Article
First report of a de novo mutation at SLC20A2 in a patient with brain calcification.
Journal of molecular neuroscience : MN - 1 Dec 2014
Ferreira J B, Pimentel L, Keasey M P, Lemos R R, Santos L M, Oliveira M F, Santos S, Jensen N, Teixeira K, Pedersen L, Rocha C R, Dias da Silva M R, Oliveira J R M
Abstract excerpt
Primary familial brain calcification (PFBC) is identified by mineralization of the basal ganglia and other brain regions in the absence of known causes. The condition is often inherited in an autosomal dominant pattern and can manifest itself clinically with neuropsychiatric symptoms such as Parkinsonism, headaches, psychosis, and mood swings. Mutations in the SLC20A2 gene account for ~40% of inherited cases, and...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.