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The Genetics of Primary Familial Brain Calcification: A Literature Review

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....

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Autores principales: Chen, Shih-Ying, Ho, Chen-Jui, Lu, Yan-Ting, Lin, Chih-Hsiang, Lan, Min-Yu, Tsai, Meng-Han
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10342144/
https://www.ncbi.nlm.nih.gov/pubmed/37446066
http://dx.doi.org/10.3390/ijms241310886
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author Chen, Shih-Ying
Ho, Chen-Jui
Lu, Yan-Ting
Lin, Chih-Hsiang
Lan, Min-Yu
Tsai, Meng-Han
author_facet Chen, Shih-Ying
Ho, Chen-Jui
Lu, Yan-Ting
Lin, Chih-Hsiang
Lan, Min-Yu
Tsai, Meng-Han
author_sort Chen, Shih-Ying
collection PubMed
description 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, and psychiatric disturbances. Although patients with PFBC always exhibit brain calcification, nearly one-third of cases remain clinically asymptomatic. Due to advances in the genetics of PFBC, the diagnostic criteria of PFBC may need to be modified. Hitherto, seven genes have been associated with PFBC, including four dominant inherited genes (SLC20A2, PDGFRB, PDGFB, and XPR1) and three recessive inherited genes (MYORG, JAM2, and CMPK2). Nevertheless, around 50% of patients with PFBC do not have pathogenic variants in these genes, and further PFBC-associated genes are waiting to be identified. The function of currently known genes suggests that PFBC could be caused by the dysfunction of the neurovascular unit, the dysregulation of phosphate homeostasis, or mitochondrial dysfunction. An improved understanding of the underlying pathogenic mechanisms for PFBC may facilitate the development of novel therapies.
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spelling pubmed-103421442023-07-14 The Genetics of Primary Familial Brain Calcification: A Literature Review Chen, Shih-Ying Ho, Chen-Jui Lu, Yan-Ting Lin, Chih-Hsiang Lan, Min-Yu Tsai, Meng-Han Int J Mol Sci Review 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, and psychiatric disturbances. Although patients with PFBC always exhibit brain calcification, nearly one-third of cases remain clinically asymptomatic. Due to advances in the genetics of PFBC, the diagnostic criteria of PFBC may need to be modified. Hitherto, seven genes have been associated with PFBC, including four dominant inherited genes (SLC20A2, PDGFRB, PDGFB, and XPR1) and three recessive inherited genes (MYORG, JAM2, and CMPK2). Nevertheless, around 50% of patients with PFBC do not have pathogenic variants in these genes, and further PFBC-associated genes are waiting to be identified. The function of currently known genes suggests that PFBC could be caused by the dysfunction of the neurovascular unit, the dysregulation of phosphate homeostasis, or mitochondrial dysfunction. An improved understanding of the underlying pathogenic mechanisms for PFBC may facilitate the development of novel therapies. MDPI 2023-06-29 /pmc/articles/PMC10342144/ /pubmed/37446066 http://dx.doi.org/10.3390/ijms241310886 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Chen, Shih-Ying
Ho, Chen-Jui
Lu, Yan-Ting
Lin, Chih-Hsiang
Lan, Min-Yu
Tsai, Meng-Han
The Genetics of Primary Familial Brain Calcification: A Literature Review
title The Genetics of Primary Familial Brain Calcification: A Literature Review
title_full The Genetics of Primary Familial Brain Calcification: A Literature Review
title_fullStr The Genetics of Primary Familial Brain Calcification: A Literature Review
title_full_unstemmed The Genetics of Primary Familial Brain Calcification: A Literature Review
title_short The Genetics of Primary Familial Brain Calcification: A Literature Review
title_sort genetics of primary familial brain calcification: a literature review
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10342144/
https://www.ncbi.nlm.nih.gov/pubmed/37446066
http://dx.doi.org/10.3390/ijms241310886
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