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 …

Phosphate transport in epithelial and nonepithelial tissue

N Hernando, K Gagnon, E Lederer - Physiological reviews, 2021 - journals.physiology.org
Phosphate is an essential nutrient for life and is a critical component of bone formation, a
major signaling molecule, and structural component of cell walls. Phosphate is also a …

The pathology of primary familial brain calcification: implications for treatment

X Xu, H Sun, J Luo, X Cheng, W Lv, W Luo… - Neuroscience …, 2023 - Springer
Primary familial brain calcification (PFBC) is an inherited neurodegenerative disorder mainly
characterized by progressive calcium deposition bilaterally in the brain, accompanied by …

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

A Batla, XY Tai, L Schottlaender, R Erro, B Balint… - Parkinsonism & related …, 2017 - Elsevier
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 …

Brain calcification process and phenotypes according to age and sex: Lessons from SLC20A2, PDGFB, and PDGFRB mutation carriers

G Nicolas, C Charbonnier, RR de Lemos… - American Journal of …, 2015 - Wiley Online Library
Primary Familial Brain Calcification (PFBC) is a dominantly inherited cerebral microvascular
calcifying disorder with diverse neuropsychiatric expression. Three causative genes have …

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 …

Primary familial brain calcifications: genetic and clinical update

A Westenberger, A Balck, C Klein - Current opinion in neurology, 2019 - journals.lww.com
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Update and Mutational Analysis of SLC20A2: A Major Cause of Primary Familial Brain Calcification

RR Lemos, EM Ramos, A Legati, G Nicolas… - Human …, 2015 - Wiley Online Library
Primary familial brain calcification (PFBC) is a heterogeneous neuropsychiatric disorder,
with affected individuals presenting a wide variety of motor and cognitive impairments, such …

[HTML][HTML] EOS789, a novel pan-phosphate transporter inhibitor, is effective for the treatment of chronic kidney disease–mineral bone disorder

Y Tsuboi, S Ohtomo, Y Ichida, H Hagita, K Ozawa… - Kidney International, 2020 - Elsevier
Chronic kidney disease is characterized as impaired renal function along with the imbalance
and dysregulation of mineral metabolism; recognized as chronic kidney disease-mineral …

Mechanisms of calcification in Fahr disease and exposure of potential therapeutic targets

MEM Peters, EJM de Brouwer, JW Bartstra… - Neurology: Clinical …, 2020 - neurology.org
Purpose of review There is growing interest in disorders involved in ectopic mineralization.
Fahr disease or idiopathic basal ganglia calcification can serve as a model for ectopic …