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Article

The Genetics of Primary Familial Brain Calcification: A Literature Review.

International journal of molecular sciences - 29 Jun 2023

Chen Shih-Ying, Ho Chen-Jui, Lu Yan-Ting, Lin Chih-Hsiang, Lan Min-Yu, Tsai Meng-Han

Abstract excerpt

Primary familial brain calcification (PFBC), also known as Fahr's disease, is a rare inherited disorder characterized by bilateral calcification in the basal ganglia according to neuroimaging. Other brain regions, such as the thalamus, cerebellum, and subcortical white matter, can also be affected. Among the diverse clinical phenotypes, the most common manifestations are movement disorders, cognitive deficits,...

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Identifiers

PMID: 37446066
DOI: 10.3390/ijms241310886
PMCID: PMC10342144

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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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