistinguishable due to similar clinical presentations and shared biochemical deficits. However, recent magnetic resonance imaging (MRI) studies have shown distinct cerebellar atrophy associated with LOTS. In this study, we furthered this investigation to determine if the cerebellar atrophy is globally uniform or preferentially targets certain cerebellar regions. We utilized DeepCERES, a deep learning cerebellar specific segmentation and cortical thickness pipeline to analyze differences between LOTS (n=20), LOSD (n=5), and neurotypical controls (n=1038). LOTS had smaller volumes of the whole cerebellum as well as cerebellar lobules IV, V, VI, VIIB, VIIIA, VIIIB, IX, and both Crus I

SUBMITTER: Lewis CJ 

PROVIDER: S-EPMC12036421 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature