Table 1.
CYLD rare damaging variants identified in AD and FTD patients.
| Patient | Gender | Age at onset (years) | Age (years) | Disease duration (years) | Initial symptoms | Family history | MMSE | CDR | MTA | PET | APOE | Diagnosis | Variant | Allele and total read depth | GnomAD East Asian non‐neuro MAF | Damaging Prediction (MutationTaster/SIFT/PolyPhen2) |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| No 1 | M | 79 | 81 | 2 | Memory decline | + | 8 | 2 | 2 | Aβ deposition | 3/4 | AD | c.864 T > A:p.Phe288Leu | 40/58 | 0 | D/T/B |
| No 2 | F | 49 | 52 | 3 | Memory decline | − | 12 | 1 | 3 | NA | 3/3 | AD | c.1189C > A:p.Arg397Ser | 24/63 | 3.43 × 10−4 (5/14558) | D/T/B |
| No 3 | F | 46 | 51 | 5 | Memory decline | − | 17 | 1 | 2 | NA | 3/3 | AD | c.1189C > A:p.Arg397Ser | 38/69 | 3.43 × 10−4 (5/14558) | D/T/B |
| No 4 | F | 46 | 48 | 2 | Memory decline | − | 9 | 2 | 2 | Aβ deposition | 3/3 | AD | c.1189C > A:p.Arg397Ser | 38/72 | 3.43 × 10−4 (5/14558) | D/T/B |
| No 5 | F | 68 | 70 | 2 | Memory decline | + | 10 | 2 | 3 | NA | 3/4 | AD | c.1189C > A:p.Arg397Ser | 29/60 | 3.43 × 10−4 (5/14558) | D/T/B |
| No 6 | F | 74 | 80 | 6 | Memory decline | − | 4 | 3 | 3 | NA | 3/3 | AD | c.1454A > T:p.Tyr485Phe | 19/33 | 0 | D/T/B |
| No 7 | M | 58 | 60 | 2 | Memory decline | − | 7 | 2 | 2 | NA | 3/3 | AD | c.1454A > T:p.Tyr485Phe | 19/37 | 0 | D/T/B |
| No 8 | M | 68 | 72 | 4 | Memory decline | − | 7 | 2 | 3 | Aβ deposition | 3/3 | AD | c.1454A > T:p.Tyr485Phe | 11/21 | 0 | D/T/B |
| No 9 | M | 59 | 67 | 8 | Memory decline | + | 6 | 3 | 2 | NA | 4/4 | AD | c.1454A > T:p.Tyr485Phe | 45/91 | 0 | D/T/B |
| No 10 | M | 70 | 71 | 1 | Memory decline | + | 16 | 1 | 3 | Aβ deposition | 3/3 | AD | c.2851A > G:p.Thr951Ala | 23/45 | 0 | D/D/B |
| No 11 | M | 56 | 59 | 3 | Abnormal behavior | − | 13 | 1 | 1 |
Decreased metabolism in the bilateral frontal lobe No Aβ deposition |
3/4 | FTD | c.1189C > A:p.Arg397Ser | 17/33 | 3.43 × 10−4 (5/14558) | D/T/B |
AD, Alzheimer's disease; FTD, frontotemporal dementia; M, male; F, female; MMSE, Mini‐mental State Examination; MoCA, Montreal Cognitive Assessment; CDR, Clinical Dementia Rating; MTA, medial temporal lobe atrophy; PET, positron emission tomography; Aβ, amyloid β; MAF, minor allele frequency; P‐tau, phosphorylated tau; T‐tau, total tau; NA, not available; D, damaging; T, tolerable; B, benign.