Amyotrophic lateral sclerosis: from Charcot to cutting edge molecular genetics

For most clinicians, having to tell a patient that they have motor neuron disease/amyotrophic lateral sclerosis (ALS) is a difficult and challenging dilemma. In the community, it is one of the few remaining conditions that are inseparably linked with severe physical disability resulting in loss of independence and eventually loss of life. On a more optimistic note, the pace of research in this field provides hope for a cure or at the least for treatments that may slow the progression of the condition.

ALS was first described by Jean-Martin Charcot, the father of modern Neurology and in the current issue of JNNP, Turner and Swash http://jnnp.bmj.com/content/86/6/667.abstract chart the historical journey that commenced with Charcot’s initial descriptions of the condition, which largely remain true and accurate to the present day. In addition, the authors have also managed to provide a state-of-the-art review of where we are at in terms of genetic contributions to this condition and provide a thorough analysis on the potential cause of ALS.

In addition to the obvious question of who is likely to develop ALS, they also touch on another intriguing question of whether there are individuals who are likely to never develop ALS.

In short, this is a highly recommended review.

  • Rick

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