Table 1

Families with FTD linked to chromosome 17q21 without tau mutations.
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

+, 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.

*Data are from individuals with some form of dementia in recent generations of the family

Wszolek et al. Orphanet Journal of Rare Diseases 2006 1:30   doi:10.1186/1750-1172-1-30