In FTDH patients, neuropsychiatric symptoms were more often present whereas apathy and disinhibition were more intense in FTDN patients. FTDH caregivers felt more emotionally burdened but had better mental health. Caregiver motivations were similarly present in FTDH and FTDN caregiv...
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 r...
A massive hexanucleotide repeat expansion mutation (HREM) in C9ORF72 has recently been linked to amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Here we describe the frequency, origin and stability of this mutation in ALS+/−FTD
In sporadic cases of tauopathies, the wild-type (WT) sequence of the microtubule-associated protein tau gene (MAPT) is linked to each disease. In the last 30 years, nearly 50 dementia-associated mutations have been identified in MAPT, linking the genetics of tau to a broader category of ...
Your soul allows you to reflect on your necessary needs and physical, emotional and mental health. How to Show Philautia: Create an environment that nurtures your well-being. Take care of yourself like a parent would care for a child. ...
The backbones of the core and loops are colored in black and red, respectively. C9orf72 HRE DNA/RNA can fold into G-quadruplex structures and form transcriptionally induced R-loops15,21,33. These structural polymorphisms lead to abortive transcripts, which may act as funda- mental determinants...