Table 1.
Clinical and demographic data for the major cohorts within the study
| Phenotype | Number of cases | Male (number) | Female (number) | Mean age onset (years) (SD) | Mean age death (years) (SD) | Number with FH | Cases with highly penetrant allele or RF | Oligogenic cases (N (%)) | Oligogenic cases possessing a penetrant allele or RF (N (%)) | Fisher’s test (P value) |
| Control | 362 | 232 (64.1) | 130 (35.9) | N/A | 63.3 (18.8) | N/A | N/A | |||
| FTD-ALS | 244 | 143 (58.6) | 101 (41.4) | 59.4 (11.8) | 64.6 (11.7) | 14 | 33 | 19 (7.78%) | 11 (57.9%) | 0.0001 |
| AD | 277 | 131 (47.3) | 146 (52.7) | 65.4 (10.2) | 77.7 (11.7) | 11 | 36 | 6 (2.17%) | 6 (100%) | 0.0001 |
| DLB | 58 | 36 (62.1) | 22 (37.9) | 66.7 (8.4) | 76.7 (7.0) | 2 | 16 | 25 (25.78%) | 10 (62.5%) | 0.0007 |
| PD | 39 | 28 (71.8) | 11 (28.2) | 59.9 (10.9) | 72.3 (9.2) |
Oligogenic was defined by the presence of >1 variant within the relevant disease panel at <1% MAF in the Exome Aggregation Consortium database. Monogenic or cases harbouring genetic risk factors were defined as outlined in the supplementary methods.11
AD, Alzheimer’s disease; DLB, dementia with Lewy bodies; FH, family history; FTD-ALS, frontotemporal dementia-amyotrophic lateral sclerosis; MAF, Minor allele frequency; N/A, not available; PD, Parkinson’s disease.