Snejana Jurici

TL;DR: The first phenotypical description of a case series of patients with idiopathic basal ganglia calcification since the identification of the first causative genes is provided, confirming that clinical and radiological diversity is confirmed, whatever the genetic status.

TL;DR: Despite different effect sizes and varying cumulative minor allele frequencies, the rare protein-truncating and missense-predicted damaging variants in TREM2, SORL1, and ABCA7 contribute similarly to the heritability of EOAD and explain between 1.1% and 1.5% of EAD heritability each.

TL;DR: The clinical phenotype of the three patients is functionally consistent with the regional pattern of lesions previously reported in mice overexpressing human tau, and it is not certain that this case corresponds to a FTLD with neuronal and glial tau inclusions (FTLD-tau), and it cannot exclude that any other gene included in the rearrangement might be responsible for the neurodegenerative process.

TL;DR: An SLC20A2-XPR1 interplay that depends on IPs such as PP-IPs and controls cellular phosphate homeostasis via the efflux route is unveiled, and alteration of this interplay likely contributes to PFBC.

TL;DR: The results do not support a pathogenic role of A βPP overexpression in sporadic AD although a small subset of patients displays AβPP overeexpression in the same range as Down syndrome patients.