Distal axonopathy in an alsin-deficient mouse model

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

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

40 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)2911-2920
Number of pages10
JournalHuman molecular genetics
Volume16
Issue number23
DOIs
StatePublished - Dec 1 2007

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

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