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Table 1 Demographic and genetic features of HDLS and control case cohorts. Inclusive of cases with fixed tissue available (+) for imaging studies as well as cases from enlarged HDLS cohort without fixed tissue available (−) with available pathology reports and demographic data sufficient for inclusion in gender and AD pathology analyses. NA = information not available or not applicable to that case. Student’s t-test was performed on age at death between male and female HDLS cohorts, female age at death was significantly younger than male (p = 0.032)

From: Loss of homeostatic microglial phenotype in CSF1R-related Leukoencephalopathy

Group Case # Sex Age CSF1R Mutation Histopathology Expression
HDLS 1 F 46 c.1897G > A, p.Glu633Lys + +
HDLS 2 M 55 c.2320-2A > G, p.Cys774_Asn814del + +
HDLS 5 F 58 c.2633C > A p.Pro878His + +
HDLS 6 M 49 c.2297 T > C, p.Met766Thr + +
HDLS 9 F 52 c.2381 T > C, p.Ile794Thr + +
HDLS 11 M 51 c.2330G > A, p.Arg777Gln + +
HDLS 13 M 71 c.1897G > A, p.Glu633Lys +
HDLS 14 F 49 c.2603 T > C, p.Lys868Pro +
HDLS 15 F 55 c.2603 T > C, p.Lys868Pro +
HDLS 16 M 62 c.2381 T > C, p.Ile794Thr +
HDLS 17 F NA c.2297 T > C, p.Met766Thr +
Normal 3 M 69   +
Normal 4 M 63   +
Normal 7 F 61   +
Normal 8 F 60   + +
Normal 10 M 53   +
Normal 12 F 56   +
Normal 18 M 74   +
Normal 19 M 51   +
Normal 20 F 65   +
Normal 21 M 82   +
Normal 22 F 60   +
Normal 23 M 65   +
Normal 24 M 50   +
Normal 25 M 50   +
Normal 26 F 53   +
Normal 27 M 63   +