Table 1.
Descriptive characteristics of patients and families according to GRN variant type
| Patients/Family | Variant | Sex (F/M) | Age | Age of onset | Clinical Status | Diagnosis |
|---|---|---|---|---|---|---|
| Family ALZ-172 (n = 3) | c.−8+2T>G | 2/1 | 55.3 ± 2.1 | - | Asymptomatic carriers (n = 2) | - |
| Non-affected (n = 1) | - | |||||
| Family DEM-35 (n =18) | c.708+6_9del | 10/8 | 37.6 ± 17.4 | 47.5 ± 4.9 | Affected (n = 2) | FTD |
| Asymptomatic carriers (n = 4) | ||||||
| Non-affected (n = 12) | ||||||
| Family FTD-16 (n = 4) | p.Cys139Arg | 2/2 | 44.75 ± 8.7 | - | Asymptomatic carriers (n = 4) | - |
| ALZ-132 | p.Pro209Leu | 0/1 | 51 | 45 | Affected | PCA |
| ALZ-35 | p.Val77Ile | 0/1 | 64 | 50 | Affected | AD |
| ALZ-42 | p.Asp33Glu | 0/1 | 80 | 76 | Affected | AD |
| Controls (n = 20) | 12/8 | 49.9 ± 17.1 | - | Non-affected | - | |
Values are expressed as mean ± SD. AD, Alzheimer’s disease; F, female; FTD, frontotemporal dementia; M, male; PCA, posterior cortical atrophy.