Table 1 Families with FTD linked to chromosome 17q21 without tau mutations.
From: Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17)
Author | Froelich et al. [7] | Rosso et al. [8] | Lendon et al. [9]* | Rademakers et al. [10] | Kertesz et al. [11] | Bird et al. [12]†|
|---|---|---|---|---|---|---|
| Â | Karolinska | Dutch III | HDDD2 | 1083 | Kertesz | Seattle B |
Pedigree | Â | Â | Â | Â | Â | Â |
Origin | Sweden | Germany | USA | Netherlands | Canada | USA |
No. of FA/G/AI | 20/4/11 | NA/4/32 | >10,000/8/24 | 73/4/16 | 30/4/10 | 52/4/18 |
Mean ± SD age at onset, y | 51 ± 3.6 | 61.2 ± 8.8 | 60.4 ± 0.5 | 64.9 ± 8.9 | 63.4 ± 12.5 | 54.7 ± 7.5 |
Mean ± SD disease duration, y | 2.9 ± 0.8 | 8.6 ± 2.9 | 6.9 ± 2.2 | 6.6 ± 2.6 | 4.0 ± 2.7 | 10.1 ± 5.2 |
Clinical characteristics | Â | Â | Â | Â | Â | Â |
   Initial sign | D | D/PC | D | D/PC | PC | PC (PS) |
   Dementia | + | + | + | + | + | + |
   Other features | Apraxia, dysphagia | LD | LD, EP, hemiparesis | LD | LD, dysphagia | Myoclonus |
Predominant clinical phenotype | FTD | FTD | FTD (HDD) | FTD | FTD (Pick complex) | FTD |
Pathologic findings | Severe frontal lobe degeneration with spongy changes and gliosis | Severe frontal lobe degeneration with neuronal loss and gliosis Neuronal loss in the hippo-campus | Severe frontal lobe degeneration with neuronal loss and gliosis Neuronal loss in the hippocampus | Frontotemporal degeneration with neuronal loss and gliosis | Frontotemporal lobe degeneration | Tau-positive NFT in the neocortex and limbic system |
Ubiquitin-positive neuronal intranuclear inclusions | + | + | NR | + | + | NR |
Max lod score for chromosome 17q21 | 2.68 | 3.46 | 3.68 | 5.51 | 1.68 | 1.11 |