Table 1.
Pathological, clinical and genetic info of human brain samples used
| |
|
Clinical info |
Genetic info |
||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Origin | Pathological diagnosis*1 | Clinical diagnosis | Sub-class | Gender | Age at onset | Age at death | Fam/Spor | Pathogenic Mutation | TMEM106B rs19906222 | GRN rs58483 | C9ORF72 | SORT14 | RNA quality ok |
| VIB |
Def. Control |
N.A. |
N.A. |
m |
N.A. |
78.1 |
N.A. |
N.A. |
CT |
CC |
no |
AG |
yes |
| VIB |
Def. Control |
N.A. |
N.A. |
m |
N.A. |
66.3 |
N.A. |
N.A. |
CT |
CC |
no |
AA |
yes |
| VIB |
Def. Control |
N.A. |
N.A. |
m |
N.A. |
73.3 |
N.A. |
N.A. |
TT |
TC |
no |
AA |
yes |
| VIB |
Def. Control |
N.A. |
N.A. |
f |
N.A. |
62.7 |
N.A. |
N.A. |
TT |
TC |
no |
AA |
yes |
| VIB |
Def. Control |
N.A. |
N.A. |
m |
N.A. |
64.6 |
N.A. |
N.A. |
CT |
TT |
no |
AG |
yes |
| MRC |
Def. Control |
N.A. |
N.A. |
m |
N.A. |
77 |
N.A. |
N.A. |
CC |
TC |
no |
AG |
yes |
| MRC |
Def. Control |
N.A. |
N.A. |
m |
N.A. |
66 |
N.A. |
N.A. |
CT |
CC |
no |
AG |
yes |
| MRC |
Def. Control |
N.A. |
N.A. |
m |
N.A. |
54 |
N.A. |
N.A. |
TT |
CC |
no |
AA |
yes |
| MRC |
Def. Control |
N.A. |
N.A. |
m |
N.A. |
59 |
N.A. |
N.A. |
TT |
TC |
no |
AG |
yes |
| MRC |
Def. Control |
N.A. |
N.A. |
m |
N.A. |
55 |
N.A. |
N.A. |
CC |
CC |
no |
AA |
yes |
| MRC |
Def. Control |
N.A. |
N.A. |
m |
N.A. |
67 |
N.A. |
N.A. |
CT |
TC |
no |
AA |
yes |
| MRC |
Def. Control |
N.A. |
N.A. |
m |
N.A. |
78 |
N.A. |
N.A. |
CT |
CC |
no |
AA |
yes |
| MRC |
Def. Control |
N.A. |
N.A. |
m |
N.A. |
79 |
N.A. |
N.A. |
TT |
TC |
no |
AG |
yes |
| MRC |
Def. Control |
N.A. |
N.A. |
m |
N.A. |
50 |
N.A. |
N.A. |
TT |
CC |
no |
AA |
yes |
| MRC |
Def. Control |
N.A. |
N.A. |
m |
N.A. |
82 |
N.A. |
N.A. |
CT |
CC |
no |
AG |
yes |
| VIB |
FTLD-TDP |
MXD |
N.A. |
m |
72 |
83 |
S |
no |
CT |
CC |
no |
AA |
yes |
| VIB |
FTLD-TDP B |
FTLD |
FTD |
m |
47 |
50 |
F |
no |
CT |
CC |
no |
AG |
yes |
| VIB |
FTLD-TDP |
FTLD |
prob AD |
f |
80 |
88 |
F |
no |
CT |
TT |
no |
AA |
yes |
| VIB |
FTLD-TDP B |
FTLD-ALS |
FTD-ALS |
m |
59 |
62 |
S |
no |
CT |
CT |
no |
AG |
yes |
| VIB |
FTLD-TDP D |
FTLD |
FTD |
f |
44 |
56 |
F-AD |
VCP Arg159His5 |
TT |
TC |
no |
AA |
yes |
| VIB |
FTLD-TDP D |
FTLD |
FTD |
m |
63 |
68 |
F-AD |
VCP Arg159His5 |
CT |
TT |
no |
AA |
yes |
| VIB |
FTLD-TDP A |
FTLD |
N.A. |
f |
62 |
68 |
F-AD |
GRN IVS1 + 5G > C6 |
CT |
TC |
no |
AA |
yes |
| VIB |
FTLD-TDP A |
FTLD |
N.A. |
f |
58 |
63 |
F-AD |
GRN IVS1 + 5G > C6 |
TT |
TC |
no |
AG |
yes |
| VIB |
FTLD-TDP A |
FTLD |
N.A. |
m |
57 |
62 |
F-AD |
GRN IVS1 + 5G > C6 |
CT |
TC |
no |
AG |
yes |
| VIB |
FTLD-TDP A |
FTLD |
FTD |
f |
69 |
75 |
F-AD |
GRN IVS1 + 5G > C6 |
TT |
TC |
no |
AA |
yes |
| MRC |
FTLD-TDP B |
FTLD |
FTD + MND |
m |
43 |
45 |
S |
no |
CT |
CC |
no |
AG |
yes |
| MRC |
FTLD-TDP B |
FTLD |
FTD + MND |
m |
65 |
67 |
S |
no |
CC |
CC |
no |
AG |
yes |
| MRC |
FTLD-TDP B |
FTLD |
FTD + MND |
m |
74 |
76 |
S |
no |
TT |
TC |
no |
AG |
no |
| MRC |
FTLD-TDP B |
FTLD |
FTD |
m |
60 |
68 |
S |
no |
TT |
CC |
no |
AA |
yes |
| MRC |
FTLD-TDP B |
FTLD |
FTD |
m |
45 |
51 |
S |
no |
CT |
TT |
no |
AG |
yes |
| MRC |
FTLD-TDP B |
FTLD |
FTD |
m |
59 |
66 |
S |
no |
TT |
CC |
no |
AA |
yes |
| MRC |
FTLD-TDP B |
FTLD |
FTD + MND |
m |
58 |
69 |
S |
no |
CC |
CC |
no |
AA |
yes |
| MRC |
FTLD-TDP B |
FTLD |
FTD |
m |
58 |
66 |
S |
no |
CT |
CC |
no |
AG |
no |
| MRC |
FTLD-TDP B |
FTLD |
FTD/SD |
m |
68 |
74 |
S |
no |
TT |
CC |
no |
AA |
yes |
| MRC |
FTLD-TDP B |
FTLD |
MND |
m |
N.A. |
71 |
S |
N.A. |
TT |
TC |
no |
AA |
no |
| VIB |
AD-CAA |
Prob AD |
|
f |
61 |
75 |
F |
APP -369C/G7 |
CT |
CC |
no |
AG |
yes |
| VIB |
AD |
Prob AD |
|
f |
- |
85 |
S |
no |
CT |
TC |
no |
AA |
no |
| VIB |
AD |
Prob AD |
|
m |
80 |
86 |
S |
no |
TT |
TC |
no |
AG |
yes |
| VIB |
AD |
Prob AD |
|
m |
87 |
91 |
U |
no |
CC |
CC |
no |
AG |
yes |
| VIB |
AD |
Prob AD |
|
m |
67 |
77 |
F |
no |
TT |
TC |
no |
AG |
yes |
| VIB |
AD |
Prob AD |
|
f |
64 |
79 |
S |
no |
CT |
TT |
no |
AA |
no |
| VIB |
AD |
Poss AD |
|
m |
<84 |
87 |
S |
no |
CT |
CC |
no |
AA |
yes |
| VIB |
AD |
Prob AD |
|
f |
50 |
57 |
F |
PSEN1 P264L8 |
TT |
TC |
no |
AA |
yes |
| MRC |
PD |
PD |
|
f |
45 |
62 |
N.A. |
N.A. |
CC |
CC |
no |
AA |
yes |
| MRC |
PD |
Dementia |
|
f |
~84 |
89 |
N.A. |
N.A. |
CT |
TC |
no |
AA |
yes |
| MRC |
PD |
PD |
|
f |
~80 |
85 |
N.A. |
N.A. |
CC |
CC |
no |
AG |
yes |
| MRC |
PD |
PD |
|
m |
? |
73 |
N.A. |
N.A. |
CC |
CC |
no |
AG |
yes |
| MRC |
PD |
? |
|
m |
? |
76 |
N.A. |
N.A. |
CC |
CC |
no |
AA |
yes |
| MRC |
PD |
PD |
|
f |
76 |
80 |
N.A. |
N.A. |
CT |
TC |
no |
AG |
yes |
| MRC |
PD |
PD |
|
m |
66 |
79 |
N.A. |
N.A. |
CT |
TC |
no |
AA |
yes |
| MRC | PD | PD?/AD | m | 82 | 84 | N.A. | N.A. | CT | TC | no | AA | yes | |
* according to current classification criteria as proposed in [28],
1[29],
2[30],
3[31],
4(van der Zee J. et al., unpublished data),
5[32],
6[10],
7[33],
8[34]
AD Alzheimer’s disease, ALS amyothropic lateral sclerosis, APP amyloid precursor protein, CAA Cerebral Amyloid Angiopathy, F familial, F-AD familial autosomal dominant, IVS splice donor site of intron 1 MND motorneuron disease, MRC Medical Research Council London Neurodegenerative Diseases Brain Bank, MXD mixed dementia, N.A. not applicable, PD Parkinson’s disease, Prob probably, Poss possibly, S sporadic, SD semantic dementia, PSEN1 presenilin 1, U unknown, VIB VIB Department of Molecular Genetics, Antwerp, Belgium.