Familial Alzheimer's disease with the amyloid precursor protein position 717 mutation and sporadic Alzheimer's disease have the same cytoskeletal pathology

@article{Lantos1992FamilialAD,
  title={Familial Alzheimer's disease with the amyloid precursor protein position 717 mutation and sporadic Alzheimer's disease have the same cytoskeletal pathology},
  author={Peter L. Lantos and Philip J. Luthert and Diane P. Hanger and B. H. Anderton and Michael John Mullan and Martin N. Rossor},
  journal={Neuroscience Letters},
  year={1992},
  volume={137},
  pages={221-224}
}
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86 Citations
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86 Citations

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Tau pathology in a case of familial Alzheimer's disease with a valine to glycine mutation at position 717 in the amyloid precursor protein
βA4 protein deposition in familial Alzheimer's disease with the mutation in codon 717 of the βA4 amyloid precursor protein gene and sporadic Alzheimer's disease
The genetics of Alzheimer's disease and mutations in the amyloid β-protein precursor gene
Cerebellar pathology in sporadic and familial Alzheimer's disease including APP 717 (Val→Ile) mutation cases: A morphometric investigation
Processing of Mutant β-Amyloid Precursor Protein and the Clinicopathological Features of Familial Alzheimer’s Disease
TLDR
A “snowball hypothesis” is proposed: the accumulation of intraneuronal NFTs caused by extracellular Aβ42 and the increase in intraneURonal APP proteolytic products (CTFs and Aβs) could cause cellular organelle stress that leads to neurodegeneration in AD, which then resembles the formation of abnormal protein ”snowballs” both inside and outside of neurons.
Increased Aβ 42(43)-plaque deposition in early-onset familial Alzheimer's disease brains with the deletion of exon 9 and the missense point mutation (H163R) in the PS-1 gene
Variations in the neuropathology of familial Alzheimer’s disease
TLDR
Additional frontotemporal neuronal loss in association with increased tau pathology appears unique to PSEN mutations, with mutations in exons 8 and 9 having enlarged cotton wool plaques throughout their cortex.
Prominent amyloid plaque pathology and cerebral amyloid angiopathy in APP V717I (London) carrier – phenotypic variability in autosomal dominant Alzheimer’s disease
TLDR
The detailed clinical and neuropathologic characterization of an APP V717I carrier is presented, which reveals important novel insights into the phenotypic variability of ADAD cases and demonstrates striking phenotypesic variability inADAD cases.
Lewy body and Alzheimer pathology in a family with the amyloid-β precursor protein APP717 gene mutation
TLDR
Observations suggest an association between the chromosome 21 APP mutation and Lewy body formation, possibly mediated by other environmental or genetic factors.
The Amyloid Peptide and Its Precursor in Alzheimer's Disease
  • J. Octave
  • Biology
    Reviews in the neurosciences
  • 1995
TLDR
expression in transgenic mice of both mutated amyloid peptide precursor and amyloids associated proteins should prove useful for examining the importance of putative etiological factors, and for testing novel therapies including anti-amyloidogenic strategies.
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TLDR
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