Journal Article

Distal axonopathy in an alsin-deficient mouse model<sup>†</sup>

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

in Human Molecular Genetics

Volume 16, issue 23, pages 2911-2920
Published in print December 2007 | ISSN: 0964-6906
Published online September 2007 | e-ISSN: 1460-2083 | DOI:
Distal axonopathy in an alsin-deficient mouse model†

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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.

Journal Article.  6655 words.  Illustrated.

Subjects: Genetics and Genomics

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