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Table 1 Details of the 7 previous studies investigating the presence of a hexanucleotide expansion in C9ORF72 in patients with Alzheimer’s disease

From: Pathological assessments for the presence of hexanucleotide repeat expansions in C9ORF72 in 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)