Table 2.
Reported Families with the PSEN1 L153V Mutation
| Family Name | 177 | ALZ 148 | ALZ 180 | ALZ PE |
|---|---|---|---|---|
| Alzheimer's criteria | Definitive | Probable | Probable | Probable |
| Inheritance | AD | AD | AD | AD |
| # Affected individuals | 3 | 5 | 4 | 6 |
| Age at onset | 35.3 [35-36] | [34,40] | [39,44] | 35.7 [33,38] |
| Age of death | 44 [41,49] | ... | ... | 42 |
| Disease duration | 8.6 [6,13] | ... | ... | 3.5 [1,8] |
| Myoclonus | Yes | ... | ... | Yes |
| Seizures | No | ... | ... | Yes |
| Spasticity | No | ... | ... | Yes |
| Ethnic origin | Causasian (UK) | French | French | Mestizo (Peru) |
| Segregation proven | Yes | Yes | Yes | Yes |
| References | Janssen. 2002 | Raux, G.2005 | Raux,G.2005 | This study,2013 |