P027: Volumetric MRI findings as differentiating biomarkers for juvenile-onset GM2 gangliosidoses: Tay-Sachs versus Sandhoff disease

Genetics in Medicine Open 2026 Open access

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Authors: Hera Akmal, Precilla D’Souza, Jean M. Johnston, Annie Tang, Maria Acosta, Cynthia J. Tifft
DOI: 10.1016/j.gimo.2026.103518
Cited by: 0

Abstract

The GM2 gangliosidoses, Tay-Sachs (TSD) and Sandhoff (SD) diseases, are neurodegenerative lysosomal storage disorders caused by deficiency of the heterodimeric enzyme β-hexosaminidase A. TSD results from variants in HEXA, encoding the α-subunit, whereas SD arises from variants in HEXB, encoding the β-subunit. The GM2 disorders are clinically categorized into infantile, juvenile, and late-onset forms.

Fields of Study & Subjects

Lysosomal Storage Disorders Research Glycogen Storage Diseases and Myoclonus Metabolism and Genetic Disorders

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
103518–103518
Publication date
1 January 2026
Language
EN