Table 1

Clinical and demographic data for the major cohorts within the study

PhenotypeNumber of casesMale (number)Female (number)Mean age onset (years) (SD)Mean age death (years) (SD)Number with FHCases with highly penetrant allele or RFOligogenic cases (N (%))Oligogenic cases possessing a penetrant allele or RF (N (%))Fisher’s test (P value)
Control362232 (64.1)130 (35.9)N/A63.3 (18.8)N/AN/A
FTD-ALS244143 (58.6)101 (41.4)59.4 (11.8)64.6 (11.7)143319 (7.78%)11 (57.9%)0.0001
AD277131 (47.3)146 (52.7)65.4 (10.2)77.7 (11.7)11366 (2.17%)6 (100%)0.0001
DLB5836 (62.1)22 (37.9)66.7 (8.4)76.7 (7.0)21625 (25.78%)10 (62.5%)0.0007
PD3928 (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.