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

Year: 2026

Type: article

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.

Source: Journal of Neuromuscular Diseases

DOI: 10.1177/22143602251405151

Authors: Markus Leo, Linda-Isabell Schmitt, Kai Christine Liebig, Stefanie Hezel, Svenja Neuhoff, Andreas Roos, Christoph Kleinschnitz, Markus Weiler, Rene Günther, Ulrike Schara-Schmidt, Peter Claus, Tim Hagenacker

Institutions: Stiftung Universitätsmedizin Essen, University of Duisburg-Essen, University Hospital Heidelberg, University Hospital Carl Gustav Carus, German Center for Neurodegenerative Diseases (DZNE) Dresden, Medizinische Hochschule Hannover

Language: English

Topic: Neurogenetic and Muscular Disorders Research

Subfield: Genetics

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: hybrid

OpenAlex ID: W7124456337

FWCI:

Cites: 37

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