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. 2012 May 11;33(9):1340–1344. doi: 10.1002/humu.22117

Table 1.

Genes Catalogued in the AD&FTLD and PD Mutation Databases

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
a

Journal article or personal communication.