About 40% of people living with FTD have a family history of a neurodegenerative disease 90% chance of developing FTD People with theGRNgene mutation have a 90% chance of developing FTD by age 70. Discover more about FTD gene mutations ...
Cerebral organoids represent a promising tool for understanding human brain physiology and disease processes1. Their resemblance to the human cerebral cortex—in terms of their three-dimensional (3D) architecture, cell-type diversity and cell–cell interactions2,3—provides major advantages over other s...
In contrast, untreated symptomatic FTD-GRN patients typically experience increasing NfL levels, underscoring the potential of PBFT02 in slowing disease progression. As of December 2024, Passage Bio is progressing to evaluate a 50 percent lower Dose 2 in additional cohorts of FTD-GRN and FTD-C9orf7...
We suggest that a combination of upstream mechanisms involving both loss and gain of function and downstream cellular pathways involving both cell-autonomous and non-cell-autonomous effects contributes to disease progression. Key points Rapid progress has been made in the understanding of how repeat ...
White matter hyperintensity (WMH) can reflect neurovascular damage in vivo and typically appears in cerebral small vessel disease or hypertension [2]. WMH has primarily been reported in FTD patients who carried GRN mutations without vascular factors [3]. However, the WMH in sporadic FTD remains ...
In up to 31% of FTD cases, a family history is described, mostly associated with mutations in progranulin (GRN), C9ORF72, and microtubule-associated protein tau (MAPT) genes, with MAPT mutations responsible for 5-10% of all genetic cases of FTD [1]. The clinical phenotypes of MAPT ...
Frontotemporal dementia (FTD) is one of the most important neurodegenerative conditions and Granulin (GRN) is one of the major genes associated to the disease. FTD-GRN patients are still orphan for any evidence-based target-therapy approach. Interestingly, it has been recently found that ...
1. Overview and Causes of Frontotemporal Dementia (FTD) - What is FTD? Frontotemporal dementia (FTD) is a group of disorders resulting from progressive damage to the frontal and temporal lobes of the brain. Unlike Alzheimer's disease, which primarily affects memory, FTD mostly impairs behavior,...
Because these early disease phenotypes remain incompletely understood, we generated iPSC-derived cerebral organoid models from C9-ALS/FTD patients, presymptomatic C9ORF72-HRE (C9-HRE) carriers, and controls. Our work revealed the presence of all three C9-HRE-related molecular pathologies and ...
Before delving deeper into the role of neuroinflammation, we will first briefly outline the most important disease mechanisms at play in C9-ALS/FTD. Currently, there are three non-mutually exclusive hypotheses explaining the role ofC9orf72HREs in disease: (1) a loss-of-function mechanism with ...