A pedigree of familial alzheimer disease with spastic paraplegia carrying a novel presenilin-1 mutation

2017 ◽  
Vol 381 ◽  
pp. 1134-1135 ◽  
Author(s):  
Y. Oi ◽  
M. Itani ◽  
H. Hasegawa ◽  
T. Maki ◽  
A. Kuzuya ◽  
...  
Keyword(s):  
Alzheimer Disease ◽  
Presenilin 1 ◽  
Spastic Paraplegia ◽  
Familial Alzheimer Disease ◽  
Presenilin 1 Mutation

A novel presenilin 1 mutation (Ala275Val) as cause of early-onset familial Alzheimer disease

2014 ◽  
Vol 566 ◽  
pp. 115-119 ◽  
Author(s):  
Daniel Luedecke ◽  
Jos S. Becktepe ◽  
Jan T. Lehmbeck ◽  
Ulrich Finckh ◽  
Raina Yamamoto ◽  
...  
Keyword(s):  
Alzheimer Disease ◽  
Early Onset ◽  
Presenilin 1 ◽  
Familial Alzheimer Disease ◽  
Presenilin 1 Mutation

scholarly journals A novel presenilin 1 mutation (L174 M) in a large Cuban family with early onset Alzheimer disease

Neurogenetics ◽  
2002 ◽  
Vol 4 (2) ◽  
pp. 97-104 ◽  
Author(s):  
A. Bertoli Avella ◽  
B. Marcheco Teruel ◽  
J. Llibre Rodriguez ◽  
N. Gomez Viera ◽  
I. Borrajero Martinez ◽  
...  
Keyword(s):  
Alzheimer Disease ◽  
Early Onset ◽  
Presenilin 1 ◽  
Presenilin 1 Mutation

scholarly journals Overexpression in Neurons of Human Presenilin-1 or a Presenilin-1 Familial Alzheimer Disease Mutant Does Not Enhance Apoptosis

1998 ◽  
Vol 18 (23) ◽  
pp. 9790-9799 ◽  
Author(s):  
Sherry Bursztajn ◽  
Richard DeSouza ◽  
Donna L. McPhie ◽  
S. A. Berman ◽  
Junichi Shioi ◽  
...  
Keyword(s):  
Alzheimer Disease ◽  
Presenilin 1 ◽  
Familial Alzheimer Disease

A presenilin-1 mutation causes Alzheimer disease without affecting Notch signaling

2018 ◽  
Vol 25 (3) ◽  
pp. 603-613 ◽  
Author(s):  
Shuting Zhang ◽  
Fang Cai ◽  
Yili Wu ◽  
Tahereh Bozorgmehr ◽  
Zhe Wang ◽  
...  
Keyword(s):  
Alzheimer Disease ◽  
Notch Signaling ◽  
Presenilin 1 ◽  
Presenilin 1 Mutation

Multimodal Imaging in a Patient With Alzheimer Disease and Parkinsonism Because of a Presenilin-1 Mutation

2021 ◽  
Vol Publish Ahead of Print ◽  
Author(s):  
Jia-Ying Lu ◽  
Yi-Min Sun ◽  
Tzu-Chen Yen ◽  
Chuan-Tao Zuo ◽  
Jian Wang
Keyword(s):  
Alzheimer Disease ◽  
Multimodal Imaging ◽  
Presenilin 1 ◽  
Presenilin 1 Mutation

scholarly journals Presenilin1 familial Alzheimer disease mutants inactivate EFNB1- and BDNF-dependent neuroprotection against excitotoxicity by affecting neuroprotective complexes of N-methyl-d-aspartate receptor

2020 ◽  
Vol 2 (2) ◽  
Author(s):  
Md Al Rahim ◽  
Yonejung Yoon ◽  
Christina Dimovasili ◽  
Zhiping Shao ◽  
Qian Huang ◽  
...  
Keyword(s):  
Alzheimer Disease ◽  
De Novo ◽  
Neuronal Damage ◽  
Trophic Factors ◽  
Presenilin 1 ◽  
Wild Type ◽  
Receptor Complexes ◽  
Aspartate Receptor ◽  
Familial Alzheimer Disease ◽  
The Stability

Abstract Excitotoxicity is thought to play key roles in brain neurodegeneration and stroke. Here we show that neuroprotection against excitotoxicity by trophic factors EFNB1 and brain-derived neurotrophic factor (called here factors) requires de novo formation of ‘survival complexes’ which are factor-stimulated complexes of N-methyl-d-aspartate receptor with factor receptor and presenilin 1. Absence of presenilin 1 reduces the formation of survival complexes and abolishes neuroprotection. EPH receptor B2- and N-methyl-d-aspartate receptor-derived peptides designed to disrupt formation of survival complexes also decrease the factor-stimulated neuroprotection. Strikingly, factor-dependent neuroprotection and levels of the de novo factor-stimulated survival complexes decrease dramatically in neurons expressing presenilin 1 familial Alzheimer disease mutants. Mouse neurons and brains expressing presenilin 1 familial Alzheimer disease mutants contain increased amounts of constitutive presenilin 1–N-methyl-d-aspartate receptor complexes unresponsive to factors. Interestingly, the stability of the familial Alzheimer disease presenilin 1–N-methyl-d-aspartate receptor complexes differs from that of wild type complexes and neurons of mutant-expressing brains are more vulnerable to cerebral ischaemia than neurons of wild type brains. Furthermore, N-methyl-d-aspartate receptor-mediated excitatory post-synaptic currents at CA1 synapses are altered by presenilin 1 familial Alzheimer disease mutants. Importantly, high levels of presenilin 1–N-methyl-d-aspartate receptor complexes are also found in post-mortem brains of Alzheimer disease patients expressing presenilin 1 familial Alzheimer disease mutants. Together, our data identify a novel presenilin 1-dependent neuroprotective mechanism against excitotoxicity and indicate a pathway by which presenilin 1 familial Alzheimer disease mutants decrease factor-depended neuroprotection against excitotoxicity and ischaemia in the absence of Alzheimer disease neuropathological hallmarks which may form downstream of neuronal damage. These findings have implications for the pathogenic effects of familial Alzheimer disease mutants and therapeutic strategies.

scholarly journals Autopsy-Confirmed Familial Early-Onset Alzheimer Disease Caused by the L153V Presenilin 1 Mutation

2001 ◽  
Vol 58 (6) ◽  
pp. 953 ◽  
Author(s):  
John C. Janssen ◽  
Peter L. Lantos ◽  
Nicholas C. Fox ◽  
Richard J. Harvey ◽  
Jonathan Beck ◽  
...  
Keyword(s):  
Alzheimer Disease ◽  
Early Onset ◽  
Presenilin 1 ◽  
Presenilin 1 Mutation
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