Ossified blood vessels in primary familial brain calcification elicit a neurotoxic astrocyte response
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 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 …
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 …
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 …
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 …
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 …
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 …
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
Brain vascular calcification is a prevalent age-related condition often accompanying
neurodegenerative and neuroinflammatory diseases. The pathogenesis of large-vessel …
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 …
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 …
calcium deposits in the basal ganglia and other brain regions. The disease usually presents …