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Article

Primary familial brain calcification with known gene mutations: a systematic review and challenges of phenotypic characterization.

JAMA neurology - 1 Apr 2015

Tadic Vera, Westenberger Ana, Domingo Aloysius, Alvarez-Fischer Daniel, Klein Christine, Kasten Meike

Abstract excerpt

IMPORTANCE: In the past 2 years, 3 genes (SLC20A2, PDGFRB, and PDGFB) were identified as causative of primary familial brain calcification (PFBC), enabling genotype-specific phenotyping. OBJECTIVES: To provide a systematic literature review on the neuroimaging and clinical phenotype of genetically confirmed PFBC and summarize known pathophysiological mechanisms, to improve and harmonize future phenotype...

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Source

Identifiers

PMID: 25686319
DOI: 10.1001/jamaneurol.2014.3889

Genes

PDGFB
PDGFRB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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