Abstract
• GM2 gangliosidoses are a disease continuum dependent on residual enzyme activity. • Developmental and degenerative events are part of Infantile GM2 gangliosidoses. • Infantile GM2 gangliosidoses targets gray matter, white matter, and the retina. • Late-onset GM2 gangliosidoses targets preferentially the spinal cord and cerebellum. • Late-onset GM2 gangliosidoses has features akin to other neurodegenerative diseases. • Animal and cell-based GM2 gangliosidoses models inform biology and therapeutics. • Some clinical features may distinguishing late-onset Tay-Sachs from Sandhoff disease. • Impact of future therapies depends on pre-treatment disease burden. • The time from symptom onset to molecular diagnosis remains unacceptably protracted.
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