Table 1.
Primary disease | Gene | Genomic location | Mutations (clinical/unclear/ benign coding) | Unrelated individuals or families | Referencesa |
---|---|---|---|---|---|
AD | APP | 21q21.2 | 32/1/6 | 90 | 86 |
PSEN1 | 14q24.3 | 185/8/4 | 411 | 217 | |
PSEN2 | 1q42.13 | 13/7/5 | 34 | 39 | |
FTLD | C9orf72 | 9p21.2 | 1/0/0 | 336 | 5 |
CHMP2B | 3p11.2 | 4/4/4 | 12 | 11 | |
FUS | 16p11.2 | 23/4/18 | 54 | 15 | |
GRN | 17q21.32 | 69/35/45 | 264 | 89 | |
MAPT | 17q21.1 | 44/2/27 | 138 | 172 | |
TARDBP | 1p36.22 | 34/2/9 | 95 | 26 | |
VCP | 9p13.3 | 17/2/0 | 45 | 26 | |
PD | LRRK2 | 12q12 | 6/68/54 | 1,051 | 176 |
PARK2 | 6q26 | 127/65/22 | 777 | 164 | |
PARK7 | 1p36.23 | 6/17/5 | 31 | 26 | |
PINK1 | 1p36 | 28/80/30 | 190 | 69 | |
SNCA | 4q22.1 | 25/1/1 | 51 | 49 | |
Total | 14 | 614/296/230 | 3,579 | 1,127 |
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