# Clinical Core

> **NIH NIH P01** · UNIVERSITY OF PENNSYLVANIA · 2020 · $283,343

## Abstract

CLINICAL CORE: Project Summary/Abstract
Frontotemporal lobar degeneration (FTLD) is a young-onset neurodegenerative condition. The major
pathologies causing FTLD include misfolded forms of tau known as FTLD-Tau, TDP-43 proteinopathy known
as FTLD-TDP, and other very rare FTLD variants. It is crucial to find features identifying these pathologic forms
of FTLD during life to develop reliable diagnostic markers and establish eligibility for disease-modifying therapy
trials. Mutations associated with these pathologies are found in 15% of cases. The vast majority of FTLD
patients have sporadic disease, but clinical features do not reliably predict FTLD-Tau or FTLD-TDP
histopathology, and up to 25% of patients who present with clinical frontotemporal degeneration (FTD) are
atypical forms of autopsy-confirmed Alzheimer’s disease (AD). It is thus necessary to collect additional data
that reflect the pathologic form of FTLD during life more accurately. This includes clinical, neuropsychological,
neuroimaging, genetic markers including single nucleotide polymorphisms (SNPs), and cerebrospinal fluid
(CSF) biomarkers. Moreover, disease-modifying treatment trials require well-characterized natural histories of
FTLD-related phenotypes to identify markers of a beneficial treatment response. The Clinical Core will work
with other cores and projects of this Program Project Grant (PPG) to improve our understanding of disease
mechanisms. To this end, we will continue to recruit patients with sporadic clinical FTD who have a high
likelihood of having FTLD spectrum pathology, and asymptomatic and symptomatic carriers of mutations
associated with FTLD. We will collect multimodal data to help identify the specific form of FTLD pathology to
improve diagnostic accuracy in sporadic cases and characterize longitudinal progression, and we will recruit
these patients for autopsy. We propose four Specific Aims to achieve these goals.

## Key facts

- **NIH application ID:** 9891006
- **Project number:** 5P01AG017586-20
- **Recipient organization:** UNIVERSITY OF PENNSYLVANIA
- **Principal Investigator:** MURRAY GROSSMAN
- **Activity code:** P01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $283,343
- **Award type:** 5
- **Project period:** — → 2022-02-28

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/9891006

## Citation

> US National Institutes of Health, RePORTER application 9891006, Clinical Core (5P01AG017586-20). Retrieved via AI Analytics 2026-05-24 from https://api.ai-analytics.org/grant/nih/9891006. Licensed CC0.

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