Amyotrophic lateral sclerosis (ALS) is a rapidly progressive and devastating neurodegenerative disorder of the human motor neurons and the systems that supply it.  Advances in the genetics of ALS have been staggering over the last two decades, although are we much the wiser?  The presence of a specific ALS genetic mutation may predispose a family member to develop ALS, although the age of onset, or indeed whether one will express the phenotype remains uncertain.  factors other than inherited genetic mutations appear to trigger the process since a patient “carrier” live with the genetic mutation for 30, 40, 50 or even more years with a seemingly devastating genetic mutation.

As such, the management of ALS patients has become complicated.  The question remains: “To test or not to test for a genetic mutation”.  A myriad of ethical and other issues have been borne out with the explosion of the number of ALS genetic mutations.

In this issue of JNNP (may 2014), Chio and colleagues write a very important reviewed discussing these issues. This must read review for all ALS physicians (neurologists, geneticist etc)  highlights the poor phenotype/genotype correlation, phenotype pleiotropy and the psychological, social and ethical implications of genetic testing.

READ MORE AT :  http://jnnp.bmj.com/content/85/5/478.abstract

• Neurogenetics

• Review

Genetic counselling in ALS: facts, uncertainties and clinical suggestions

1. Adriano Chiò1,
2. Stefania Battistini2,
3. Andrea Calvo1,
4. Claudia Caponnetto3,
5. Francesca L Conforti4,
6. Massimo Corbo5,
7. Fabio Giannini2,
8. Jessica Mandrioli6,
9. Gabriele Mora7,
10. Mario Sabatelli8,
11. the ITALSGEN Consortium,
12. Clara Ajmone5,
13. Enza Mastro1,
14. Debora Pain7,
15. Paola Mandich3,
16. Silvana Penco9,
17. Gabriella Restagno10,
18. Marcella Zollino11,
19. Antonella Surbone12