Primary Familial Brain Calcification With Known Gene Mutations

Tadić, Vera; Westenberger, Ana; Domingo, Aloysius; Alvarez‐Fischer, Daniel; Klein, Christine; Kasten, Meike

doi:10.1001/jamaneurol.2014.3889

Cited by 79 publications

(46 citation statements)

References 31 publications

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“…As in previous studies, SLC20A2 was the most frequently mutated gene for PFBC (Hsu et al, 2013;Lemos, Ferreira, Keasey, & Oliveira, 2013). Approximately 40% of PFBC patients harbored mutations in SLC20A2, and more than 80 subtle mutations have been reported Ramos et al, 2018;Tadic et al, 2015;Westenberger & Klein, 2014). In our cohort, SLC20A2 mutations were also the major cause for PFBC, further confirming the results from other ancestries Yamada et al, 2014).…”

Section: Discussionsupporting

confidence: 91%

“…PFBC patients usually showed heterogeneous clinical manifestations. As reported previously, clinical symptoms were present in 57.9-64.1% of genetically confirmed PFBC patients Tadic et al, 2015). This ratio in our cohort was only 44.8%.…”

Section: Discussionsupporting

confidence: 71%

“…In particular, one study pointed out the lack of segregation of headache with brain calcification (Nicolas, Pottier, Charbonnier, et al, 2013), which suggests the need for large case-control studies to address the problem. Moreover, Parkinsonism was not presented in our patients, but could appear in 12-16% of other PFBC cohorts (Batla et al, 2017;Tadic et al, 2015). Brain CT scans are currently the most sensitive and reliable test for PFBC, which may reflect the disease status (Hsu et al, 2013).…”

Section: Discussionmentioning

confidence: 72%

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Spectrum of SLC20A2 , PDGFRB , PDGFB , and XPR1 mutations in a large cohort of patients with primary familial brain calcification

et al. 2019

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Primary familial brain calcification (PFBC) is a rare neurodegenerative disorder with four causative genes (SLC20A2, PDGFRB, PDGFB, and XPR1) that have been identified. Here, we aim to describe the mutational spectrum of four causative genes in a series of 226 unrelated Chinese PFBC patients. Mutations in four causative genes were detected in 16.8% (38/226) of PFBC patients. SLC20A2 mutations accounted for 14.2% (32/226) of all patients. Mutations in the other three genes were relatively rare, accounting for 0.9% (2/226) of all patients, respectively. Clinically, 44.8% of genetically confirmed patients (probands and relatives) were considered symptomatic. The most frequent symptoms were chronic headache, followed by movement disorders and vertigo. Moreover, the total calcification score was significantly higher in the symptomatic group compared to the asymptomatic group. Functionally, we observed impaired phosphate transport induced by seven novel missense mutations in SLC20A2 and two novel mutations in XPR1. The mutation p.D164Y in XPR1 might result in low protein expression through an enhanced proteasome pathway. In conclusion, our study further confirms that mutations in SLC20A2 are the major cause of PFBC and provides additional evidence for the crucial roles of phosphate transport impairment in the pathogenies of PFBC.

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Section: Discussionsupporting

confidence: 91%

Section: Discussionsupporting

confidence: 71%

Section: Discussionmentioning

confidence: 72%

See 1 more Smart Citation

Spectrum of SLC20A2 , PDGFRB , PDGFB , and XPR1 mutations in a large cohort of patients with primary familial brain calcification

et al. 2019

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“…PFBC is inherited in an autosomal dominant manner and, thus far, four genes have been identified. Two have been linked to phosphate metabolism (SLC20A2, XPR1), while the other two were initially associated with blood brain barrier (BBB) integrity and pericytes maintenance (PDGFB, PDGFRB) (Tadic et al 2015).…”

Section: To the Editormentioning

confidence: 99%

New Studies on Knockout Mouse for the SLC20A2 Gene Show Much More Than Brain Calcifications

Oliveira

2016

J Mol Neurosci

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“…[9] In addition, evidencei s emerging that HAP deposition mayp lay ar ole in the development and progression of age-related maculard egeneration in the retina and neurodegenerationi nt he brain. [7] Therefore, monitoring calcification in health andd isease is critical for diagnosis, monitoring progression and treatment.…”

mentioning

confidence: 99%

Fluorescent Arylphosphonic Acids: Synergic Interactions between Bone and the Fluorescent Core

Zorlu

Brown

Keil

et al. 2020

Chemistry A European J

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Herein, we report the third generation of fluorescent probes (arylphosphonic acids) to target calcifications, particularly hydroxyapatite (HAP). In this study, we use highly conjugated porphyrin‐based arylphosphonic acids and their diesters, namely 5,10,15,20‐tetrakis[m‐(diethoxyphosphoryl)phenyl]porphyrin (m‐H8TPPA‐OEt8) and 5,10,15,20‐tetrakis [m‐phenylphosphonic acid]porphyrin (m‐H8TPPA), in comparison with their positional isomers 5,10,15,20‐tetrakis[p‐(diisopropoxyphosphoryl)phenyl]porphyrin (p‐H8TPPA‐iPr8) and 5,10,15,20‐tetrakis [p‐phenylphosphonic acid]porphyrin (p‐H8TPPA), which have phosphonic acid units bonded to sp2 carbon atoms of the fluorescent core. The conjugation of the fluorescent core is thus extended to the (HAP) through sp2‐bonded −PO3H2 units, which generates increased fluorescence upon HAP binding. The resulting fluorescent probes are highly sensitive towards the HAP in rat bone sections. The designed probes are readily taken up by cells. Due to the lower reported toxicity of (p‐H8TPPA), these probes could find applications in monitoring bone resorption or adsorption, or imaging vascular or soft tissue calcifications for breast cancer diagnosis etc.

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Primary Familial Brain Calcification With Known Gene Mutations

Cited by 79 publications

References 31 publications

Spectrum of SLC20A2 , PDGFRB , PDGFB , and XPR1 mutations in a large cohort of patients with primary familial brain calcification

Spectrum of SLC20A2 , PDGFRB , PDGFB , and XPR1 mutations in a large cohort of patients with primary familial brain calcification

New Studies on Knockout Mouse for the SLC20A2 Gene Show Much More Than Brain Calcifications

Fluorescent Arylphosphonic Acids: Synergic Interactions between Bone and the Fluorescent Core

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