Table 1.
Clinical overview of patients with C9ORF72 mutations
| ID | Sex | Age at onset (years) | Years onset to referral death | Family history |
Family members affected | Clinical classification at presentation | Dominant presenting problem | ||
|---|---|---|---|---|---|---|---|---|---|
| FTD | MND | ||||||||
| 1 | F | 54 | <1 | ? | − | + | Two brothers | FTD/MND | Speech production |
| 2 | F | 54 | 1 | 1 | + | − | Sister | FTD/MND | Speech production |
| 3 | F | 72 | 1 | 2 | − | − | – | FTD/MND | Speech production |
| 4 | M | 58 | <1 | ? | ? | ? | ? | FTD/MND | Speech production |
| 5 | M | 57 | <1 | ? | + | − | Father | FTD/MND | Psychosis |
| 6 | F | 68 | 4 | 5 | + | + | Brother FTD, sister MND | FTD/MND | Psychosis |
| 7 | F | 70 | 1 | ? | + | + | Two sisters FTD-MND; mother, son and daughter MND | FTD/MND | Behaviour |
| 8 | M | 58 | 1 | 2 | − | − | FTD/MND | Behaviour | |
| 9 | M | 57 | 1 | 2 | + | − | Mother, uncle | FTD/MND | Behaviour |
| 10 | M | 49 | 6 | 9 | + | − | Four sibs | FTD | Psychosis |
| 11 | M | 55 | 1 | ? | + | + | Mother (FTD-MND) | FTD | Psychosis |
| 12 | M | 64 | 1 | ? | + | − | Father, brother, three aunts | FTD | Psychosis |
| 13 | M | 65 | 2 | ? | + | − | Father | FTD | Psychosis |
| 14 | F | 53 | <1 | ? | − | − | – | FTD | Psychosis |
| 15 | M | 58 | 3 | ? | − | − | – | FTD | Behaviour |
| 16 | M | 62 | 10 | ? | + | − | Brother-dementia, father- parkinsonian | FTD | Behaviour |
| 17 | M | 68 | 5 | ? | − | − | – | FTD | Behaviour |
| 18 | M | 39 | 1 | ? | + | − | Mothera, grandfather | FTD | Behaviour |
| 19 | M | 70 | 2 | ? | − | − | – | FTD | Behaviour |
| 20 | F | 52 | 10 | ? | + | − | Mother, sister | FTD | Behaviour/psychosis |
| 21 | M | 55 | 4 | ? | + | − | Father, uncle | FTD | Behaviour |
| 22 | F | 62 | ? | + | + | Mother, uncle, grandmother (dementia), brother (MND) | FTD | Behaviour/psychosis | |
| 23 | M | 46 | 2 | ? | + | − | Mother | FTD | Behaviour/psychosis |
| 24 | M | 59 | 4 | 11 | −b | − | – | FTD | Behaviour/psychosis |
| 25 | M | 55 | 2 | ? | − | − | – | FTD | Behaviour |
| 26 | F | 72 | 1 | ? | − | − | – | FTD | Behaviour |
| 27 | M | 56 | 4 | ? | + | − | Mother, grandparent | FTD | Psychosis |
| 28 | F | 60 | 1 | 6 | + | − | Father, sonc | FTD | Behaviour |
| 29 | F | 47 | 3 | ? | + | − | Mother | SD/FTD | Language/behaviour |
| 30 | F | 52 | 1 | 4 | − | − | – | PNFA | Expressive language |
| 31 | F | 62 | 2 | 4 | + | − | Mother | PNFA | Expressive language |
| 32 | F | 58 | 4 | ? | − | − | – | PNFA | Expressive language |
a Mother = Patient 28.
b Father and five siblings had genetically confirmed Huntington's disease, for which screening was negative in patient.
c Son = Patient 18.
PNFA = progressive non-fluent aphasia; SD/FTD = semantic dementia with frontal features; + = present; − = absent; ? = not known.