An Update on Primary Familial Brain Calcification

Lemos, R. R.; Ferreira, Joana; Keasey, Matthew P.; Oliveira, João Ricardo Mendes de

doi:10.1016/b978-0-12-410502-7.00015-6

Cited by 27 publications

(29 citation statements)

References 84 publications

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“…Intracranial calcifications are also seen following hemorrhage and evolution of hematomas (rarely in chronic subdural hematomas [14]); in cases of increased mineral deposits from metabolic disease, namely primary hypoparathyroidism [15]; in Fahr's disease (familial idiopathic calcification of the basal ganglia) [16], and simply related to ageing in some populations [17].…”

Section: Discussionmentioning

confidence: 99%

Calcification in high grade gliomas treated with bevacizumab

et al. 2015

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Calcification is a rare phenomenon in high grade glioma (HGG). CT scans are sensitive to mineralization but used infrequently for tumor assessment in the MRI era. The presence of calcification can be overlooked on routine MRI. Calcification may reflect chronicity and natural changes in the tumor or its milieu over time and may be accelerated by certain treatments. Calcification may have clinical significance which could signal potential risk for stroke or hemorrhage related to particular therapies; or it may be a positive prognostic factor for treatment response. The true incidence and relevance of calcification in HGG and relation to therapy is unclear. During treatment of HGG patients with bevacizumab (BVZ) we observed significant tumor calcification on brain CT. We performed a retrospective review of HGG patients treated with BVZ to quantitate the incidence of calcification in this group compared to those treated with cytotoxic therapy alone. Sixty-two patients with progressive HGG were treated with BVZ and a cytotoxic agent. Among 19 patients treated for 6+ months, 12 had a CT scan performed. We observed an unexpected phenomenon of calcification in the CT scans of several patients. We were also able to comparatively quantitate the incidence of calcification in a control group of primary glioblastoma (GB) patients not exposed to BVZ therapy. The incidence of calcification in the general GB population is increased with longer survival. The phenomenon is increased with anti-angiogenic therapy for brain tumors. Calcification may have significance as a predictor for treatment response.

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Section: Discussionmentioning

confidence: 99%

Calcification in high grade gliomas treated with bevacizumab

et al. 2015

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“…9 Recently, several families with this condition, but whose members did not exhibit overgrowth, have been reported to carry mutations in PDGFRB and SLA20A2, a gene encoding a type III Na/Pi transporter. 10 An impaired PDGFRB-Pit-1 pathway is thought to cause calcification in vascular smooth muscle cells (vSMCs) and blood-brain barrier disruption, resulting in delayed intracranial calcification and neuropsychiatric manifestations. 11,12 Because the 2 patients reported here were teenagers, the white matter lesion may represent the early disease stage of this PDGFRBvSMC pathology.…”

Section: Discussionmentioning

confidence: 99%

Novel Overgrowth Syndrome Phenotype Due to Recurrent De Novo PDGFRB Mutation

Tamura

Yamaguchi

Tanikawa

et al. 2015

The Journal of Pediatrics

106

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“…The PDGFB is involved in pericyte recruitment, Blood brain barrier (BBB) regulation and angiogenesis [25]. Loss of calcium regulation through the BBB possibly leads to progressive calcinosis [25]. It has also been proposed that the PDGF proteins can have regulatory functions on phosphate transporters XPR1 and PiT in the brain [23].…”

Section: Pathophysiology Of Genetically Determined Brain Calcificationmentioning

confidence: 99%

“…Mutations in both PDGFB and PDGFRB have autosomal dominant mode of inheritance. The PDGFB is involved in pericyte recruitment, Blood brain barrier (BBB) regulation and angiogenesis [25]. Loss of calcium regulation through the BBB possibly leads to progressive calcinosis [25].…”

Section: Pathophysiology Of Genetically Determined Brain Calcificationmentioning

confidence: 99%