Table 1.
Summary of clinical and neuropathologic findings
| Subjects | Age at onset (years) | Age at death (years) | Presenting signs | Clinical signs along disease coursea | Fresh brain weight (g) |
|---|---|---|---|---|---|
| Ohio family (R191Q) | |||||
| I.1 | 53 | 68 | W | W | n.a. |
| II.1 | 63 | 70 | M, P | F, My, M, P | 930 |
| II.2 | 48 | 64 | My | My, B? | n.a. |
| II.3 | 51 | 63 | W | W, P | n.a. |
| Pennsylvania family (T262A) | |||||
| I.1 | n.a. | 55 | n.a. | F | n.a. |
| II.1 | 48 | 56 | F | F | n.a. |
| II.2 | 47 | 60 | W | W, F? | n.a. |
| II.3 | 55 | 65 | F | F, P | 980 |
| II.4 | 53 | 68 | F | F | 1000 |
| II.5 | 51 | 64 | F | F, M | 1150 |
| III.1 | 56 | 60 | F | F | 1130 |
| III.2 | n.a. | n.a. | M | M | n.a. |
| III.3 | 39 | n.a. | M | M | n.a. |
| III.4 | 44 | n.a. | P | P | n.a. |
| III.5 | 20s? | n.a. | F? | F? | n.a. |
| Indiana family (R159C) | |||||
| I.1 | 68 | 78 | F | F | n.a. |
| II.1 | 65 | 72 | W | W, F? | n.a. |
| II.2 | 73 | 78 | F | F | 1052 |
| III.1 | n.a. | 53 | n.a | n.a. | 1440 |
F, frontotemporal dementia; My, myopathy; M, motor neuron disease; W, weakness not otherwise specified; P, Parkinsonism; B, Paget’s disease of the bone; ?, unconfirmed finding; n.a., not applicable or not available.
a
Diagnoses are based on best clinical judgment, diagnostic criteria, and, when available, diagnostic evidence from neurophysiologic and/or pathological studies.