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Abnormal amyloid beta 40 peptide CSF concentration

MedGen UID:
1814199
Concept ID:
C5676621
Finding
Synonyms: Abnormal Abeta 40 level; Abnormal beta amyloid 40 level
 
HPO: HP:0025686

Definition

Any deviation from the normal concentration of amyloid beta 42 peptide in the cerebrospinal fluid (CSF). Amyloid beta is a peptide of 36-43 amino acids that is processed from the Amyloid precursor protein. ABeta40, which is 40 amino acids in length, is the shorter form. [from HPO]

Recent clinical studies

Etiology

Bolsewig K, van Unnik AAJM, Blujdea ER, Gonzalez MC, Ashton NJ, Aarsland D, Zetterberg H, Padovani A, Bonanni L, Mollenhauer B, Schade S, Vandenberghe R, Poesen K, Kramberger MG, Paquet C, Bousiges O, Cretin B, Willemse EAJ, Teunissen CE, Lemstra AW; European-Dementia With Lewy Bodies (E-DLB) Consortium
Neurology 2024 Jun 25;102(12):e209418. Epub 2024 Jun 3 doi: 10.1212/WNL.0000000000209418. PMID: 38830138Free PMC Article
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
Schmidt-Morgenroth I, Michaud P, Gasparini F, Avrameas A
Int J Mol Sci 2023 Jun 23;24(13) doi: 10.3390/ijms241310523. PMID: 37445700Free 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
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
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
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
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

Therapy

Prins S, Zhuparris A, Hart EP, Doll RJ, Groeneveld GJ
Alzheimers Res Ther 2021 Jul 17;13(1):132. doi: 10.1186/s13195-021-00874-9. PMID: 34274005Free 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
Liu E, Wang D, Sperling R, Salloway S, Fox NC, Blennow K, Scheltens P, Schmidt ME, Streffer J, Novak G, Einstein S, Booth K, Ketter N, Brashear HR; ELN115727-301/302 Investigator Group
Neurology 2018 Mar 6;90(10):e877-e886. Epub 2018 Feb 2 doi: 10.1212/WNL.0000000000005060. PMID: 29429971
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
Shaw LM, Vanderstichele H, Knapik-Czajka M, Figurski M, Coart E, Blennow K, Soares H, Simon AJ, Lewczuk P, Dean RA, Siemers E, Potter W, Lee VM, Trojanowski JQ; Alzheimer's Disease Neuroimaging Initiative
Acta Neuropathol 2011 May;121(5):597-609. Epub 2011 Feb 11 doi: 10.1007/s00401-011-0808-0. PMID: 21311900Free PMC Article

Prognosis

Bolsewig K, van Unnik AAJM, Blujdea ER, Gonzalez MC, Ashton NJ, Aarsland D, Zetterberg H, Padovani A, Bonanni L, Mollenhauer B, Schade S, Vandenberghe R, Poesen K, Kramberger MG, Paquet C, Bousiges O, Cretin B, Willemse EAJ, Teunissen CE, Lemstra AW; European-Dementia With Lewy Bodies (E-DLB) Consortium
Neurology 2024 Jun 25;102(12):e209418. Epub 2024 Jun 3 doi: 10.1212/WNL.0000000000209418. PMID: 38830138Free PMC Article
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
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
Liu E, Wang D, Sperling R, Salloway S, Fox NC, Blennow K, Scheltens P, Schmidt ME, Streffer J, Novak G, Einstein S, Booth K, Ketter N, Brashear HR; ELN115727-301/302 Investigator Group
Neurology 2018 Mar 6;90(10):e877-e886. Epub 2018 Feb 2 doi: 10.1212/WNL.0000000000005060. PMID: 29429971

Clinical prediction guides

Bolsewig K, van Unnik AAJM, Blujdea ER, Gonzalez MC, Ashton NJ, Aarsland D, Zetterberg H, Padovani A, Bonanni L, Mollenhauer B, Schade S, Vandenberghe R, Poesen K, Kramberger MG, Paquet C, Bousiges O, Cretin B, Willemse EAJ, Teunissen CE, Lemstra AW; European-Dementia With Lewy Bodies (E-DLB) Consortium
Neurology 2024 Jun 25;102(12):e209418. Epub 2024 Jun 3 doi: 10.1212/WNL.0000000000209418. PMID: 38830138Free PMC Article
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
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

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