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Oct 16

Research Bit: Selective vulnerability in frontotemporal dementia and ALS:emerging concepts

Research Bits
The Packard Center welcomed Bill Seeley from the University of California San Francisco to a recent Investigator's meeting.

Meeting Date: October 16, 2020

Presenter: Bill Seeley, MD

Talk Title: Selective vulnerability in frontotemporal dementia and ALS: emerging concepts


What was the question being asked?

For all the diseases related to frontotemporal dementia (FTD) and ALS, what are the initial types and location of cells that are affected, and how does the disease progress from these “epicenters” of disease?

Why is this important for ALS research?

While FTD and ALS were originally thought to be two completely distinct diseases, recent findings show that certain disease-linked mutations (such as the C9orf72 expansion) can cause one disease, the other, or both. Dr. Seeley has proposed that the difference between the two may lay in the type of neuron that is first affected by this mutation. If we can understand why some people with these mutations develop FTD, while others exhibit ALS symptoms, diagnosis (and appropriate treatment) may be much more rapid in the future.

What was the take-home message?

Dr. Seeley’s group have identified that Von Economo neurons (a specific type of neuron located within the frontal cortex) seem to be the first cells showing signs of disease in tissue from patients who have died of TDP-43-related degenerative disease, such as FTD and ALS. Importantly, they find that there are noticeable differences in these cells when comparing patients who had the C9orf72 mutation, and those who had a sporadic form of ALS. These differences provide unique insight into the fundamental distinction between inherited and sporadic neurodegenerative disease.

How do you think the results of this study might impact future approaches to the treatment of ALS?

This finding highlights the need to examine the type of neurons being analyzed during experiments. Not all neurons are the same, and Dr. Seeley’s work demonstrates that investigating specific subsets of neurons can provide valuable information about what drives disease onset and progression.


Prepared by:

Ben Zaepfel
Ph.D. Candidate | Rothstein Lab
Johns Hopkins University

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