Ossified blood vessels in primary familial brain calcification elicit a neurotoxic astrocyte response

Y Zarb, U Weber-Stadlbauer, D Kirschenbaum… - Brain, 2019 - academic.oup.com
Brain calcifications are commonly detected in aged individuals and accompany numerous
brain diseases, but their functional importance is not understood. In cases of primary familial …

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 familial brain calcification: update on molecular genetics

I Taglia, V Bonifati, A Mignarri, MT Dotti… - Neurological Sciences, 2015 - Springer
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 …

[HTML][HTML] Functional Characterization of Germline Mutations in PDGFB and PDGFRB in Primary Familial Brain Calcification

M Vanlandewijck, T Lebouvier, M Andaloussi Mäe… - PloS one, 2015 - journals.plos.org
Primary Familial Brain Calcification (PFBC), a neurodegenerative disease characterized by
progressive pericapillary calcifications, has recently been linked to heterozygous mutations …

Astrocyte–microglial association and matrix composition are common events in the natural history of primary familial brain calcification

K Nahar, T Lebouvier, M Andaloussi Mäe… - Brain …, 2020 - Wiley Online Library
Primary familial brain calcification (PFBC) is an age‐dependent and rare neurodegenerative
disorder characterized by microvascular calcium phosphate deposits in the deep brain …

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 …

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 …

[HTML][HTML] 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 …

The genetics of primary familial brain calcifications

A Westenberger, C Klein - Current neurology and neuroscience reports, 2014 - Springer
Bilateral accumulation of calcium in the brain, most commonly in the basal ganglia, but also
in the cerebellum, thalamus, and brainstem can be inherited in an autosomal dominant …

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 …