The genetics of primary familial brain calcification: a literature review

SY Chen, CJ Ho, YT Lu, CH Lin, MY Lan… - International Journal of …, 2023 - mdpi.com
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 …

Bone-derived PDGF-BB drives brain vascular calcification in male mice

J Wang, CL Fang, K Noller, Z Wei, G Liu… - The Journal of …, 2023 - Am Soc Clin Investig
Brain vascular calcification is a prevalent age-related condition often accompanying
neurodegenerative and neuroinflammatory diseases. The pathogenesis of large-vessel …

Biallelic mutations in MYORG cause autosomal recessive primary familial brain calcification

XP Yao, X Cheng, C Wang, M Zhao, XX Guo, HZ Su… - Neuron, 2018 - cell.com
Primary familial brain calcification (PFBC) is a genetically heterogeneous disorder
characterized by bilateral calcifications in the basal ganglia and other brain regions. The …

Primary brain calcification: an international study reporting novel variants and associated phenotypes

EM Ramos, M Carecchio, R Lemos, J Ferreira… - European Journal of …, 2018 - nature.com
Primary familial brain calcification (PFBC) is a rare cerebral microvascular calcifying
disorder with a wide spectrum of motor, cognitive, and neuropsychiatric symptoms. It is …

Interplay between primary familial brain calcification-associated SLC20A2 and XPR1 phosphate transporters requires inositol polyphosphates for control of cellular …

U López-Sánchez, S Tury, G Nicolas, MS Wilson… - Journal of Biological …, 2020 - ASBMB
Solute carrier family 20 member 2 (SLC20A2) and xenotropic and polytropic retrovirus
receptor 1 (XPR1) are transporters with phosphate uptake and efflux functions, respectively …

Primary familial brain calcifications

B Quintáns, J Oliveira, MJ Sobrido - Handbook of clinical neurology, 2018 - Elsevier
Primary familial brain calcification (PFBC) is a neurodegenerative disease with characteristic
calcium deposits in the basal ganglia and other brain regions. The disease usually presents …

Inorganic phosphate exporter heterozygosity in mice leads to brain vascular calcification, microangiopathy, and microgliosis

U Maheshwari, JM Mateos… - Brain …, 2023 - Wiley Online Library
Calcification of the cerebral microvessels in the basal ganglia in the absence of systemic
calcium and phosphate imbalance is a hallmark of primary familial brain calcification …

The Association between Intracranial Calcifications and Symptoms in Patients with Primary Familial Brain Calcification

G Mathijssen, E van Valen, PA de Jong… - Journal of Clinical …, 2024 - mdpi.com
(1) Background: Primary Familial Brain Calcification (PFBC) is a neurodegenerative disease
characterized by bilateral calcifications of the basal ganglia and other intracranial areas …

[HTML][HTML] Neuropsychiatric manifestations of fahr's disease, diagnostic and therapeutic challenge: A case report and a literature review

MG Carbone, F Della Rocca - Clinical Neuropsychiatry, 2022 - ncbi.nlm.nih.gov
Objective Calcifications in basal ganglia could be an incidental finding up to 20% of
asymptomatic patients undergoing computed tomography (CT) or magnetic resonance …

[HTML][HTML] Hypoparathyroidism with Fahr's syndrome: A case report and review of the literature

YY Zhou, Y Yang, HM Qiu - World Journal of Clinical Cases, 2019 - ncbi.nlm.nih.gov
Hypoparathyroidism with Fahr’s syndrome: A case report and review of the literature - PMC Back
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