title: Cerebrospinal fluid levels of phosphorylated tau and Aβ1-38/Aβ1-40/Aβ1-42 in Alzheimer's disease with PS1 mutations.
abstract: We studied seven cases of Alzheimer's disease (AD). Six of the patients had presenilin 1 (PS1) mutations (PS1AD). Three novel PS1 mutations (T99A, H131R and L219R) and three other missense mutations (M233L, H163R and V272A) were found in the PS1AD group. We measured the levels of phosphorylated tau (ptau-181, ptau-199) and Aβ (Aβ1-42, Aβ1-40 and Aβ1-38) in the cerebrospinal fluid (CSF) of PS1AD patients, early-onset sporadic AD (EOSAD), late-onset sporadic AD (LOSAD) and non-demented subjects (ND). The CSF levels of Aβ1-42 in the three AD groups were significantly lower than those of the ND group (p < 0.0001). CSF levels of Aβ1-42 in the PS1AD group were significantly lower than those in the two sporadic AD groups. The Aβ1-40 and Aβ1-38 levels in the CSF of the PS1AD group were significantly lower than those of the three other groups (p < 0.0001, respectively). The levels of Aβ1-40, Aβ1-38 and Aβ1-42 in the CSF of the PS1AD group remained lower than those of the ND group for 4 years. Not only CSF Aβ1-42, but also Aβ1-40 and Aβ1-38 decreased in the advanced stages of PS1AD.
authors: Department of Neurology, Gunma University Graduate School of Medicine, Maebashi, Gunma, Japan. mikeda@med.gunma-u.ac.jp
authors: Masaki
authors: M
authors: Ikeda
authors: Kimie
authors: K
authors: Yonemura
authors: Satoko
authors: S
authors: Kakuda
authors: Yuichi
authors: Y
authors: Tashiro
authors: Yukio
authors: Y
authors: Fujita
authors: Eriko
authors: E
authors: Takai
authors: Yukiko
authors: Y
authors: Hashimoto
authors: Kouki
authors: K
authors: Makioka
authors: Natsumi
authors: N
authors: Furuta
authors: Koichi
authors: K
authors: Ishiguro
authors: Risa
authors: R
authors: Maruki
authors: Jun'ichi
authors: J
authors: Yoshida
authors: Osamu
authors: O
authors: Miyaguchi
authors: Tamao
authors: T
authors: Tsukie
authors: Ryouzou
authors: R
authors: Kuwano
authors: Tsuneo
authors: T
authors: Yamazaki
authors: Haruyasu
authors: H
authors: Yamaguchi
authors: Masakuni
authors: M
authors: Amari
authors: Masamitsu
authors: M
authors: Takatama
authors: Yasuo
authors: Y
authors: Harigaya
authors: Koichi
authors: K
authors: Okamoto
mesh_terms: D000328:Adult; D000544:Alzheimer Disease / Q000134:cerebrospinal fluid* / Q000235:genetics*; D016229:Amyloid beta-Peptides / Q000134:cerebrospinal fluid*; D053329:Apolipoprotein E2 / Q000235:genetics; D015415:Biomarkers / Q000134:cerebrospinal fluid*; D003704:Dementia / Q000134:cerebrospinal fluid / Q000235:genetics; D004797:Enzyme-Linked Immunosorbent Assay; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010766:Phosphorylation; D053764:Presenilin-1 / Q000235:genetics*; D016875:tau Proteins / Q000134:cerebrospinal fluid*
chemical_list: D016229:Amyloid beta-Peptides; D053329:Apolipoprotein E2; D015415:Biomarkers; D053764:Presenilin-1; D016875:tau Proteins