Over 8,000 attendees gathered in-person at the Pennsylvania Convention Center for the 2024 Alzheimer’s Association International Conference (AAIC) from July 28th – August 1st. Researchers from the Penn Frontotemporal Degeneration Center (Penn FTD Center) had a strong presence at the largest dementia conference in the world. AAIC shared work that spanned over multiple modalities, including fluid biomarkers, genetics, epigenetics, transcriptomics, social determinants of health, neuroimaging, digital speech and neuropsychology. Several neurodegenerative diseases and neuropathologies were discussed by researchers, scientists and clinicians including Alzheimer’s disease (AD), behavioral-variant frontotemporal degeneration (bvFTD), amyotrophic lateral sclerosis (ALS), autopsy-confirmed frontotemporal lobar degeneration (FTLD), and primary age-related tauopathy (PART).
Penn FTD Center researchers shared presentations or posters on their work involving multi-omic approaches to understand the molecular contributions to FTD, from genetic variations to changes in protein levels. Researchers, including those from the Penn Bioinformatics in Neurodegenerative Disease lab, led by Penn FTD Center Co-Director Dr. Corey McMillan presented on these topics:
Dr. Katheryn Cousins, Research Assistant Professor, presented work comparing plasma biomarkers (specifically p-tau217 and Aβ42/Aβ40) by race to detect AD along with two posters related to advances in fluid biomarkers
Dr. Barbara Spencer presented a poster demonstrating that C9orf72 repeat expansions increase risk for secondary motor and cognitive-behavioral symptoms in bvFTD and ALS
To read more about this work, click here
Laynie Dratch, SCM CGC, presented a poster demonstrating that the likelihood of a genetic diagnosis in FTD is higher with stronger family history, and that this can be enhanced by screening for genetic variants in addition to those related to C9orf72, MAPT and GRN
Dr. Nadia Dehghani presented findings on how a polygenic score for executive function correlates with differential rates of cognitive decline in bvFTD
Dr. Ting Shen presented work on her efforts to unravel temporal transcription dynamics of molecular FTD and ALS subtypes
Dr. Anil Wadhwani, Instructor and recent Marc Dichter Translational Research Awardee, presented collaborative explorations of epigenetic profiles in AD and PART
Lasya Sreepada, BSc, presented work demonstrating an association between biological age, computed based on epigenetic marks, and atypical patterns of neurodegeneration in AD
See Lasya’s profile here
Dr. Rory Boyle presented work showing that greater neighborhood deprivation is related to shorter survival in bvFTD
To read more about Dr. Boyle’s recently awarded pilot grant from the Penn Population Aging Research Center to expand this work and integrate epigenetics, click here
Through participation in observational research and/or clinical trials, patients and caregivers will be uniquely familiar with both neuroimaging activities and neuropsychological evaluations. Using imaging data, Dr. Jeff Phillips presented recently published work demonstrating greater white matter degeneration and lower structural connectivity in non-amnestic AD (not affecting memory) compared to amnestic AD. To read this recently published work, click here. Dr. Chris Brown shared his hypothesis-driven PET and MRI approach investigating the spread of tau pathology. Dr. Melanie Matyi also presented two posters, the first demonstrated that structural desegregation of the salience network is associated with executive functioning deficits in bvFTD and the second evaluated neuropsychological test performance between minoritized and White individuals with FTD. The latter work was in collaboration with Dr. Emma Rhodes, Assistant Professor and neuropsychologist. Dr. Rhodes separately shared recent work on how longitudinal variability in resting heart rate associates with empathy decline in pre-symptomatic and symptomatic familial FTD. To read more about Dr. Rhodes’ research, click here. Lauren Fisher, BA, BSN, mentored by Penn FTD Center Co-Director Dr. Lauren Massimo, presented work on evaluating the impact of empathy loss on caregiver burden in bvFTD.
Another key research focus relates to distinguishing FTLD-Tau from FTLD-TDP-43. These are two distinct neuropathological presentations of clinical bvFTD. The Penn Digital Neuropathology lab is led by Penn FTD Center Co-Director Dr. David Irwin. Numerous researchers at the Penn FTDC presented their findings towards better understanding the underlying mechanisms, including:
Dr. Hamsi Radhakrishnan presented on white matter microstructure
Dr. Daniel Ohm investigated distinct laminar networks of neuronal covariance
Dr. Sheina Emrani examined patterns of iron-rich gliosis
Former postdoctoral researchers of the Penn FTD Center also participated in AAIC to share their work. Research by Dr. Sanaz Arezoumandan on automated neurofibrillary tangle detection in digital histopathology brain sections was proudly shared by Eric Teunissen-Bermeo, a co-author and fellow lab member. Dr. Arezoumandan is presently completing their neurology residency at Cleveland Clinic Florida. Dr. Jesse Cohen returned to Philadelphia to share their findings that microstructural changes in the inferior tubular hypothalamus correlate with daytime sleepiness in Lewy body dementia. Dr. Cohen recently accepted a position as Assistant Professor at the University of Florida. Dr. Sanjana Shellikeri and Dr. Galit Agmon, currently an Assistant Professor at Tel Aviv University, presented work on efforts towards quantifying digital speech measures across ALS-FTD spectrum disorders and primary progressive aphasia, respectively. Dr. Shellikeri and Dr. Agmon’s work was mentored by Dr. Naomi Nevler.
The Penn FTD Center researchers thank the Alzheimer's Association for hosting AAIC and giving researchers, scientists, clinicians and caregivers the opportunity to contribute to this important work. Advances continue to be made to better understand frontotemporal degeneration and related disorders. More work from the Penn FTD Center will be shared at the 2024 International Society for Frontotemporal Dementias meeting in September. Until then, we are back to work!
~ Nadia Dehghani, Postdoctoral Researcher
