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5 min readALS: Unraveling the Mystery
Mark Hopkins was 43 years old when he learned he carried the genetic mutation that killed his father, his uncle, and his great-uncle. All three men died of amyotrophic lateral sclerosis, or ALS—a terminal neurodegenerative disease that destroys the motor neurons controlling voluntary movement. Mark's father died eleven months after diagnosis, in 2007. For sixteen years afterward, Mark lived with a 50 percent chance of having inherited the same mutation, but no way to know which side of the coin flip he was on. Then in 2023, after attending a webinar about recent advances in ALS research—advances made possible partly by the Ice Bucket Challenge—he asked for a referral to a genetics clinic. They retested his father's DNA and found the culprit: a mutation in the C9orf72 gene. Mark opted for predictive testing. The results came sealed in an envelope. When it was opened, he learned he had inherited the mutation. As he put it, "I'm not sick or dying, not yet. Not even showing symptoms. It's like I have a foggy crystal ball."
The Two-Neuron System That Fails in ALS
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What you'll learn
- 1 (00:06) **A Personal Story: Mark Hopkins on His Family's History with ALS** - Mark introduces himself and shares the devastating history of ALS in his family, including his great uncle, uncle, and father.
- 2 (02:16) **Predictive Testing: The "Twisted Game Show" of Genetics** - Sixteen years later, Mark learns about advances in ALS genetics and undergoes predictive testing for the C9orf72 gene mutation.
- 3 (04:14) **Living with the Knowledge: A "Foggy Crystal Ball"** - Mark explains the implications of his positive test result, including his risk for both ALS and frontotemporal dementia (FTD).
- 4 (06:19) **Introduction to the Episode** - The hosts, Erin and Erin, formally introduce the topic of ALS and its various names (Lou Gehrig's disease, Charcot's disease, motor neuron disease).
- 5 (11:54) **ALS: A Clinical Diagnosis with an Open Question** - The hosts discuss the fundamental nature of ALS, questioning whether it is one disease or many.
- 6 (14:00) **Anatomy of ALS: Upper and Lower Motor Neurons** - A detailed breakdown of the two sets of motor neurons and the distinct symptoms caused by their degeneration.
- 7 (22:24) **Spinal vs. Bulbar Onset: Two Paths of Progression** - The hosts differentiate between the two most common ways ALS first presents in patients.
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Show Notes
Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig’s disease, has long mystified the medical community and brought tremendous sorrow to those impacted by the condition. But to tell the story of ALS as one solely of tragedy would do a disservice to those who have long fought to develop an effective treatment or raise awareness. Because it is through their tireless efforts that those with ALS will eventually be able to rewrite their own ending. In today’s episode, we attempt to convey the full picture of ALS: from what we know about its causes to the earliest medical descriptions, from the baseball player whose impassioned speech captured the public’s hearts to the promising research on the horizon. Tune in for all this and more.
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