Table 1.
Summary of clinical phenotypes
| Patient (pedigree) | Mutation | Clinical characteristics
|
||||
|---|---|---|---|---|---|---|
| Dementia (age of onset) | Cognitive features | Neurologic features | Psychiatric features | Seizures | ||
| III;6 | PSEN1 E280K | + (55 years) | UK | Parkinsonism (62 years) | Mood + behavioralchanges – repetitive and compulsive actions, hallucinations | UK |
| III;10 | PSEN1 E280K | + (48 years) | Executive dysfunction Fluctuating cognition | Parkinsonism (54 years) | Mood + behavioralchanges, hallucinations | Myoclonic jerk |
| III;8 | PSEN1 E280K | + (57 years) | UK | UK | Behavioral changes – aggression | UK |
| IV;19 | – | – | Learning difficulty | – | – | Epilepsy |
| V;3 | – | – | Learning difficulty | – | – | Epilepsy |
| V;10 | ||||||
| V;6 | – | – | Learning difficulty | – | – | – |
| V;7 | – | – | Learning difficulty | – | – | – |
| IV;7 | PRNP G127S | – | Attention deficit; learning difficulty | – | Behavioral changes – aggression (teenage onset), promiscuity | Epilepsy |
| IV;8 | – | – | Learning difficulty | – | Behavioral changes – aggression (teenage onset), promiscuity, domestic violence | Epilepsy |
| IV;1 | – | – | – | – | – | – |
| III;7 | – | – | – | – | – | – |
| IV;2 | – | – | – | – | – | – |
| IV;3 | – | – | – | – | – | – |
| III;3 | Died, 72 years | + (62 years) | UK | UK | Behavioral changes | UK |
| III;5 | Died, 71 years | + (60 years) | UK | UK | Behavioral changes | UK |
| II;3 | Died, 71 years(unrelated cause – colorectal cancer) | + (Uncertain) | UK | UK | Behavioral changes – aggression, paranoia, domestic violence | UK |
Note: Deceased (not tested).
Abbreviations: UK, unknown; PSEN1, presenilin 1.