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. 2007 Dec 1;16(23):2911-20.
doi: 10.1093/hmg/ddm251. Epub 2007 Sep 12.

Distal axonopathy in an alsin-deficient mouse model

Han-Xiang Deng  1 , Hong Zhai, Ronggen Fu, Yong Shi, George H Gorrie, Yi Yang, Erdong Liu, Mauro C Dal Canto, Enrico Mugnaini, Teepu Siddique
Affiliations

Distal axonopathy in an alsin-deficient mouse model

Han-Xiang Deng et al. Hum Mol Genet. .

Abstract

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.

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