Table 1 Clinicopathological data of rare ANXA11 variants
From: Annexin A11 aggregation in FTLD–TDP type C and related neurodegenerative disease proteinopathies
Case | ANXA11 variant | Pathogenicity | GnomAD | Annexin A11 inclusions | Clinical diagnosis | Onset (y) | Age (y) | Sex | Neuropathological diagnosis |
|---|---|---|---|---|---|---|---|---|---|
1 | c.223C > T, p.P75S | Uncertain significance | Absent | Yes | PSP/FTD-NOS | 65–70 | 70–75 | M | FTLD-U |
2 | c.112G > A, p.G38R | Pathogenic | 4.60E-05 | Yes | ALS (Definite) | 60–65 | 60–65 | M | ALS |
3 | c.595G > A, p.G199S | Uncertain significance | 8.55E-05 | Yes | bvFTD | 60–65 | 80–85 | M | FTLD–TDP |
4 | c. 1423C > T, p.R475W | Uncertain significance | 7.90E-05 | No | PSP | 60–65 | 60–65 | F | PSP |
5 | c.1010 T > A, p.L337H | Uncertain significance | 2.30E-04 | No | PSP | 60–65 | 70–75 | M | PSP |