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Human Molecular Genetics Advance Access published online on September 12, 2007
Human Molecular Genetics, doi:10.1093/hmg/ddm251
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© 2007 The Author(s)
This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/2.0/uk/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Distal axonopathy in an alsin-deficient mouse model

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

* Correspondence should be addressed to HXD (h-deng{at}northwestern.edu) or TS (t-siddique{at}northwestern.edu) Tel: (312) 503-4737 Fax: (312) 908-0865

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 the 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.


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