Ferrucci, Michela

Fulceri, Federica

Paparelli, Antonio

Pasquali, Livia

Settimini, Leonardo

Xia, Feng

Firenze University Press: E-Journals

IJAE Vol. 115, n. 1/2 (Supplement), 2010
72
Validation of experimental models of spinal muscle 
atrophy (SMA): a neuroanatomical study
Federica Fulceri1, Livia Pasquali2, Leonardo Settimini1, Feng Xia1, Michela Ferrucci1, Antonio Paparelli1
1 Department of Human Morphology and Applied Biology, University of Pisa, Italy
2 Clinical Neurology, Department of Neurosciences, University of Pisa, Italy
Spinal muscular atrophy (SMA) is an autosomal recessive disorder characterized by 
degeneration of spinal cord motoneurons and it is associated with muscle paralysis and 
atrophy. Based on symptom onset and disease severity, SMA is classified in three sub-
type; type I (severe), type II (intermediate) and type III (mild). All of these are due to loss 
or mutation of the telomeric survival of motor neurons gene (SMN1). SMN1 is dupli-
cated with a highly homologous copy called SMN2 and both genes are transcribed. The 
pathophysiology of SMA remains unknown and no cure is available due to the paucity 
of reliable animal models. In this study we firstly characterized the anatomy and behav-
iour of a type III SMA mice. Our transgenic SMA model is characterized by the genotype 
Smn1 -/-, Smn2 +/+, Smn1A2G +/-. The motor test used are Rotarod test, the Paw Grip 
Endurance and the stride length test. All mice presented a progressive motor worsening 
evidenced by the rotarod test. 
Analysis of the spinal cord of Smn1 -/-, Smn2 +/+ e Smn1A2G +/-, at lumbar lev-
el, shows severe cell death involving motor neurons within the lamina IX. The size of 
spared motor neurons is augmented in SMA mice. 
We found that chronic autophagy stimulation delayed disease onset and progres-
sion. 
Key words
Neurodegeneration, spinal cord, spinal muscle atrophy, motorneuron, autophagy


Validation of experimental models of spinal muscle atrophy (SMA): a neuroanatomical study

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Validation of experimental models of spinal muscle atrophy (SMA): a neuroanatomical study

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