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Article

Primary familial brain calcification: update on molecular genetics.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 May 2015

Taglia Ilaria, Bonifati Vincenzo, Mignarri Andrea, Dotti Maria Teresa, Federico Antonio

Abstract excerpt

Primary familial brain calcification is a neuropsychiatric disorder with calcium deposits in the brain, especially in basal ganglia, cerebellum and subcortical white matter. The disease is characterized by a clinical heterogeneity, with a various combination of symptoms that include movement disorders and psychiatric disturbances; asymptomatic patients have been also reported. To date, three causative genes have...

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Source

Identifiers

PMID: 25686613
DOI: 10.1007/s10072-015-2110-8

Genes

PDGFB
PDGFRB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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