Table 1 Details of the 7 previous studies investigating the presence of a hexanucleotide expansion in C9ORF72 in patients with Alzheimer’s disease
Study | Total number of cases investigated with clinical AD | Number of cases with expansion in C9ORF72 | Number of cases with expansion in C9ORF72 with AD confirmed by pathology (or on further clinical review) | Number of cases with expansion in C9ORF72 but with other disorders confirmed by pathology (or on clinical review) |
|---|---|---|---|---|
[14] | 904 | 11 | 0 (0) | 0 (11) |
[15] | 1217 | 5 | 0 (5) | 0 (0) |
[16] | 872 | 5 | 1 (4) | 0 (0) |
[17] | 1184 | 11 | 3 (6) | 1 (1) |
[18] | 342 | 6 | 0 (5) | 1 (0) |
[19] | 568 | 0 | 0 | 0 |
[20] | 424 | 0 | 0 (0) | 0 (0) |
Total | 5511 | 38 | 4 (20) | 2 (12) |