Brainstem Substructure Atrophy in Late-Onset GM2-Gangliosidosis Imaging Using Automated Segmentation

• Published in: Cerebellum (London, England) Vol. 24; no. 2; p. 50
• Main Authors: Rowe, Olivia E., Rangaprakash, D., Eichler, Florian S., Schmahmann, Jeremy D., Barry, Robert L., Stephen, Christopher D.
• Format: Journal Article
• Language: English
• Published: New York Springer US 18.02.2025; Springer Nature B.V
• Subjects: Adult; Aged; Ataxia; Atrophy; Atrophy - diagnostic imaging; Biomedical and Life Sciences; Biomedicine; Brain stem; Brain Stem - diagnostic imaging; Brain Stem - pathology; Brief Report; Cerebellum; Female; Gangliosidoses, GM2 - diagnostic imaging; Gangliosidoses, GM2 - pathology; Gangliosidosis; Humans; Image processing; Magnetic Resonance Imaging - methods; Male; Medulla oblongata; Mesencephalon; Middle Aged; Neurobiology; Neuroimaging; Neurology; Neurosciences; Pons; Segmentation; Superior cerebellar peduncle; Structural MRI; Tay-Sachs disease; Late-Onset GM2-Gangliosidosis; Sandhoff disease

Late-Onset GM2-Gangliosidoses (LOGG) are rare, neurodegenerative lysosomal disorders that include late-onset Tay-Sachs (LOTS) and Sandhoff disease (LOSD) subtypes. Cerebellar atrophy is common, even in the absence of clinical ataxia, particularly in LOTS. Recent reports have also described brainstem...