6 research outputs found
New insights into the genetic etiology of Alzheimer's disease and related dementias
- Author
- Aaltonen L.
- Aaltonen V.
- Aarsland Dag
- Aavikko M.
- Abalos M.S.
- Abdelnour Carla
- Abner E.
- Abraham R.
- Adams H.
- Adams P.M.
- Adarmes-GĂłmez A.
- Adarmes-GĂłmez A.D.
- Aguilera N.
- Aguilera N.
- Aguirre A.
- Ahmad S.
- Akinyemi R.O.
- Al-Chalabi A.
- AlarcĂłn-MartĂn Emilio
- Albert M.S.
- Albin R.L.
- Alcolea Daniel
- Alegret Montserrat
- Ali M.
- Allen M.
- Allende I.R.
- Alonso M.D.
- Alonso M.D.
- Alvarez I.
- Alvarez L.
- Amer-Ferrer G.
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- Amouyel Philippe
- Anastasiou A.
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- Ullgren A.
- Ulstein I.
- Universitat AutĂČnoma de Barcelona
- Uphill J.
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- Van Deerlin V.M.
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- Whelan C.
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- Wu Y.
- Xia T.h.
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- Yaqub A.
- Younkin S.G.
- Yu C.E.
- Yu L.
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- Zhang X.
- Zhang Y.
- Zhao Y.
- Zhao Y.
- Zhou W.
- Zhu C.
- Zhu X.
- Ziemann A.
- Zoia C.P.
- Zompo M.D.
- Zulaica M.
- Ălvarez V.
- Publication venue
- Publication date
- 01/01/2022
- Field of study
Characterization of the genetic landscape of Alzheimer's disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We performed a two-stage genome-wide association study totaling 111,326 clinically diagnosed/'proxy' AD cases and 677,663 controls. We found 75 risk loci, of which 42 were new at the time of analysis. Pathway enrichment analyses confirmed the involvement of amyloid/tau pathways and highlighted microglia implication. Gene prioritization in the new loci identified 31 genes that were suggestive of new genetically associated processes, including the tumor necrosis factor alpha pathway through the linear ubiquitin chain assembly complex. We also built a new genetic risk score associated with the risk of future AD/dementia or progression from mild cognitive impairment to AD/dementia. The improvement in prediction led to a 1.6- to 1.9-fold increase in AD risk from the lowest to the highest decile, in addition to effects of age and the APOE Δ4 allele
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A Novel Computerized Cognitive Stress Test to Detect Mild Cognitive Impairment
- Author
- Publication venue
- Publication date
- 01/01/2021
- Field of study
BACKGROUND: The Loewenstein Acevedo Scales of Semantic Interference and Learning (LASSI-L) is a novel and increasingly employed instrument that has outperformed widely used cognitive measures as an early correlate of elevated brain amyloid and neurodegeneration in prodromal Alzheimerâs Disease (AD). The LASSI-L has distinguished those with amnestic mild cognitive impairment (aMCI) and high amyloid load from aMCI attributable to other non-AD conditions. The authors designed and implemented a web-based brief computerized version of the instrument, the LASSI-BC, to improve standardized administration, facilitate scoring accuracy, real-time data entry, and increase the accessibility of the measure. Objective: The psychometric properties and clinical utility of the brief computerized version of the LASSI-L was evaluated, together with its ability to differentiate older adults who are cognitively normal (CN) from those with amnestic Mild Cognitive Impairment (aMCI). Methods: After undergoing a comprehensive uniform clinical and neuropsychological evaluation using traditional measures, older adults were classified as cognitively normal or diagnosed with aMCI. All participants were administered the LASSI-BC, a computerized version of the LASSI-L. Test-retest and discriminant validity was assessed for each LASSI-BC subscale. Results: LASSI-BC subscales demonstrated high test-retest reliability, and discriminant validity was attained. Conclusions: The LASSI-BC, a brief computerized version of the LASSI-L is a valid and useful cognitive tool for the detection of aMCI among older adults
Detrital zircon records of the Paleo-Mesoproterozoic rift-sag TamanduĂĄ Group in its type-section, Northern QuadrilĂĄtero FerrĂfero, Minas Gerais, Brazil
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- Abreu F.R.
- Aguilar C.
- Alkmim F.F.
- Alkmim F.F.
- Alkmim F.F.
- Alkmim F.F.
- Almeida D.E.
- Almeida L.G.
- Almeida-Filho A.C. de
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- Amaral G.
- Angeli G.
- Babinski M.
- Babinski M.
- Barbosa N.S.
- Barbosa N.S.
- Besang C.
- Brandalise L.A.
- Brito Neves B.B.
- Brito Neves B.B.
- Castro L.O.
- Cederberg J.
- Chemale Jr. F.
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- Crocco-Rodrigues F.A.
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- Cutts K.
- Danderfer A.
- Danderfer Filho A.
- de Castro M.P.
- Dickinson W.R.
- Dorr II J.V.N.
- Dussin I.A.
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- Dutra L.F.
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- Endo I.
- Farina F.
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- Freitas M.E.
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- Guadagnin F.
- Guadagnin F.
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- GuimarĂŁes D.
- GuimarĂŁes S.N.P.
- Harder E.C.
- Herz N.
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- Hirson J. da R.
- Jackson S.E.
- Katahira D.F.
- Kleinspehn K.L.
- Ladeira E.A.
- Lana C.
- Lobato L.M.
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- Marques G.C.
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- MartĂnez Dopico C.I.
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- Miller J.S.
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- Noce C.M.
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- Patranabis-Deb S.
- Pimentel M.M.
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- Schöll W.U.
- Seixas L.A.R.
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- Turpin L.
- Valladares C.S.
- van Achterbergh E.
- Ăvila C.A.
- Ăvila C.A.
- Publication venue
- 'FapUNIFESP (SciELO)'
- Publication date
- 01/01/2020
- Field of study
Petrography, geochemistry and geochronology of the potassic granitoids of the Rio Itacambiruçu Supersuite: implications for the Meso- to Neoarchean evolution of the Itacambira-Monte Azul block
- Author
- Alkmim F.F.
- Alkmim F.F.
- Alkmim F.F.
- Alkmim F.F.
- Almeida F.F.M.
- Almeida J.A.C.
- Almeida J.A.C.
- Armstrong R.L.
- Barbosa J.S.
- Barbosa J.S.F.
- Barbosa N.S.
- Bea F.
- Beard J.S.
- Belousova E.A.
- Bersan S.M.
- Bertoldo A.L.
- Boehnke P.
- Boynton W.V.
- Carvalho B.B.
- Castro A.
- Champion D.C.
- Champion D.C.
- Chappell B.W.
- Cox K.G.
- Crocco-Rodrigues F.A.
- Cruz Pereira S.C.
- Cruz S.C.
- Dey S.
- Dhuime B.
- Drumond J.B.V.
- Farina F.
- Feio G.R.L.
- Fonseca E.
- Fonseca E.
- Frost B.R.
- Frost C.D.
- Fu J.
- Gill T.B.
- Grossi-Sad J.H.
- GuimarĂŁes M.L.V.
- Guitreau M.
- Halla J.
- Harrison T.M.
- Jackson S.E.
- Janousek V.
- Jayananda M.
- Knauer L.G.
- Lana C.
- Laurent O.
- Ludwig K.R.
- Manya S.
- Manya S.
- Martin H.
- Martin H.
- Martin H.
- McDonough W.F.
- Mikkola P.
- Miller C.F.
- Misra S.
- Moreno J.A.
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- Moyen J.F.
- Moyen J.F.
- Nesbitt H.W.
- Noce C.M.
- Ohta T.
- OâConnor J.T.
- Patiño Douce A.E.
- Peng T.P.
- Philpotts A.R.
- Rapp R.P.
- Ridley J.R.
- Romano R.
- Salvador A.
- Santos M.M.
- Santos-Pinto M.
- Shirey S.B.
- Silva L.C. da
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- Sisson T.
- Skjerlie K.P.
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- Teixeira W.
- Van Achterbergh E.
- Watkins J.M.
- Watson E.B.
- Whalen J.B.
- Zincone S.A.
- Publication venue
- 'FapUNIFESP (SciELO)'
- Publication date
- Field of study
Alzheimer's disease risk polymorphisms regulate gene expression in the ZCWPW1 and the CELF1 loci
- Author
- Albert M.S.
- Albin R.L.
- Apostolova L.G.
- Arnold S.E.
- Baldwin C.T.
- Barber R.
- Barmada M.M.
- Barnes L.L.
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- Beecham G.W.
- Beekly D.
- Bennett D.A.
- Bertelsen S.
- Bigio E.H.
- Bird T.D.
- Blacker D.
- Boeve B.F.
- Bowen J.D.
- Boxer A.
- Burke J.R.
- Buxbaum J.D.
- Cairns N.J.
- Cantwell L.B.
- Cao C.
- Carlson C.S.
- Carney R.M.
- Carrasquillo M.M.
- Carroll S.L.
- Chui H.C.
- Clark D.G.
- Corneveaux J.
- Crane P.K.
- Cribbs D.H.
- Crocco E.A.
- Cruchaga C.
- De Jager P.L.
- DeCarli C.
- DeKosky S.T.
- Demirci F.Y.
- Dick M.
- Dickson D.W.
- Duara R.
- Ertekin-Taner N.
- Evans D.
- Ezerskiy L.A.
- Faber K.M.
- Fallon K.B.
- Farlow M.R.
- Ferris S.
- Foroud T.M.
- Frosch M.P.
- Galasko D.R.
- Ganguli M.
- Gearing M.
- Geschwind D.H.
- Ghetti B.
- Gilbert J.R.
- Gilman S.
- Glass J.D.
- Goate A.M.
- Graff-Radford N.R.
- Green R.C.
- Growdon J.H.
- Hakonarson H.
- Hamilton R.L.
- Hamilton-Nelson K.L.
- Hardy J.
- Harrell L.E.
- Head E.
- Honig L.S.
- Huentelman M.J.
- Hulette C.M.
- Hyman B.T.
- Jarvik G.P.
- Jicha G.A.
- Jin L.-W.
- Kamboh M.I.
- Karch C.M.
- Karydas A.
- Kauwe J.S.K.
- Kaye J.A.
- Kim R.
- Koo E.H.
- Kowall N.W.
- Kramer J.H.
- Kramer P.
- Kukull W.A.
- LaFerla F.M.
- Lah J.J.
- Larson E.B.
- Leverenz J.B.
- Levey A.I.
- Li G.
- Lieberman A.P.
- Lin C.-F.
- Lopez O.L.
- Lunetta K.L.
- Lyketsos C.G.
- Mack W.J.
- Marson D.C.
- Martin E.R.
- Martiniuk F.
- Mash D.C.
- Masliah E.
- McCormick W.C.
- McCurry S.M.
- McDavid A.N.
- McKee A.C.
- Mesulam M.
- Miller B.L.
- Miller C.A.
- Miller J.W.
- Montine T.J.
- Morris J.C.
- Murrell J.R.
- Myers A.J.
- Naj A.C.
- Olichney J.M.
- Pankratz V.S.
- Parisi J.E.
- Peskind E.
- Petersen R.C.
- Pierce A.
- Poon W.W.
- Potter H.
- Quinn J.F.
- Raj A.
- Rajbhandary R.A.
- Raskind M.
- Reiman E.M.
- Reisberg B.
- Reitz C.
- Ringman J.M.
- Roberson E.D.
- Rogaeva E.
- Rosen H.J.
- Rosenberg R.N.
- Sano M.
- Saykin A.J.
- Schneider J.A.
- Schneider L.S.
- Seeley W.W.
- Smith A.G.
- Sonnen J.A.
- Spina S.
- Stern R.A.
- Tanzi R.E.
- Trojanowski J.Q.
- Troncoso J.C.
- Tsuang D.W.
- Valladares O.
- Van Deerlin V.M.
- Van Eldik L.J.
- Vardarajan B.N.
- Vinters H.V.
- Vonsattel J.P.
- Weintraub S.
- Welsh-Bohmer K.A.
- Williamson J.
- Woltjer R.L.
- Wright C.B.
- Younkin S.G.
- Yu C.-E.
- Yu L.
- Publication venue
- 'Public Library of Science (PLoS)'
- Publication date
- 01/01/2016
- Field of study
10.1371/journal.pone.0148717PLoS ONE112e014871
New insights into the genetic etiology of Alzheimerâs disease and related dementias
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/2022
- Field of study
Characterization of the genetic landscape of Alzheimerâs disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We performed a two-stage genome-wide association study totaling 111,326 clinically diagnosed/âproxyâ AD cases and 677,663 controls. We found 75 risk loci, of which 42 were new at the time of analysis. Pathway enrichment analyses confirmed the involvement of amyloid/tau pathways and highlighted microglia implication. Gene prioritization in the new loci identified 31 genes that were suggestive of new genetically associated processes, including the tumor necrosis factor alpha pathway through the linear ubiquitin chain assembly complex. We also built a new genetic risk score associated with the risk of future AD/dementia or progression from mild cognitive impairment to AD/dementia. The improvement in prediction led to a 1.6- to 1.9-fold increase in AD risk from the lowest to the highest decile, in addition to effects of age and the APOE Δ4 allele. © 2022, The Author(s)