PMID: 8945747Nov 1, 1996Paper

Sequence analysis of presenilin-1 gene mutation in Japanese Alzheimer's disease patients

Neuroscience Letters
H TanahashiT Tabira

Abstract

The mutations of presenilins (PSs) gene and their clinicopathological correlations to Alzheimer's disease (AD) have lately attracted considerable attention. In this report we analyzed fifteen Japanese familial Alzheimer's disease (FAD) including 12 early-onset FAD and 13 sporadic AD patients for the mutation of PS-1 gene by direct sequence analysis. We found the mutations, G384A, E280A in two FAD and H163R in one sporadic AD patient, and no N1411 or M239V mutation in PS-2 gene, and no mutation in exons 16 and 17 in amyloid precursor protein (APP) gene. Families in which we failed to find the mutation by this screening may have mutations elsewhere in PSs or in APP gene, or yet unidentified other AD loci may exist. This is the first report to find a sporadic AD patient having PS-1 mutation.

References

Dec 1, 1992·Nature Genetics·P St George-HyslopD Crapper McLachlan
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May 1, 1994·Nature Genetics·K OkuizumiS Naruse

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Citations

Nov 6, 1998·Journal of the Neurological Sciences·K KamimuraT Tabira
Apr 18, 1998·Biochimica Et Biophysica Acta·H Tanahashi, T Tabira
Apr 14, 1999·Psychiatry and Clinical Neurosciences·K KosakaH Arai
Sep 26, 2000·Human Molecular Genetics·H Tanahashi, T Tabira
Sep 12, 2007·Cognitive and Behavioral Neurology : Official Journal of the Society for Behavioral and Cognitive Neurology·Christopher M FilleyBernardino Ghetti
Mar 19, 1999·Biochemical and Biophysical Research Communications·Y TomidokoroM Shoji
Jun 26, 2015·Der Nervenarzt·J Diehl-Schmid, K Oexle
Mar 17, 2001·Nature Reviews. Molecular Cell Biology·H Steiner, C Haass
Apr 1, 1998·Human Mutation·M Cruts, C Van Broeckhoven
Sep 29, 2019·International Journal of Molecular Sciences·Vo Van GiauSangYun Kim
Jul 21, 2012·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Petra E Cohn-HokkeJohn C van Swieten
May 18, 1999·Biochemical and Biophysical Research Communications·H Tanahashi, T Tabira

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