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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