Familial Brain Calcifications With Leukoencephalopathy
Sign Up to like & getrecommendations! Published in 2022 at "Neurology: Genetics"
DOI: 10.1212/nxg.0000000000200001
Abstract: Objective To describe a family with primary familial brain calcifications (PFBCs) and leukoencephalopathy associated with a novel variant in PDGFB. Methods We present 3 generations of a family with PFBC associated with a previously unreported… read more here.
Keywords: calcifications leukoencephalopathy; basal ganglia; familial brain; brain calcifications ... See more keywords
Brain Calcifications: Genetic, Molecular, and Clinical Aspects
Sign Up to like & getrecommendations! Published in 2023 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms24108995
Abstract: Many conditions can present with accumulation of calcium in the brain and manifest with a variety of neurological symptoms. Brain calcifications can be primary (idiopathic or genetic) or secondary to various pathological conditions (e.g., calcium–phosphate… read more here.
Keywords: aspects brain; genetic molecular; brain; clinical aspects ... See more keywords