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Table 1 Selected clinical and pathological details of cases investigated by dipeptide immunostaining

From: Dipeptide repeat proteins are present in the p62 positive inclusions in patients with frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72

Case M/F Clinical diagnosis Pathological diagnosis Family history Onset (y) Duration (y) Brain weight (g)
1 M FTD FTLD-TDP type A 2 brothers, 2 sisters FTD 49 9 1050
2 M FTD FTLD-TDP type A brother MND**, mother and grandmother FTD 60 8 1210
3 F FTD FTLD-TDP type A none available 59 5 1140
4 M FTD FTLD-TDP type A father dementia 64 8 1100
5 M FTD FTLD-TDP type A father similar presentation, paternal grandmother 'AD’ 63 2 na 
6 M FTD FTLD-TDP type A yes 78 4 1200
7 M FTD + MND FTLD-TDP type B ?paternal aunt said to be 'strange’ 60 2 na
8 M FTD + MND FTLD-TDP type B mother FTD 57 2 1210
9 M FTD FTLD-TDP type B mother dementia 54 12 na
10 F FTD FTLD-TDP type B mother and sister FTD 51 19 na
11 F FTD + MND FTLD-TDP type B father 'AD’, sister MND, paternal nephew MND 63 2 na
12 F FTD + MND FTLD-TDP type B sister MND, brother FTD, mother 'multiple sclerosis’ 68 5 1363
13 M FTD Corticobasal degeneration father and 5 sisters had Huntington’s disease 59 70 1271
14 M MND MND brother FTD**, mother and grandmother FTD 60 5 1350
15 F MND MND none available 40 5 1330
16 M MND MND brother MND, sister FTD + MND 53 2 1250
17 M FTD FTLD-tau Pi none 69 6 na
18 F FTD FTLD-tau MAPT +16 mother: early onset dementia; brother: MND 48 15 1100
19 M Corticobasal Syndrome FTLD-tau CBD none 65 na 1020
20 M FTD FTLD-TDP A mother AD, brother AD (but with behavioural problems) 66 7 980
21 F FTD + MND FTLD-TDP B none available 50 2 1050
22 F SD FTLD-TDP C none 70 2 1522
23 F Alzheimer’s disease Alzheimer’s disease none 74 12 1220
24 M Huntington’s disease Huntington’s disease none available 48 24 na
25 M Huntington’s disease Huntington’s disease none available 56 19 1340
26 M Normal Normal control none 54* na 1720
27 F Normal Normal control none 53* na 1220
  1. FTD = Frontotemporal dementia; MND = Motor Neurone Disease; SD = semantic dementia; FTLD = Frontotemporal Lobar Degeneration; na = data not available/applicable; * = age at death; ** = cases #2 and 14 were brothers.