The authors report no conflicts of interest.
Clinical and genetic heterogeneity of amyotrophic lateral sclerosis
Article first published online: 12 MAR 2013
© 2013 John Wiley & Sons A/S. Published by Blackwell Publishing Ltd
Volume 83, Issue 5, pages 408–416, May 2013
How to Cite
Clinical and genetic heterogeneity of amyotrophic lateral sclerosis., , .
- Issue published online: 5 APR 2013
- Article first published online: 12 MAR 2013
- Accepted manuscript online: 4 FEB 2013 02:06PM EST
- Manuscript Revised: 30 JAN 2013
- Manuscript Accepted: 30 JAN 2013
- Manuscript Received: 2 DEC 2012
- I.CO.M.M. Association
- F.I.G.C.(Italian Soccer Federation)
- amyotrophic lateral sclerosis;
- Mendelian genes;
Although clinical picture of amyotrophic lateral sclerosis (ALS) is a stereotypical one, resulting from combination of signs secondary to dysfunction of both upper motor neuron (UMN) and lower motor neuron (LMN), clinical heterogeneity is a consistent feature of the disease. Age of onset, relative mix of UMN and LMN signs, duration of the disease and association with other conditions are major factors contributing to variable clinical phenotypes. Genetically, familial forms of ALS are associated with a large number of pleiotropic genes whose mutations impair different biochemical pathways, resulting in overlapping clinical and pathological phenotypes. Over the last few years contribution of large- and low-effect genes to sporadic ALS is increasingly recognized.