Update and Mutational Analysis of SLC20A2: A Major Cause of Primary Familial Brain Calcification.

@article{Lemos2015UpdateAM,
  title={Update and Mutational Analysis of SLC20A2: A Major Cause of Primary Familial Brain Calcification.},
  author={Roberta Rodrigues de Lemos and Eliana Marisa Ramos and Andrea Legati and Ga{\"e}l Nicolas and E M Jenkinson and John H Livingston and Yanick J Crow and Dominique Campion and Giovanni Coppola and Jo{\~a}o Ricardo M. Oliveira},
  journal={Human mutation},
  year={2015},
  volume={36 5},
  pages={489-95}
}
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 linked to PFBC: SLC20A2, PDGFRB, and PDGFB. Variants in SLC20A2 are responsible for… CONTINUE READING
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