{"id":364,"date":"2014-04-14T08:18:14","date_gmt":"2014-04-14T08:18:14","guid":{"rendered":"https:\/\/blogs.bmj.com\/jnnp\/?p=364"},"modified":"2014-04-14T08:18:43","modified_gmt":"2014-04-14T08:18:43","slug":"the-complexities-of-als-management-a-genetic-twist","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jnnp\/2014\/04\/14\/the-complexities-of-als-management-a-genetic-twist\/","title":{"rendered":"The complexities of ALS management: A genetic twist"},"content":{"rendered":"

Amyotrophic lateral sclerosis (ALS) is a rapidly progressive and devastating neurodegenerative disorder of the human motor neurons and the systems that supply it.\u00a0 Advances in the genetics of ALS have been staggering over the last two decades, although are we much the wiser?\u00a0 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.\u00a0 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.<\/p>\n

 <\/p>\n

As such, the management of ALS patients has become complicated.\u00a0 The question remains: “To test or not to test for a genetic mutation”.\u00a0 A myriad of ethical and other issues have been borne out with the explosion of the number of ALS genetic mutations.<\/p>\n

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)\u00a0 highlights the poor phenotype\/genotype correlation, phenotype pleiotropy and the psychological, social and ethical implications of genetic testing.<\/p>\n

 <\/p>\n

READ MORE AT :\u00a0 http:\/\/jnnp.bmj.com\/content\/85\/5\/478.abstract<\/p>\n

J Neurol Neurosurg Psychiatry<\/abbr> <\/span> 2014;<\/span>85:<\/span><\/span>478-485 <\/span> doi:10.1136\/jnnp-2013-305546 <\/span> <\/cite><\/div>\n