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Article

Pathophysiology of Primary Familial Brain Calcification.

Annual review of physiology - 1 Feb 2026

Keller Annika

Abstract excerpt

Primary familial brain calcification (PFBC) is a dominantly or recessively inherited neurodegenerative disease characterized by bilateral basal ganglia calcifications. Patients affected by PFBC present with diverse motor and nonmotor symptoms. Mutations in seven genes (SLC20A2, XPR1, PDGFB, PDGFRB, MYORG, NAA60, and JAM2) are associated with PFBC. PFBC genes encode proteins that comprise inorganic phosphate...

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Source

Identifiers

PMID: 41212990
DOI: 10.1146/annurev-physiol-050624-092133

Genes

JAM2
MYORG
NAA60
PDGFB
PDGFRB
SLC20A2
XPR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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