Understanding ALS & FTD with Corey McMillan, PhD
Sitting down with Dr. Corey McMillan of (you guessed it..) the Penn FTD center as he explained the correlation between FTD and ALS was nothing short of fascinating.
Being third Co-Director of the UPenn FTD Center, Corey’s lab “aims to develop robust biomarkers that can be used to better diagnose neurodegenerative diseases, accelerate drug discovery of disease-modifying agents, and to define essential clinical trial endpoint measures.”
As we started this recording, I tried my best to focus on absorbing all this information so I could best relay it here, on the blog. But, man oh man, it’s a lot of science, so bear with me, guys.
We’ll start by introducing what ALS is. Amyotrophic Lateral Sclerosis or ALS is defined by the AFTD as “death of motor neurons, nerve cells that control voluntary muscles.” Moreover, ALS is noted to be another type of neurodegenerative disease with loss of upper and lower motor neurons. Corey points out here that you need both upper (the brain) and lower (spinal cord) to both be affected to get an accurate diagnosis for ALS. With both upper and lower neurons being altered, symptoms of paralysis, dysphagia (trouble swallowing), dysarthria (difficulty speaking/slurred speech), muscle spasms, and overall loss of control of limbs (arms + hands/legs + feet) are generally present. Similar to FTD, symptoms typically start between 40 and 70 years old with an average age of 55 at diagnosis.
But why is this important to know for FTD patients and Families? Great question.
Dr. McMillan shares that the known link was discovered back in 2007 and there is a direct link between the type of pathology, its distribution in the different areas of the brain and the clinical symptoms. So, although ALS is generally manifested through the neuromuscular lens and FTD is seen through more of a cognitive interpretation – they share the same pathology and some of the same genetic mutations. However, states Corey, about 99% of individuals that have ALS have the TDP43 mutation while 80% of people with ALS and FTD have the C9orf mutation. Dr. McMillan continues to provide more statistical data explaining that 10% of individuals have a “frank” form of ALS + FTD while 25% of individuals affected have a prodromal presentation where it’s extremely mixed.
“Someone presenting at clinic with a diagnosis of FTD does not automatically receive testing for ALS”, Dr. McMillan explains. The two diseases can affect an individual alone, or they can both be present. Dr. McMillan then shares the 3.5-year rule. “If your loved one doesn’t have ALS-like symptoms after about the 3.5-year mark, they likely won’t develop ALS during their personal FTD disease trajectory.” He continues to reassure us (and you!) that a person needs to be actively displaying indications that ALS could be present to do further testing.
Dr. McMillan expresses his ambition to bring both of these neurological diseases together stating that there will be more movement “if these two communities (FTD + ALS) work together instead of in silos.” Dr. McMillan also highly encourages families to share their stories as often as possible as it allows the scientists and the doctors to think outside the box. His work at Upenn is that of bridging the gap between the two communities while pushing research and funding forward.
Corey also explains that his approach to understanding these complex diseases is also trying to understand how to combat them. Dr. McMillan expresses his number one defense, a healthy lifestyle consisting of a good diet, a fair amount of exercise and using your brain often. Corey also highlights the importance of education about your own risk factors for potentially developing symptoms.
Dr. McMillan, like the rest of the Penn Team, understands the tragedy that both of these diseases bring to families and caregivers and he has dedicated his life to help.
How lucky we are all to have this “team of angels” in our corner fighting for our people.
Maria and her mom, Lia.
ALS and FTD is one specific type of frontotemporal degeneration (FTD). You can learn more about the types of FTD here: https://www.theaftd.org/what-is-ftd/disease-overview/
ALS is the progressive loss of motor neurons leading to the loss of muscle control, paralysis, trouble swallowing, difficulty speaking and respiratory failure.
ALS and FTD can occur together in some cases due to shared pathology and shared genetic variants (Genes that Cause FTD)
Researchers are actively working to better understand the connections between these neurological diseases
Up to half of people diagnosed with ALS will present with behavioral or language changes similar to FTD. 30% of those with FTD will develop motor symptoms consistent with ALS.
ALS and FTD can present in different ways within the same family with a genetic variant. Members of the same family may present with symptoms of just ALS, or just FTD, or with combinations of ALS and FTD symptoms.
A person diagnosed with FTD does not need to be routinely tested for ALS, unless they are presenting with indications of ALS symptoms
Sharing your story is a crucial way to advance awareness and understanding of this diagnosis
Researchers are developing treatments that target specific FTD-causing genes. People with variants in specific genes are uniquely eligible for many of the clinical trials in development.
Resources from AFTD
Find a helpful overview of ALS and FTD on AFTD’s website here: https://www.theaftd.org/what-is-ftd/ftd-and-als-ftd-als/
AFTD offers a national support group specifically for primary care partners of a person with ALS and FTD. To find out more, reach out to the AFTD HelpLine 866-507-7222, info@theaftd.org
AFTD issue of Partners in FTD Care An Evolving Understanding of ALS with FTD
Webinar: Bringing the FTD/ALS Clinical Experience into Focus
For information on clinical trials in FTD and ALS visit and join the FTD Disorders Registry
