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. Author manuscript; available in PMC: 2015 Oct 5.
Published in final edited form as: Neuropathology. 2015 Jan 26;35(4):354–389. doi: 10.1111/neup.12189

Table 6.

Genetic mutations and polymorphisms: results for autopsied cases

Genetic polymorphism or mutation No. screened No. positive (%)
Apolipoprotein E –ε4 1302 524 (40)
LRRK2 – G2019S polymorphism screened 237 3 (1.3)
Glucocerebrosidase (GBA) – all exons screened 247 18 (7.3)
Tau (MAPT) – screen of exons 1 and 9–13 45 3 (1.3)
Presenilin 1 – mutation screen 7 4 (57)
Progranulin (GRN) – screen of exons 1–13 31 4 (12.9)
C9orf72 – expansion screen 21 5 (24)
TDP43 (TARDBP) 1 0
Valosin-containing protein (VCP) 1 0
Charged multivesicular body protein 2B (CHMP2B) 1 0