Choosing the optimal mouse model for the study of late-onset spinal muscular atrophy: Why the 4-copy SMN2 model offers ideal translational relevance

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Authors: Markus Leo, Linda-Isabell Schmitt, Kai Christine Liebig, Stefanie Hezel, Svenja Neuhoff, A. Roos, Christoph Kleinschnitz, Markus Weiler, René Günther, Ulrike Schara, Peter Claus, Tim Hagenacker
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References: 37

Abstract

Spinal muscular atrophy (SMA) comprises a spectrum of clinical severities, yet the pathomechanisms of late-onset forms (Type III) remain insufficiently understood. While severe early-onset SMA has been extensively investigated using existing models, their translational relevance to adult disease is limited. Here, we recommend the 4-copy SMN2 mouse (FVB.Cg- Smn1 tm1Hung Tg( SMN2 )2Hung/J) as the most appropriate model for late-onset SMA. This model exhibits delayed onset, progressive motor dysfunction, and extended survival, enabling the study of chronic neurodegenerative processes, including astrocyte-mediated motor neuron pathology. Its prolonged therapeutic window makes the model suitable for mechanistic and translational investigations of late-onset SMA.

Fields of Study & Subjects

Neurogenetic and Muscular Disorders Research Amyotrophic Lateral Sclerosis Research Muscle Physiology and Disorders

Publication details

Journal / source
Journal of Neuromuscular Diseases
Volume
13
Issue
5
Pages
869–874
Publication date
16 January 2026
Language
EN