Article
Late-Onset Tay-Sachs Disease With SMALED-Like Muscle MRI Pattern Despite a Distinct Clinical Phenotype.
Journal of the peripheral nervous system : JPNS - 1 Sept 2026
Frezatti Rodrigo Siqueira Soares, Gonçalves Trajano Aguiar Pires, de Albuquerque Bueno Manoella Guerra, Dos Santos André Clériston José, Wilson Lindsay A, Dominik Natalia, Hanna Michael G, Morrow Jasper, Rossor Alex M, Reilly Mary M, Tomaselli Pedro José, Marques Wilson
Abstract excerpt
BACKGROUND: Late-onset Tay-Sachs disease (LOTS) is a rare lysosomal disorder that contrasts with the classical infantile form by presenting with milder and heterogeneous neurological manifestations, including lower motor neuron phenotypes. While muscle MRI fatty infiltration patterns have been described in selected inherited motor neuron disorders, the corresponding imaging features in LOTS remain poorly defined....
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