| Pubmed | emedicine | OMIM | NORD | Web | Ggl Images | Yho Images | Videos |

amyotrophic lateral sclerosis

 
Amyotrophic lateral sclerosis (ALS) is a fatal adult-onset disease in which motor neurons in the brain and spinal cord degenerate by largely unknown mechanisms. ALS is familial (FALS) in 10% of cases, and the inheritance is usually dominant, with variable penetrance. Mutations in copper/zinc super oxide dismutase (SOD1) are found in 20% of familial and 3% of sporadic ALS cases.

Etiology of familial ALS

-  mutations in cytosolic Cu/Zn superoxide dismutase (SOD1) (25% of familial ALS)
-  16q12.1-16q12.2 locus (#12858291#, #12840784#, #12830400#)
-  ALS8 locus at 20q13.3: germline mutations in the VAPB gene coding for vesicle-associated membrane protein/synaptobrevin-associated membrane protein B (VAPB) (#15372378#, #12858291#)

References

-  Bendotti C, Carri MT. Lessons from models of SOD1-linked familial ALS. Trends Mol Med. 2004 Aug;10(8):393-400. PMID: #15310460#

-  Newbery HJ, Abbott CM. Of mice, men and motor neurons. Trends Mol Med. 2002 Feb;8(2):88-92. PMID: #11815275#

-  Siddique T, Deng HX. Genetics of amyotrophic lateral sclerosis. Hum Mol Genet. 1996;5 Spec No:1465-70. PMID: #8875253#



Forum de l'article

Contact us at humpath2004@yahoo.ca if you want to be the curator of this page or this section.
Copyright www.humpath.com