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Abnormal amyloid beta peptide CSF concentration

MedGen UID:
1814201
Concept ID:
C5676623
Finding
HPO: HP:0025688

Definition

Any anomaly in the concentration of a cleaved APP amyloid beta protein fragment in the cerebrospinal fluid. [from HPO]

Professional guidelines

PubMed

Benson GS, Bauer C, Hausner L, Couturier S, Lewczuk P, Peters O, Hüll M, Jahn H, Jessen F, Pantel J, Teipel SJ, Wagner M, Schuchhardt J, Wiltfang J, Kornhuber J, Frölich L
J Neural Transm (Vienna) 2022 Jun;129(5-6):477-486. Epub 2022 Jan 21 doi: 10.1007/s00702-022-02461-0. PMID: 35061102Free PMC Article

Recent clinical studies

Etiology

Jia J, Ning Y, Chen M, Wang S, Yang H, Li F, Ding J, Li Y, Zhao B, Lyu J, Yang S, Yan X, Wang Y, Qin W, Wang Q, Li Y, Zhang J, Liang F, Liao Z, Wang S
N Engl J Med 2024 Feb 22;390(8):712-722. doi: 10.1056/NEJMoa2310168. PMID: 38381674
Jiang R, Smailovic U, Haytural H, Tijms BM, Li H, Haret RM, Shevchenko G, Chen G, Abelein A, Gobom J, Frykman S, Sekiguchi M, Fujioka R, Watamura N, Sasaguri H, Nyström S, Hammarström P, Saido TC, Jelic V, Syvänen S, Zetterberg H, Winblad B, Bergquist J, Visser PJ, Nilsson P
Acta Neuropathol Commun 2022 Jul 4;10(1):96. doi: 10.1186/s40478-022-01398-5. PMID: 35787306Free PMC Article
Fagan AM, Henson RL, Li Y, Boerwinkle AH, Xiong C, Bateman RJ, Goate A, Ances BM, Doran E, Christian BT, Lai F, Rosas HD, Schupf N, Krinsky-McHale S, Silverman W, Lee JH, Klunk WE, Handen BL, Allegri RF, Chhatwal JP, Day GS, Graff-Radford NR, Jucker M, Levin J, Martins RN, Masters CL, Mori H, Mummery CJ, Niimi Y, Ringman JM, Salloway S, Schofield PR, Shoji M, Lott IT; Alzheimer's Biomarker Consortium–Down Syndrome; Dominantly Inherited Alzheimer Network
Lancet Neurol 2021 Aug;20(8):615-626. doi: 10.1016/S1474-4422(21)00139-3. PMID: 34302786Free PMC Article
Tijms BM, Gobom J, Reus L, Jansen I, Hong S, Dobricic V, Kilpert F, Ten Kate M, Barkhof F, Tsolaki M, Verhey FRJ, Popp J, Martinez-Lage P, Vandenberghe R, Lleó A, Molinuevo JL, Engelborghs S, Bertram L, Lovestone S, Streffer J, Vos S, Bos I; Alzheimer’s Disease Neuroimaging Initiative (ADNI), Blennow K, Scheltens P, Teunissen CE, Zetterberg H, Visser PJ
Brain 2020 Dec 1;143(12):3776-3792. doi: 10.1093/brain/awaa325. PMID: 33439986Free PMC Article
Piazza F, Greenberg SM, Savoiardo M, Gardinetti M, Chiapparini L, Raicher I, Nitrini R, Sakaguchi H, Brioschi M, Billo G, Colombo A, Lanzani F, Piscosquito G, Carriero MR, Giaccone G, Tagliavini F, Ferrarese C, DiFrancesco JC
Ann Neurol 2013 Apr;73(4):449-58. Epub 2013 Apr 26 doi: 10.1002/ana.23857. PMID: 23625526

Diagnosis

Jia J, Ning Y, Chen M, Wang S, Yang H, Li F, Ding J, Li Y, Zhao B, Lyu J, Yang S, Yan X, Wang Y, Qin W, Wang Q, Li Y, Zhang J, Liang F, Liao Z, Wang S
N Engl J Med 2024 Feb 22;390(8):712-722. doi: 10.1056/NEJMoa2310168. PMID: 38381674
Kang JH, Korecka M, Lee EB, Cousins KAQ, Tropea TF, Chen-Plotkin AA, Irwin DJ, Wolk D, Brylska M, Wan Y, Shaw LM
Clin Chem 2023 Nov 2;69(11):1247-1259. doi: 10.1093/clinchem/hvad139. PMID: 37725909Free PMC Article
Janelidze S, Bali D, Ashton NJ, Barthélemy NR, Vanbrabant J, Stoops E, Vanmechelen E, He Y, Dolado AO, Triana-Baltzer G, Pontecorvo MJ, Zetterberg H, Kolb H, Vandijck M, Blennow K, Bateman RJ, Hansson O
Brain 2023 Apr 19;146(4):1592-1601. doi: 10.1093/brain/awac333. PMID: 36087307Free PMC Article
Piazza F, Caminiti SP, Zedde M, Presotto L, DiFrancesco JC, Pascarella R, Giossi A, Sessa M, Poli L, Basso G, Perani D
Neurology 2022 Sep 20;99(12):e1265-e1277. Epub 2022 Aug 8 doi: 10.1212/WNL.0000000000200892. PMID: 35940900Free PMC Article
Fortea J, Vilaplana E, Carmona-Iragui M, Benejam B, Videla L, Barroeta I, Fernández S, Altuna M, Pegueroles J, Montal V, Valldeneu S, Giménez S, González-Ortiz S, Muñoz L, Estellés T, Illán-Gala I, Belbin O, Camacho V, Wilson LR, Annus T, Osorio RS, Videla S, Lehmann S, Holland AJ, Alcolea D, Clarimón J, Zaman SH, Blesa R, Lleó A
Lancet 2020 Jun 27;395(10242):1988-1997. doi: 10.1016/S0140-6736(20)30689-9. PMID: 32593336Free PMC Article

Therapy

Charidimou A, Boulouis G
Neurology 2024 Oct 8;103(7):e209795. Epub 2024 Sep 13 doi: 10.1212/WNL.0000000000209795. PMID: 39270153
Aschenbrenner AJ, Li Y, Henson RL, Volluz K, Hassenstab J, Verghese P, West T, Meyer MR, Kirmess KM, Fagan AM, Xiong C, Holtzman D, Morris JC, Bateman RJ, Schindler SE
Ann Clin Transl Neurol 2022 Nov;9(11):1739-1751. Epub 2022 Oct 2 doi: 10.1002/acn3.51670. PMID: 36183195Free PMC Article
Piazza F, Caminiti SP, Zedde M, Presotto L, DiFrancesco JC, Pascarella R, Giossi A, Sessa M, Poli L, Basso G, Perani D
Neurology 2022 Sep 20;99(12):e1265-e1277. Epub 2022 Aug 8 doi: 10.1212/WNL.0000000000200892. PMID: 35940900Free PMC Article
Fortea J, Vilaplana E, Carmona-Iragui M, Benejam B, Videla L, Barroeta I, Fernández S, Altuna M, Pegueroles J, Montal V, Valldeneu S, Giménez S, González-Ortiz S, Muñoz L, Estellés T, Illán-Gala I, Belbin O, Camacho V, Wilson LR, Annus T, Osorio RS, Videla S, Lehmann S, Holland AJ, Alcolea D, Clarimón J, Zaman SH, Blesa R, Lleó A
Lancet 2020 Jun 27;395(10242):1988-1997. doi: 10.1016/S0140-6736(20)30689-9. PMID: 32593336Free PMC Article
Piazza F, Greenberg SM, Savoiardo M, Gardinetti M, Chiapparini L, Raicher I, Nitrini R, Sakaguchi H, Brioschi M, Billo G, Colombo A, Lanzani F, Piscosquito G, Carriero MR, Giaccone G, Tagliavini F, Ferrarese C, DiFrancesco JC
Ann Neurol 2013 Apr;73(4):449-58. Epub 2013 Apr 26 doi: 10.1002/ana.23857. PMID: 23625526

Prognosis

Jia J, Ning Y, Chen M, Wang S, Yang H, Li F, Ding J, Li Y, Zhao B, Lyu J, Yang S, Yan X, Wang Y, Qin W, Wang Q, Li Y, Zhang J, Liang F, Liao Z, Wang S
N Engl J Med 2024 Feb 22;390(8):712-722. doi: 10.1056/NEJMoa2310168. PMID: 38381674
Janelidze S, Bali D, Ashton NJ, Barthélemy NR, Vanbrabant J, Stoops E, Vanmechelen E, He Y, Dolado AO, Triana-Baltzer G, Pontecorvo MJ, Zetterberg H, Kolb H, Vandijck M, Blennow K, Bateman RJ, Hansson O
Brain 2023 Apr 19;146(4):1592-1601. doi: 10.1093/brain/awac333. PMID: 36087307Free PMC Article
Piazza F, Caminiti SP, Zedde M, Presotto L, DiFrancesco JC, Pascarella R, Giossi A, Sessa M, Poli L, Basso G, Perani D
Neurology 2022 Sep 20;99(12):e1265-e1277. Epub 2022 Aug 8 doi: 10.1212/WNL.0000000000200892. PMID: 35940900Free PMC Article
Pascoal TA, Benedet AL, Ashton NJ, Kang MS, Therriault J, Chamoun M, Savard M, Lussier FZ, Tissot C, Karikari TK, Ottoy J, Mathotaarachchi S, Stevenson J, Massarweh G, Schöll M, de Leon MJ, Soucy JP, Edison P, Blennow K, Zetterberg H, Gauthier S, Rosa-Neto P
Nat Med 2021 Sep;27(9):1592-1599. Epub 2021 Aug 26 doi: 10.1038/s41591-021-01456-w. PMID: 34446931
Fortea J, Vilaplana E, Carmona-Iragui M, Benejam B, Videla L, Barroeta I, Fernández S, Altuna M, Pegueroles J, Montal V, Valldeneu S, Giménez S, González-Ortiz S, Muñoz L, Estellés T, Illán-Gala I, Belbin O, Camacho V, Wilson LR, Annus T, Osorio RS, Videla S, Lehmann S, Holland AJ, Alcolea D, Clarimón J, Zaman SH, Blesa R, Lleó A
Lancet 2020 Jun 27;395(10242):1988-1997. doi: 10.1016/S0140-6736(20)30689-9. PMID: 32593336Free PMC Article

Clinical prediction guides

Jia J, Ning Y, Chen M, Wang S, Yang H, Li F, Ding J, Li Y, Zhao B, Lyu J, Yang S, Yan X, Wang Y, Qin W, Wang Q, Li Y, Zhang J, Liang F, Liao Z, Wang S
N Engl J Med 2024 Feb 22;390(8):712-722. doi: 10.1056/NEJMoa2310168. PMID: 38381674
Janelidze S, Bali D, Ashton NJ, Barthélemy NR, Vanbrabant J, Stoops E, Vanmechelen E, He Y, Dolado AO, Triana-Baltzer G, Pontecorvo MJ, Zetterberg H, Kolb H, Vandijck M, Blennow K, Bateman RJ, Hansson O
Brain 2023 Apr 19;146(4):1592-1601. doi: 10.1093/brain/awac333. PMID: 36087307Free PMC Article
Piazza F, Caminiti SP, Zedde M, Presotto L, DiFrancesco JC, Pascarella R, Giossi A, Sessa M, Poli L, Basso G, Perani D
Neurology 2022 Sep 20;99(12):e1265-e1277. Epub 2022 Aug 8 doi: 10.1212/WNL.0000000000200892. PMID: 35940900Free PMC Article
Pascoal TA, Benedet AL, Ashton NJ, Kang MS, Therriault J, Chamoun M, Savard M, Lussier FZ, Tissot C, Karikari TK, Ottoy J, Mathotaarachchi S, Stevenson J, Massarweh G, Schöll M, de Leon MJ, Soucy JP, Edison P, Blennow K, Zetterberg H, Gauthier S, Rosa-Neto P
Nat Med 2021 Sep;27(9):1592-1599. Epub 2021 Aug 26 doi: 10.1038/s41591-021-01456-w. PMID: 34446931
Fortea J, Vilaplana E, Carmona-Iragui M, Benejam B, Videla L, Barroeta I, Fernández S, Altuna M, Pegueroles J, Montal V, Valldeneu S, Giménez S, González-Ortiz S, Muñoz L, Estellés T, Illán-Gala I, Belbin O, Camacho V, Wilson LR, Annus T, Osorio RS, Videla S, Lehmann S, Holland AJ, Alcolea D, Clarimón J, Zaman SH, Blesa R, Lleó A
Lancet 2020 Jun 27;395(10242):1988-1997. doi: 10.1016/S0140-6736(20)30689-9. PMID: 32593336Free PMC Article

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