Novel findings in a Swedish primary familial brain calcification cohort

Brain calcifications are frequent findings on imaging. In a small proportion of cases, these calcifications are associated with pathogenic gene variants, hence termed familial brain calcification (PFBC). The clinical penetrance is incomplete and phenotypic variability is substantial. This paper aims to characterize a Swedish PFBC cohort including 25 patients: 20 from seven families and five sporadic cases.

Source: Journal of the Neurological Sciences - April 17, 2024 Category: Neurology Authors: Stefan Sennf ält, Peter Gustavsson, Helena Malmgren, Eric Gilland, Håkan Almqvist, Mikael Oscarson, Martin Engvall, Ingemar Björkhem, Daniel Nilsson, Kristina Lagerstedt-Robinson, Per Svenningsson, Martin Paucar Source Type: research