Knowra Primary familial brain calcification Primary familial brain calcification Primary familial brain calcification is an inherited neurological disorder involving bilateral calcium deposits in the brain, especially the basal ganglia, with variable movement, cognitive, or psychiatric symptoms.
SLC20A2 : SLC20A2 is a gene encoding PiT-2, a membrane transporter that moves inorganic phosphate into cells. Variants in this gene are the most frequent known cause of primary familial brain calcification.
Basal ganglia : The basal ganglia are interconnected deep-brain nuclei involved in movement, learning, and action selection. They are among the most characteristic sites of calcium deposition.
Differential diagnosis : Differential diagnosis is the process of distinguishing a condition from other diseases with similar findings. Many metabolic, infectious, and genetic conditions can also produce brain calcifications.
Fahr disease : Fahr disease is a historical term used for brain calcification, often inconsistently and sometimes as a synonym for primary familial brain calcification. The overlapping terminology can confuse inherited primary disease with calcification from other causes.
PDGFB : PDGFB is a gene encoding platelet-derived growth factor subunit B, a signaling protein involved in vascular development and maintenance. Pathogenic variants can impair brain-vessel support and lead to cerebral calcification.
Cerebral calcification : Cerebral calcification is the abnormal accumulation of calcium-containing mineral in brain tissue or its vessels. This broader finding describes the deposits that define the disorder.
Hypoparathyroidism : Hypoparathyroidism is a disorder in which insufficient parathyroid hormone causes low blood calcium and high phosphate. It is a treatable secondary cause of brain calcification that must be excluded.
Fahr syndrome : Fahr syndrome describes brain calcification associated with an identifiable secondary cause, such as a metabolic disorder. Unlike the primary familial disorder, it is defined by an underlying acquired or metabolic cause.
PDGFRB : PDGFRB is a gene encoding a cell-surface receptor for platelet-derived growth factor. Its variants can disrupt pericyte signaling, another route to the disorder.
Computed tomography : Computed tomography is an imaging method that reconstructs cross-sectional images from X-ray measurements. CT detects and maps brain calcifications more reliably than routine magnetic resonance imaging.
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