2A (father) |
56 |
4 |
Psychiatric symptoms (depression, hallucinations) |
Unstable gait, dysarthria, dysphagia, muscle atrophy of both lower extremities, advanced severe dementia, and two obstacles |
Unknown |
Not done |
Not done |
1B (proband) |
54 |
≥1 |
Psychiatric symptoms (depression, emotional fluctuations) |
Unstable gait, psychiatric symptoms, dementia, and dysfunction in recent follow-up |
See case data for details |
Not done |
P102L mutation in PRNP gene |
1C (daughter) |
32 (Currently without symptoms) |
– |
– |
– |
– |
– |
P102L mutation in PRNP gene |