Publications by authors named "M Van den Broeck"
Article Synopsis
- The study investigates the role of the genetic variant rs1990622 as a potential modifier of disease risk in frontotemporal lobar degeneration (FTLD), particularly among those with pathogenic variants.
- Researchers enrolled participants from the ALLFTD study, analyzing the impact of rs1990622 on gray matter volume and cognitive function across various genetic groups related to FTD.
- Results indicate that carriers of the minor allele of rs1990622 show increased gray matter volume and better cognitive performance, especially in the thalamus and among presymptomatic individuals.
Article Synopsis
- The study investigates the effect of a specific genetic modifier on gray matter volume and cognitive function in patients with Frontotemporal Lobar Degeneration (FTLD), including both mutation carriers and sporadic cases.
- Participants were recruited from the ALLFTD study and were genotyped for the rs1990622 SNP to assess the relationship between this genetic variant and cognitive outcomes across different genetic groups.
- Findings indicate that the minor allele of rs1990622 is associated with increased gray matter volume and better cognitive scores in mutation carriers, especially affecting the thalamus, suggesting it may play a role in modifying the risk and impact of FTLD.
Transmembrane protein 106B (TMEM106B) is a tightly regulated glycoprotein predominantly localized to endosomes and lysosomes. Genetic studies have implicated TMEM106B haplotypes in the development of multiple neurodegenerative diseases with the strongest effect in frontotemporal lobar degeneration with TDP-43 pathology (FTLD-TDP), especially in progranulin (GRN) mutation carriers. Recently, cryo-electron microscopy studies showed that a C-terminal fragment (CTF) of TMEM106B (amino acid residues 120-254) forms amyloid fibrils in the brain of patients with FTLD-TDP, but also in brains with other neurodegenerative conditions and normal ageing brain.
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