Clinical and biomarker investigation of a patient with a novel presenilin-1 mutation (A431V) in the mild cognitive impairment stage of Alzheimer's Disease

Biological Psychiatry

Volumn 52, Issue 9, 2002, Pages 907-910

  Matsushita, Sachio ^a   Arai, Hiroyuki ^b   Okamura, Nobuyuki ^b   Ohmori, Tomohiro ^a   Takasugi, Keiichi ^a   Matsui, Toshifumi ^b   Maruyama, Masahiro ^b   Iwatsubo, Takeshi ^c   Higuchi, Susumu ^a  

^a KURIHAMA NATIONAL HOSPITAL   (Japan)

^b TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c UNIVERSITY OF TOKYO   (Japan)

Author keywords

Alzheimer's disease; Cerebral glucose metabolism; Cerebrospinal fluid; Mild cognitive impairment; Phosphorylated tau; Presenilin 1 mutation

Indexed keywords

ALANINE; PRESENILIN 1; VALINE;

ADULT; ALZHEIMER DISEASE; ARTICLE; BIOACCUMULATION; CASE REPORT; CEREBROSPINAL FLUID; CINGULATE GYRUS; COGNITIVE DEFECT; DISEASE COURSE; GENE MUTATION; HUMAN; MALE; NERVE CELL NECROSIS; PATHOLOGY; PRIORITY JOURNAL;

ALZHEIMER DISEASE; COGNITION DISORDERS; FLUORODEOXYGLUCOSE F18; GENETIC MARKERS; GLUCOSE; GYRUS CINGULI; HUMANS; MALE; MEMBRANE PROTEINS; MIDDLE AGED; NEUROPSYCHOLOGICAL TESTS; POINT MUTATION; POLYMERASE CHAIN REACTION; PRESENILIN-1; RADIOPHARMACEUTICALS; SEVERITY OF ILLNESS INDEX; TOMOGRAPHY, EMISSION-COMPUTED;

EID: 0036839412     PISSN: 00063223     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0006-3223(02)01386-0     Document Type: Article

References (16)

1. Fox N.C., Kennedy A.M., Harvey R.J., Lantos P., Roques P.K., Collinge J., et al. Clinicopathological features of familial Alzheimer's disease associated with the M139V mutation in the presenilin 1 gene. Brain. 120:1997;491-501.
2. Hattori M., Tsukahara F., Furuhata Y., Tanahashi H., Hirose M., Saito M., et al. A novel method for making nested deletions and its application for sequencing of a 300 kb region of human APP locus. Nucleic Acids Res. 25:1997;1802-1808.
3. Higuchi M., Tashiro M., Arai H., Okamura N., Hara S., Higuchi S., et al. Glucose hypometabolism and neuropathological correlates in brains of dementia with Lewy bodies. Exp Neurol. 162:2000;247-256.
4. Higuchi S., Yoshino A., Matsui T., Matsushita S., Satoh A., Iimura T., et al. A novel PS1 mutation (W165G) in a Japanese family with early-onset Alzheimer's disease. Alzheimer's Rep. 3:2000;227-231.
5. Hong K.S., Kim P., Na D.L., Kim J.G., Suh Y.-L., Kim S.E., et al. Clinical and genetic analysis of a pedigree of a thirty-six-year-old familial Alzheimer's disease patient. Biol Psychiatry. 42:1997;1172-1176.
6. Hüll M., Fiebich B.L., Dykierek P., Schmidtke K., Nitzsche E., Orszagh M., et al. Early-onset Alzheimer's disease due to mutations of the presenilin-1 gene on chromosome 14 A 7-year follow-up of a patient with a mutation at codon 139 . Eur Arch Psychiatry Clin Neurosci. 14:1998;123-129.
7. Itoh N., Arai H., Urakami K., Ishiguro K., Ohno H., Hampel H., et al. Large scale, multicenter study of cerebrospinal fluid tau protein phosphorylated at serine 199 for the antemortem diagnosis of Alzheimer's disease. Ann Neurol. 50:2001;150-156.
8. Johnson K.A., Lopera F., Jones K., Becker A., Sperling R., Hilson J., et al. Presenilin-1-associated abnormalities in regional cerebral perfusion. Neurology. 56:2001;1545-1551.
9. Levy-Lahad E., Wasco W., Poorkaj P., Romano D.M., Oshima J., Pettingell W.H., et al. Candidate gene for the chromosome 1 familial Alzheimer's disease locus. Science. 269:1995;973-977.
10. Lippa C.F., Nee L.E., Mori H., St. George-Hyslop P. Aβ-42 deposition precedes other changes in PS-1 Alzheimer's disease. Lancet. 352:1998;1117-1118.
11. 1-42 in the mild cognitive impairment stage of Alzheimer's disease. Exp Neurol. 172:2001;433-436.
12. McKhann G., Drachman D., Folstein M., Katzman R., Price D., Stadlan E.M. Clinical diagnosis of Alzheimer's disease Report of the NINCDS-ADRDA Work Group under the auspices of Department of Health and Human Services Task Force on Alzheimer's Disease . Neurology. 34:1984;939-944.
13. 1-42, but not tau have positive correlation with brain glucose metabolism in humans. Neurosci Lett. 272:1999;201-207.
14. Petersen R.C., Smith G.E., Waring S.C., Ivnik R.J., Tangalos E.G., Kokmen E. Mild cognitive impairment Clinical characterization and outcome . Arch Neurol. 56:1999;303-308.
15. Rogaev E.I., Sherrington R., Wu C., Levesque G., Liang Y., Rogaeva E.A., et al. Analysis of the 5′ sequence, genomic structure, and alternative splicing of the presenilin-1 gene (PSEN1) associated with early onset Alzheimer disease. Genomics. 40:1997;415-424.
16. Rogaeva E.A., Fafel K.C., Song Y.Q., Medeiros H., Sato C., Liang Y., et al. Screening for PS1 mutations in a referral-based series of AD cases. 21 novel mutations. Neurology. 57:2001;621-625.