Journal Article (Review Article)

DZNE-2026-00935

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Choosing the optimal mouse model for the study of late-onset spinal muscular atrophy: Why the 4-copy SMN2 model offers ideal translational relevance.

Leo, M. ; Schmitt, L.-I. ; Liebig, K. C. ; Hezel, S. ; Neuhoff, S. ; Roos, A. ; Kleinschnitz, C. ; Weiler, M. ; Günther, R.DZNE* ; Schara-Schmidt, U. ; Claus, P. ; Hagenacker, T.

2026
Sage London

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Please use a persistent id in citations: doi:10.1177/22143602251405151

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-Smn1tm1Hung 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.

Keyword(s): Animals (MeSH) ; Disease Models, Animal (MeSH) ; Muscular Atrophy, Spinal: physiopathology (MeSH) ; Muscular Atrophy, Spinal: genetics (MeSH) ; Muscular Atrophy, Spinal: pathology (MeSH) ; Survival of Motor Neuron 2 Protein: genetics (MeSH) ; Mice (MeSH) ; Mice, Transgenic (MeSH) ; Translational Research, Biomedical (MeSH) ; late-onset SMA ; mouse models of SMA ; new treatments in late-onset SMA ; sma type 3 ; translational research ; Survival of Motor Neuron 2 Protein ; SMN2 protein, mouse

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Contributing Institute(s):

1. Translational Parkinson Research (AG Falkenburger)

Research Program(s):

1. 353 - Clinical and Health Care Research (POF4-353) (POF4-353)

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Database coverage:
; Clarivate Analytics Master Journal List ; Current Contents - Clinical Medicine ; Essential Science Indicators ; IF < 5 ; JCR ; SCOPUS ; Science Citation Index Expanded ; Web of Science Core Collection

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