Case series of ALSP with brain calcifications

CaseSexCSF1R MutationOriginFHAge at Onset (yr)Age at CT (yr)Section Thickness (mm)Location of CalcificationsStepping Stone Appearance on Sagittal CT
FrontalParietal
1Fc.1765G>A/p.G589RaJapan37445+++
2Fc.1954G>C/p.A652PaJapan30312++NA
3Fc.2442+5G>AaJapan+27281++
4Mc.2442+5G>AaJapan+58614 (1)c+++
5Fc.2442+5G>CUS230, 246, 5+++
6Fc.2297T>C/p.M766TUS+18301.3 (1)c++
7Mc.1766G>A/p.G589EUS+58603+NA
8Fc.1766G>A/p.G589EUS+47527++NA
9MUntestedbUS57673+NA
  • Note:—FH indicates family history; NA, not available for sagittal images.

  • a Novel mutations.

  • b This case was diagnosed by pathologic analysis. We could not conduct genetic testing because of a lack of samples.

  • c For axial images, 4 or 1.3 mm and 1 mm for reconstructed sagittal images.