TY - JOUR
T1 - Clinical and biomarker investigation of a patient with a novel presenilin-1 mutation (A431V) in the mild cognitive impairment stage of Alzheimer's Disease
AU - Matsushita, Sachio
AU - Arai, Hiroyuki
AU - Okamura, Nobuyuki
AU - Ohmori, Tomohiro
AU - Takasugi, Keiichi
AU - Matsui, Toshifumi
AU - Maruyama, Masahiro
AU - Iwatsubo, Takeshi
AU - Higuchi, Susumu
PY - 2002/11/1
Y1 - 2002/11/1
N2 - We report an individual who developed Alzheimer's disease (AD) due to a novel presenilin-1 mutation (Alanine→Valine at codon 431). When he first presented, the patient met criteria for mild cognitive impairment but progressed over 16 months to fulfill diagnostic criteria of AD. At his first presentation, he showed widespread metabolic deficits in the posterior cingulate, lateral parietal, posterior parietal, and medial temporal regions on positron emission tomography as well as elevated tau and phospho-tau levels in cerebrospinal fluid (CSF). We suggest that functional neuroimaging and CSF biomarkers can serve as useful predictors of development of AD. Accumulation of pathologic tau isoforms and neuron death occur even in the mildest clinical stages of AD.
AB - We report an individual who developed Alzheimer's disease (AD) due to a novel presenilin-1 mutation (Alanine→Valine at codon 431). When he first presented, the patient met criteria for mild cognitive impairment but progressed over 16 months to fulfill diagnostic criteria of AD. At his first presentation, he showed widespread metabolic deficits in the posterior cingulate, lateral parietal, posterior parietal, and medial temporal regions on positron emission tomography as well as elevated tau and phospho-tau levels in cerebrospinal fluid (CSF). We suggest that functional neuroimaging and CSF biomarkers can serve as useful predictors of development of AD. Accumulation of pathologic tau isoforms and neuron death occur even in the mildest clinical stages of AD.
KW - Alzheimer's disease
KW - Cerebral glucose metabolism
KW - Cerebrospinal fluid
KW - Mild cognitive impairment
KW - Phosphorylated tau
KW - Presenilin-1 mutation
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U2 - 10.1016/S0006-3223(02)01386-0
DO - 10.1016/S0006-3223(02)01386-0
M3 - Article
C2 - 12399144
AN - SCOPUS:0036839412
SN - 0006-3223
VL - 52
SP - 907
EP - 910
JO - Biological Psychiatry
JF - Biological Psychiatry
IS - 9
ER -