Pushing Back the Timeline

An extended family in Colombia has a gene mutation which leads to Alzheimer's by the time individuals are in their mid-40's.  The extended family consists of about 5,000 members in 25 familial groups who share a common ancestor who introduced the mutated gene into the mix.  The mutation is known as the Paisa Mutation.  Because of this family, the timeline for identifying changes in the brains of individuals who will develop Alzheimer's disease has been pushed back a bit further.  A year ago, scientists announced they could identify changes in the brains 10 to 15 years before the onset of recognizable symptoms.  Now, changes have been found in this family as many as 20 years prior to the on-set of symptoms.

Current thinking is that the earlier you start treating for Alzheimer's the better chance you have of slowing the progression of the disease.  If an individual is carrying a mutation that leads to Alzheimer's this knowledge may help them receive treatment as early as possible.  One of he problems is identifying who should be tested to see if they have such a mutation.  In the Colombian family, it is pretty obvious that they would all need to be tested.  However, if you haven't had or know of a history of familial Alzheimer's, you might never consider getting tested and treated as a young adult.

Comments

  1. While I am opposed to meds for your sister, taking them long before symptoms appear would be helpful. By the time symptoms appear the disease is very progressed.

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