Matches in SemOpenAlex for { <https://semopenalex.org/work/W2065019905> ?p ?o ?g. }
Showing items 1 to 77 of
77
with 100 items per page.
- W2065019905 abstract "Mutations in the amyloid precursor protein (APP) gene are associated with familial Alzheimer Disease. Here we report the neuropathological findings observed in the brain of an affected carrier of the V717L APP mutation. The proband presented with short-term memory loss and mild behavioral changes at age 35. He died at age 44, following a 9 years disease duration. His family history is remarkable for his father who died of heart attack at age 42 after having experienced memory loss and depression, and a sister who developed similar symptoms at age 38 and died at age 51. The proband's brain was processed for histology and immunohistochemistry (IHC). Aβ IHC was carried out using antibodies recognizing Aβ3–7, AβN3pE, Aβ10–16, Aβ17–24, AβN-40 and AβN-42. IHC for α-synuclein was also carried out. The brain (approximately 1183 grams) displayed moderate atrophy of the frontal lobe, mild atrophy of the remaining lobes, and extensive atrophy of the hippocampus and parahippocampal gyrus. Neuritic plaques (CERAD stage C) were abundant in the intermediate neocortical layers. Abundant diffuse Aβ deposits were observed in the remaining cortical layers as well as in the subpial zone. Mild amyloid angiopathy was seen, predominantly in penetrating vessels. Braak VI-tau pathology was observed, particularly affecting layer V and VI. Neuritic plaques were immunoreactive against the full panel of Aβ antibodies except for the anti-AβN-40. Diffuse deposits contained AβN-42 species but did not react with antibodies recognizing epitopes located before position 11. In the cerebellum, a few Aβ-immunoreactive diffuse deposits were seen. Occasional neuritic plaques were observed in the brainstem. IHC for α-synuclein was negative in all the examined sections. The proband's ApoE genotype was ϵ3/ϵ3. Our data suggest a heterogeneous involvement of the cortical layers by the deposition of Aβ species with specific immunohistochemical pattern. They also suggest that diffuse deposits, in the upper and lower cortical layers, are composed by N-terminally truncated Aβ species. Supported by AG10133 and Alzheimer's Association." @default.
- W2065019905 created "2016-06-24" @default.
- W2065019905 creator A5012334998 @default.
- W2065019905 creator A5012811609 @default.
- W2065019905 creator A5025008902 @default.
- W2065019905 creator A5047929315 @default.
- W2065019905 creator A5054119993 @default.
- W2065019905 creator A5071364728 @default.
- W2065019905 creator A5090231686 @default.
- W2065019905 date "2008-07-01" @default.
- W2065019905 modified "2023-10-16" @default.
- W2065019905 title "P3-221: Familial Alzheimer's disease associated with the V717L amyloid precursor protein gene mutation: Neuropathological characterization" @default.
- W2065019905 doi "https://doi.org/10.1016/j.jalz.2008.05.1788" @default.
- W2065019905 hasPublicationYear "2008" @default.
- W2065019905 type Work @default.
- W2065019905 sameAs 2065019905 @default.
- W2065019905 citedByCount "2" @default.
- W2065019905 countsByYear W20650199052019 @default.
- W2065019905 crossrefType "journal-article" @default.
- W2065019905 hasAuthorship W2065019905A5012334998 @default.
- W2065019905 hasAuthorship W2065019905A5012811609 @default.
- W2065019905 hasAuthorship W2065019905A5025008902 @default.
- W2065019905 hasAuthorship W2065019905A5047929315 @default.
- W2065019905 hasAuthorship W2065019905A5054119993 @default.
- W2065019905 hasAuthorship W2065019905A5071364728 @default.
- W2065019905 hasAuthorship W2065019905A5090231686 @default.
- W2065019905 hasConcept C104317684 @default.
- W2065019905 hasConcept C142724271 @default.
- W2065019905 hasConcept C188997412 @default.
- W2065019905 hasConcept C204232928 @default.
- W2065019905 hasConcept C2777633098 @default.
- W2065019905 hasConcept C2777682930 @default.
- W2065019905 hasConcept C2777790613 @default.
- W2065019905 hasConcept C2779134260 @default.
- W2065019905 hasConcept C2779483572 @default.
- W2065019905 hasConcept C2781172350 @default.
- W2065019905 hasConcept C501734568 @default.
- W2065019905 hasConcept C502032728 @default.
- W2065019905 hasConcept C54355233 @default.
- W2065019905 hasConcept C68026918 @default.
- W2065019905 hasConcept C71924100 @default.
- W2065019905 hasConcept C86803240 @default.
- W2065019905 hasConceptScore W2065019905C104317684 @default.
- W2065019905 hasConceptScore W2065019905C142724271 @default.
- W2065019905 hasConceptScore W2065019905C188997412 @default.
- W2065019905 hasConceptScore W2065019905C204232928 @default.
- W2065019905 hasConceptScore W2065019905C2777633098 @default.
- W2065019905 hasConceptScore W2065019905C2777682930 @default.
- W2065019905 hasConceptScore W2065019905C2777790613 @default.
- W2065019905 hasConceptScore W2065019905C2779134260 @default.
- W2065019905 hasConceptScore W2065019905C2779483572 @default.
- W2065019905 hasConceptScore W2065019905C2781172350 @default.
- W2065019905 hasConceptScore W2065019905C501734568 @default.
- W2065019905 hasConceptScore W2065019905C502032728 @default.
- W2065019905 hasConceptScore W2065019905C54355233 @default.
- W2065019905 hasConceptScore W2065019905C68026918 @default.
- W2065019905 hasConceptScore W2065019905C71924100 @default.
- W2065019905 hasConceptScore W2065019905C86803240 @default.
- W2065019905 hasIssue "4S_Part_18" @default.
- W2065019905 hasLocation W20650199051 @default.
- W2065019905 hasOpenAccess W2065019905 @default.
- W2065019905 hasPrimaryLocation W20650199051 @default.
- W2065019905 hasRelatedWork W2025722191 @default.
- W2065019905 hasRelatedWork W2028502857 @default.
- W2065019905 hasRelatedWork W2032580549 @default.
- W2065019905 hasRelatedWork W2046725122 @default.
- W2065019905 hasRelatedWork W2099495321 @default.
- W2065019905 hasRelatedWork W2336965499 @default.
- W2065019905 hasRelatedWork W2408102490 @default.
- W2065019905 hasRelatedWork W2412839611 @default.
- W2065019905 hasRelatedWork W259780962 @default.
- W2065019905 hasRelatedWork W4230537717 @default.
- W2065019905 hasVolume "4" @default.
- W2065019905 isParatext "false" @default.
- W2065019905 isRetracted "false" @default.
- W2065019905 magId "2065019905" @default.
- W2065019905 workType "article" @default.