| First Author | Deng HX | Year | 2007 |
| Journal | Hum Mol Genet | Volume | 16 |
| Issue | 23 | Pages | 2911-20 |
| PubMed ID | 17855450 | Mgi Jnum | J:129939 |
| Mgi Id | MGI:3770470 | Doi | 10.1093/hmg/ddm251 |
| Citation | Deng HX, et al. (2007) Distal axonopathy in an alsin-deficient mouse model. Hum Mol Genet 16(23):2911-20 |
| abstractText | 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. |
