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Methods for In situ Quantification of Mitochondrial Morphology in Muscle and Terminal Schwann Cells of Mice
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Late-Onset Tay-Sachs Disease With SMALED-Like Muscle MRI Pattern Despite a Distinct Clinical Phenotype

Rodrigo Siqueira Soares Frezatti1, Trajano Aguiar Pires Gonçalves1, Manoella Guerra de Albuquerque Bueno1

  • 1Department of Neurosciences and Behaviour Sciences, Neuromuscular Disorders, University of São Paulo, Ribeirao Preto, Brazil.

Journal of the Peripheral Nervous System : JPNS
|July 17, 2026
PubMed
Summary

Late-onset Tay-Sachs disease (LOTS) can mimic the muscle MRI findings of spinal muscular atrophy (SMA). Recognizing these overlapping imaging features is crucial for accurate diagnosis and genetic testing in patients with lower motor neuron phenotypes.

Keywords:
HEXAlate‐onset Tay–Sachs diseasemuscle MRInon‐5q spinal muscular atrophyphenocopyspinal muscular atrophy with lower extremity predominance

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