Article
Update and Mutational Analysis of SLC20A2: A Major Cause of Primary Familial Brain Calcification.
Human mutation - 1 May 2015
Lemos Roberta R, Ramos Eliana M, Legati Andrea, Nicolas Gaël, Jenkinson Emma M, Livingston John H, Crow Yanick J, Campion Dominique, Coppola Giovanni, Oliveira João R M
Abstract excerpt
Primary familial brain calcification (PFBC) is a heterogeneous neuropsychiatric disorder, with affected individuals presenting a wide variety of motor and cognitive impairments, such as migraine, parkinsonism, psychosis, dementia, and mood swings. Calcifications are usually symmetrical, bilateral, and found predominantly in the basal ganglia, thalamus, and cerebellum. So far, variants in three genes have been...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.