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Article

Deconstructing Fahr's disease/syndrome of brain calcification in the era of new genes.

Parkinsonism & related disorders - 1 Apr 2017

Batla Amit, Tai Xin You, Schottlaender Lucia, Erro Robert, Balint Bettina, Bhatia Kailash P

Abstract excerpt

INTRODUCTION: There are now a number genes, known to be associated with familial primary brain calcification (PFBC), causing the so called 'Fahr's' disease or syndrome. These are SCL20A2, PDGFB, PDGFRB and XPR1. In this systematic review, we analyse the clinical and radiological features reported in genetically confirmed cases with PFBC. We have additionally reviewed pseudohypoparathyroidism which is a close...

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Source

Identifiers

PMID: 28162874
DOI: 10.1016/j.parkreldis.2016.12.024

Genes

PDGFB
PDGFRB
XPR1

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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