PMID: 25174650

Ghani M, Lang AE, Zinman L, Nacmias B, Sorbi S, Bessi V, Tedde A, Tartaglia MC, Surace EI, Sato C, Moreno D, Xi Z, Hung R, Nalls MA, Singleton A, St George-Hyslop P, Rogaeva E
Mutation analysis of patients with neurodegenerative disorders using NeuroX array.
Neurobiol Aging. 2015 Jan;36(1):545.e9-14. doi: 10.1016/j.neurobiolaging.2014.07.038. Epub 2014 Aug 1., [PubMed]
Sentences
No. Mutations Sentence Comment
5 ABCA7 p.Leu400Val
X
ABCA7 p.Leu400Val 25174650:5:97
status: NEW
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 In total, we identified 78 potentially damaging rare variants (frequency <1%), including ABCA7 p.L400V in a family with Alzheimer`s disease and LRRK2 p.R1514Q in 6 of 98 patients with Parkinson`s disease (6.1%). Login to comment 83 ABCA7 p.Leu400Val
X
ABCA7 p.Leu400Val 25174650:83:32
status: NEW
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 (B) FLO61 with the rare ABCA7 p.L400V variant (C > G). Login to comment 99 ABCA7 p.Glu316Lys
X
ABCA7 p.Glu316Lys 25174650:99:148
status: NEW
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 For instance, in PD patient 4033 with known heterozygous duplication of PARK2 exon 5 (age of onset 40 years) we also detected MAPT p.P140S, ABCA7 p.E316K, and TREM2 p.H157Y. Login to comment 104 ABCA7 p.Leu400Val
X
ABCA7 p.Leu400Val 25174650:104:82
status: NEW
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 Two AD cases from Italian FLO61 family had an extremely rare heterozygous ABCA7 p.L400V variant absent in the ESP and 1000Genomes databases. Login to comment 125 ABCA7 p.Leu400Val
X
ABCA7 p.Leu400Val 25174650:125:59
status: NEW
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 For instance, rare variants in 2 AD-related genes (ABCA7 p.L400V and ZCWPW1 p.H351R) were observed in 2 related AD patients. Login to comment