Article Figures & Data
Figures
- Figure 1.
Flow diagram including reasons for exclusion of full-text articles.
- Figure 2.
Information of regions on relevant research. A, Distribution of regions contributing to the field. B, Regions’ collaboration world map. C, Trends in the number of publications and citations.
- Figure 3.
Bibliometric analysis of authors: (A) plots of the top 20 most produced authors’ H-index and citation data; (B) authors’ production over time of the top 10 most productive authors. NP, number of publications; AF, articles fractionalized; TC, total citation; LC, local citation.
- Figure 4.
Co-occurrence and network analysis. A, Network analysis of the keywords. B, The co-citation relationship of the articles. C, Network of collaborative relationships between institutions. D, Journal analysis in the research field of genetic effects in PFBC. The dual-map overlay of journals on PFBC generated by CiteSpace software. Specifically, the labels represented different research subjects covered by the journals. Different colored lines correspond to the different paths of references, starting from the citing journals (left half) to the cited journals (right half). The main citing journals were shown in the blue box and the main cited journals were shown in the green box.
- Figure 5.
Forest plots of primary outcome in meta-analysis. A, SLC20A2 variant detection rate combined result. B, PDGFRB variant detection rate combined result. C, PDGFB variant detection rate combined result. D, XPR1 variant detection rate combined result. E, MYORG variant detection rate combined result.
- Figure 6.
Forest plot of secondary outcome in meta-analysis. A, Differences among TCS scores of variants’ location; B, combined result of age of onset. C, Combined results of headache phenotype rate. D, Combined results of cognitive disorder phenotype rate. E, Combined results of movement disorder phenotype rate. F, Combined results of mental symptom phenotype rate. G, Combined results of language disorder phenotype rate. H, Combined results of asymptomatic phenotype rate.
Tables
SCR Title FA Year Journal TC LC TCY NTC NLC 1 Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis Wang C. 2012 Nat Genet 323 148 26.92 2.26 2.98 2 Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice Keller A. 2013 Nat Genet 256 127 23.27 2.64 2.43 3 Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export Legati A. 2015 Nat Genet 231 111 25.67 3.69 3.81 4 Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification Nicolas G. 2013 Neurology 226 124 20.55 2.33 2.37 5 Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification Nicolas G. 2013 Brain 173 95 15.73 1.79 1.82 6 Biallelic mutations in MYORG cause autosomal recessive primary familial brain calcification Yao X.P. 2018 Neuron 122 75 20.33 3.73 5.93 7 Role of phosphate sensing in bone and mineral metabolism Chande S. 2018 Nat Rev Endocrinol 122 5 20.33 3.73 0.40 8 Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification Hsu S.C. 2013 Neurogenetics 117 74 10.64 1.21 1.42 9 Novel overgrowth syndrome phenotype due to recurrent de novo PDGFRB mutation Takenouchi T. 2015 J Pediatr 85 12 9.44 1.36 0.41 10 Loss of function of SLC20A2 associated with familial idiopathic Basal Ganglia calcification in humans causes brain calcifications in mice Jensen N. 2013 J Mol Neurosci 83 48 7.55 0.86 0.92 SCR, standard competition ranking; FA, first author; LC, local citation; TC, total citation; TCY, total citation per year; NLC, normalized local citations; NTC, normalized total citation.
Author Year Country Study Design Sample Size Reported Gene Reported Phenotype Chen et al. 2013 China CS 20 (14 Familial + 6 Sporadic) SLC20A2 Headache, movement disorder, dysarthria, asymptomatic Nicolas et al. 2013 France CC 72 (19 Familial + 6 Sporadic + 47 Probable PFBC) SLC20A2, PDGFRB Cognitive disorder, movement disorder, mental symptom, asymptomatic Hsu et al. 2013 USA RC 218 (All Familial) SLC20A2 N.A. Baker et al. 2014 USA CS 27 (All Familial) SLC20A2 N.A. Sanchez et al. 2014 USA CS 26 (All Familial) PDGFRB, PDGFB N.A. Nicolas et al. 2015 France CS 57 (46 Familial + 11 Sporadic) SLC20A2, PDGFRB, PDGFB Cognitive disorder, movement disorder, mental symptom, asymptomatic Anheim et al. 2016 France CS 18 (All Sporadic) XPR1 Movement disorder David et al. 2016 France CS 24 (14 Familial + 10 Sporadic) SLC20A2 headache, cognitive disorder, mental symptom Gebus et al. 2017 France CS 80 (All Sporadic) SLC20A2, PDGFRB, PDGFB, XPR1 Cognitive disorder, movement disorder Ramos et al. 2018 Italy CS 177 (All Familial) SLC20A2, PDGFRB, PDGFB, XPR1 Cognitive disorder, movement disorder, mental symptom, asymptomatic Hozumi et al. 2018 Japan CC 42 (29 Familial + 13 HC) SLC20A2, PDGFB N.A. Chen et al. 2019 China RC 273 (All Familial) SLC20A2, PDGFRB, PDGFB, XPR1 Headache, movement disorder Chen et al. 2020 China RC 435 (All Familial) MYORG Movement disorder, dysarthria, mental symptom Giorgio et al. 2019 Italy CS 50 (All Sporadic) SLC20A2 Headache, movement disorder, mental symptom, asymptomatic Grangeon et al. 2019 France CS 29 (All Familial) MYORG Cognitive disorder, asymptomatic Guo et al. 2019 China RC 226 (35 Familial + 191 Sporadic) SLC20A2, PDGFRB, PDGFB, XPR1 headache, movement disorder, asymptomatic Chelban et al. 2020 UK CS 86 (All Familial) MYORG Headache, cognitive disorder, movement disorder, dysarthria, asymptomatic Kurita et al. 2021 Japan CS 173 (All Sporadic) SLC20A2, PDGFRB Headache CS, cross-sectional study; CC, case–control study; RC, retrospective cohort study; HC, healthy control; Ref, reference.
- Table 3.
Methodological quality evaluation of the 18 studies included in the meta-analysis
Study Major components of JBI checklist for cross-sectional studies Were the criteria for inclusion in the sample clearly defined? Were the study subjects and the setting described in detail? Was the exposure measured in a valid and reliable way? Were objective criteria used for measurement of the condition? Were confounding factors identified? Were strategies to deal with confounding factors stated? Were the outcomes measured in a valid and reliable way? Was appropriate statistical analysis used? Chen et al. (2013) Yes Yes Yes Unclear Yes Unclear Yes Yes Baker et al. (2014) Yes Yes Yes Yes Unclear Unclear Yes Yes Sanchez-Contreras et al. (2014) Yes Yes Yes Yes Unclear Unclear Yes Yes Nicolas et al. (2015) Yes Yes Yes Yes Yes Yes Yes Yes Anheim et al. (2016) Yes Yes Yes Yes Unclear Unclear Yes Yes David et al. (2016) Yes Yes Yes Yes Yes Yes Yes Yes Gebus et al. (2017) Yes Yes Yes Yes Yes Yes Yes Yes Ramos et al. (2018) Yes Yes Yes Yes Yes Unclear Yes Yes Giorgio et al. (2019) Yes Yes Yes Yes Unclear Unclear Yes Yes Grangeon et al. (2019) Yes Yes Yes Yes Yes Yes Yes Yes Chelban et al. (2020) Yes Yes Yes Yes Yes Yes Yes Yes Kurita et al. (2021) Yes Yes Yes Yes Yes Yes Yes Yes Study Items of Newcastle-Ottawa Scale for case–control studies Selection Comparability Exposure Total (1) (2) (3) (4) (1) (2) (3) Nicolas et al. (2013a) ★ ★ ★ ★ ★★ ★ ★ ★ 9 Hozumi et al. (2018) ★ ★ ★ ★ ★★ ★ ★ ★ 9 Study Items of Newcastle-Ottawa Scale for cohort studies Selection Comparability Outcome Total (1) (2) (3) (4) (1) (2) (3) Hsu et al. (2013) ★ ★ ★ ★ ★★ ★ ✩ ✩ 7 Chen et al. (2020) ★ ★ ★ ★ ★★ ★ ★ ✩ 8 Chen et al. (2019) ★ ★ ★ ★ ★★ ★ ★ ✩ 8 Guo et al. (2019) ★ ★ ★ ★ ★✩ ★ ★ ✩ 7 NOS scare for case–control studies: selection, (1) is case definition adequate, (2) representativeness of the cases, (3) selection of controls, (4) definition of controls; comparability, comparability on basis of design or analysis; exposure, (1) ascertainment of exposure, (2) same method of ascertainment for cases and controls, (3) nonresponse rate. NOS scale for cohort studies: Selection, (1) representativeness of the exposed cohort, (2) selection of the nonexposed cohort, (3) ascertainment of exposure to implants, (4) demonstration that outcome of interest was not present at start of study; comparability: comparability of cohorts on the basis of the design or analysis; outcome, (1) assessment of outcome, (2) was follow-up long enough for outcomes to occur, (3) adequacy of follow-up cohorts.
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