Research Roundup - October 2025
- Penn FTD Center
- 1 day ago
- 1 min read
Read the below Research Roundup from Penn FTD Center Postdoctoral Fellow Barbara Spencer, PhD.
Terms to Know:
Amyotrophic lateral sclerosis (ALS) – a neurodegenerative disease that causes motor symptoms such as muscle weakness and paralysis.
Frontotemporal degeneration (FTD) – a neurodegenerative disease that causes cognitive and behavioral changes such as executive dysfunction, apathy, and speech/language impairment.
C9orf72 repeat expansion – a genetic mutation that can cause FTD, ALS, or both.
What we knew:
FTD and ALS occur along a spectrum of cognitive-behavioral and motor impairments. Overlap between FTD and ALS can occur, and the presence of subsequent features (i.e. motor impairment in an individual with FTD or cognitive-behavioral impairment in an individual with ALS) is associated with shorter survival.
What we didn’t know:
Understanding the risk of subsequent features within FTD and ALS is critical, yet factors influencing the risk of subsequent feature development remain largely unexplored.
What this research/study shows:
We found that individuals with a C9orf72 expansion have a higher risk for developing subsequent features compared to individuals without that genetic mutation. In our sample, a person with a C9orf72 expansion had a 13% probability of developing subsequent features at 1.5 years and up to 50% at 14 years after the onset of their symptoms.
What to do with this information:
We believe clinical care for individuals with a C9orf72 expansion can be enhanced through coordination between cognitive and neuromuscular clinics. This research may also be helpful for patients and families in terms of prognosis and understanding the implications of a C9orf72 expansion in their family.
More information:
