Peter Munch Andersen
Umeå University
Sweden
The Genetics of ALS and related Neurodegenerative Syndromes: Finding the Genes.
The Swedish Brain Foundation
435,256
01/07/2013
3.5
I. ALS is caused by mutations in a few major genes and many minor genes.
II. Many cases of apparently sporadic ALS are caused by mutations in familial ALS genes with low disease penetrance, or oligogenetic inherintance, influenced by embryonal, enviromental factors and/or stochastics.
III. ALS is not restricted to the motor system. Rather, ALS is a systemic degenerative syndrome affecting many parts of the nervous system with predilection for the motor systems.
IV. All identified ALS genes are pleiotropic and are associated with reduced disease penetrance, suggesting that the final clinical phenotype in patients is influenced by non-genetic factors. This opens upp an opportunity for possible therapeutic interventions.