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The Genetics of Primary Familial Brain Calcifications
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Journal Article
The Genetics of Primary Familial Brain Calcifications
2014
Overview
Bilateral accumulation of calcium in the brain, most commonly in the basal ganglia, but also in the cerebellum, thalamus, and brainstem can be inherited in an autosomal dominant fashion and is then referred to as primary familial brain calcifications (PFBC). Clinical manifestations include a spectrum of movement disorders and neuropsychiatric abnormalities. In the past 2 years, 3 genes have been identified to cause PFBC, (ie,
SLC20A2
,
PDGFRB
, and
PDGFB
).
SCL20A2
encodes the Type III sodium-dependent inorganic phosphate (Pi) transporter 2 (PiT2) and, when mutated, uptake of Pi is severely impaired likely causing buildup of calcium phosphate. The second identified cause of PFBC is mutations in
PDGFRB
, which codes for platelet-derived growth factor receptor β (PDGF-Rβ). Interestingly, the third PFBC gene is
PDGFB
that encodes the ligand of PDGF-Rβ, which is secreted during angiogenesis to recruit pericytes, thereby implying impairment of the blood-brain barrier as a disease mechanism of PFBC.
Publisher
Springer US,Springer Nature B.V
Subject
/ Blood-Brain Barrier - pathology
/ Genes
/ Genetic Predisposition to Disease - genetics
/ Genetics
/ Genomes
/ Humans
/ Medicine
/ Mutation
/ Proto-Oncogene Proteins c-sis - genetics
/ Receptor, Platelet-Derived Growth Factor beta - genetics
/ Sodium-Phosphate Cotransporter Proteins, Type III - genetics
