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Human Molecular Genetics Advance Access originally published online on September 12, 2007
Human Molecular Genetics 2007 16(23):2911-2920; doi:10.1093/hmg/ddm251
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© The Author 2007. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

Distal axonopathy in an alsin-deficient mouse model{dagger}

Han-Xiang Deng1,*, Hong Zhai1, Ronggen Fu1, Yong Shi1, George H. Gorrie1, Yi Yang1, Erdong Liu1, Mauro C. Dal Canto2, Enrico Mugnaini3 and Teepu Siddique1,3,4

1 Davee Department of Neurology and Clinical Neurosciences 2 Department of Pathology, Division of Neuropathology 3 Northwestern University Institute for Neuroscience, Northwestern University Feinberg School of Medicine 4 Department of Cell and Molecular Biology, Tarry Building, Room 13-715, 303 East Chicago Avenue, Chicago, IL 60611, USA

* To whom correspondence should be addressed. Tel: +1 3125034737; Fax: +1 3129080865; Email: h-deng{at}northwestern.edu

Received July 12, 2007; Revised August 20, 2007; Accepted August 28, 2007

Mutations in Alsin are associated with chronic juvenile amyotrophic lateral sclerosis (ALS2), juvenile primary lateral sclerosis and infantile-onset ascending spastic paralysis. The primary pathology and pathogenic mechanism of the disease remain largely unknown. Here we show that alsin-deficient mice have motor impairment and degenerative pathology in the distal corticospinal tracts without apparent motor neuron pathology. Our data suggest that ALS2 is predominantly a distal axonopathy, rather than a neuronopathy in the central nervous system of the mouse model, implying that alsin plays an important role in maintaining the integrity of the corticospinal axons.

{dagger} T.S. and H.-X.D. conceived this project; H.-X.D., H.Z. and R.F. developed the alsin knockout mice and performed genetic analysis; H.-X.D., H.Z., Y.S. and G.H.G. performed immunohistochemistry and confocal microscopy; Y.S. and Y.Y did biochemical analysis; R.F. did Rotarod test; M.C.D.C., E.M., E.L., H.-X.D. and T.S. did pathological analysis; H.-X.D., Y.S. and G.H.G prepared the figures; H.-X.D., E.M. and T.S. analyzed data and wrote the paper.


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