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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]
  Karolinska Dutch III HDDD2 1083 Kertesz Seattle B
Pedigree       
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       
   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
  1. +, present; AI, affected individual; D, dementia; EP, extrapyramidal signs; FA, family member; FTD, frontotemporal dementia; G, generation; HDD, hereditary dysphasic dementia; LD, language difficulties; NA, not available; NFT, neurofibrillary tangles; NR, not reported; PC, personality change; PS, psychiatric symptom.
  2. *Data are from individuals with some form of dementia in recent generations of the family