Characteristics of the 18 included in meta-analysis
| 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.