Table 1.
Demographic, clinical, neuropathologic, and genetic findings of all affected individuals
| Kindred | Case | Duration (years) |
Initial Diagnosis |
Current/Final Diagnosis |
Autopsy Findings |
PGRN Mutation |
Reference |
|---|---|---|---|---|---|---|---|
| Kindred 1 | I.1 | 5 | dementia NOS |
encephalomalacia | |||
| I.2 | * | dementia NOS |
dementia NOS | ||||
| II.1 (P) | 6 | PD | CBS | FTLD-U NII | Boeve et al, 2002 | ||
| II.2 | 7 | FTD | FTDP | FTLD-U NII | c.1145delC | Boeve et al, 2002 | |
| II.3 | >4 | FTD | FTD/CBS | c.1145delC | |||
| II.4 | * | dementia NOS |
dementia NOS | ||||
| Kindred 2 | I.1 | 5 | AD | AD | |||
| I.2 | 3 | dementia NOS |
dementia NOS | ||||
| II.1 | 7 | AD | AD | FTLD-U NII + AD + VD |
c.154delA | ||
| II.2 | * | dementia NOS |
dementia NOS | ||||
| II.3 | 2 | AD | AD + Park | FTLD-U NII | c.154delA | ||
| II.4 | 7 | AD | FTD | FTLD-U NII | c.154delA | ||
| II.5 (P) | 7 | amnestic MCI |
AD | FTLD-U NII | c.154delA | ||
| III.1 | >2 | amnestic MCI + dep |
amnestic MCI + dep |
c.154delA | |||
| III.2 | >7 | FTD/DLB | FTDP | c.154delA | |||
| III.3 | >7 | PPA | PPA/FTD | c.154delA | |||
| Kindred 3 | III.1 | 9 | dementia NOS |
dementia NOS | |||
| III.2 | 7 | dementia, AD |
AD | ||||
| III.3 | 1 (fire) | dementia NOS |
dementia NOS | ||||
| III.4 | 9 | dementia NOS |
dementia NOS | ||||
| III.5 | >2 | dementia NOS |
dementia NOS | ||||
| III.6 | * | dementia NOS |
dementia NOS | ||||
| III.7 | 5 | dementia NOS |
dementia NOS | ||||
| III.8 | 7 | dementia NOS |
dementia NOS | ||||
| III.9 | 3 | AD | AD | FTLD-U NII | c.1477C>T | ||
| IV.1 | 1 (MVA) | not Dx | not Dx | ||||
| V.1 (P) | 6 | FTD | FTD | c.1477C>T | |||
| Kindred 4 | I.1 | 5 | PD | PD | |||
| II.1 (P) | 13 | PD | PD + D | FTLD-U NII + LBD |
c.910_911insTG | ||
| II.2 | 7 | dementia NOS |
dementia NOS | ||||
| II.3 | 8 | FTD | FTD | FTLD-U NII | c.910_911insTG | ||
| II.4 | * | PD | PD + dementia NOS |
||||
| II.5 | * | PD | PD | ||||
| Kindred 5 | I.1 | 13 | dementia NOS |
dementia NOS | |||
| II.1 | 7 | dementia NOS |
dementia NOS | ||||
| III.1 (P) | 7 | AD | FTD | FTLD-U NII | c.138+1G>A | Boeve et al, 2006 | |
| Kindred 6 | I.1 | 5 | dementia NOS |
dementia NOS | |||
| II.1 (P) | 5 | FTD | FTD | FTLD-U NII | c.1395_1396insC | ||
| Kindred 7 | II.1 | 12 | PPA | PPA | Mesulam et al, 2007 | ||
| II.3 | 4 | PPA | PPA | FTLD-U NII | c.998delG | Mesulam et al, 2007 | |
| II.4 (P) | 8 | PPA | PPA | FTLD-U NII | c.998delG | Mesulam et al, 2007 | |
| Kindred 8 | I.1 | 14 | aphasia | aphasic dementia | |||
| III.1 (P) | >4 | PPA | PPA | c.26C>A | |||
| III.2 | * | aphasia | aphasic dementia |
Abbreviations: AD=Alzheimer’s disease; CBS=corticobasal syndrome; dep=depression, DLB=dementia with Lewy bodies; FTD=frontotemporal dementia; FTDP=frontotemporal dementia and parkinsonism; FTLD-U NII=frontotemporal lobar degeneration with ubiquitin positive inclusions and neuronal intranuclear inclusions; LBD=Lewy body disease; MCI=mild cognitive impairment; MVA=motor vehicle accident; NOS=not otherwise specified; not Dx=not diagnosed; park=parkinsonism; PD=Parkinson’s disease; PPA=primary progressive aphasia; VD=vascular dementia; * = unknown, (P)=proband