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 language | English (US) |
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Pages (from-to) | 2911-2920 |
Number of pages | 10 |
Journal | Human molecular genetics |
Volume | 16 |
Issue number | 23 |
DOIs | |
State | Published - Dec 1 2007 |
ASJC Scopus subject areas
- Genetics(clinical)
- Genetics
- Molecular Biology