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Increased amyloid beta 40 peptide CSF concentration

MedGen UID:
1814200
•Concept ID:
C5676622
•
Finding
HPO: HP:0025687

Definition

An elevation above the normal concentration of amyloid beta 40 peptide in the cerebrospinal fluid (CSF). [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVIncreased amyloid beta 40 peptide CSF concentration

Professional guidelines

PubMed

Differential levels of p75NTR ectodomain in CSF and blood in patients with Alzheimer's disease: a novel diagnostic marker.
Jiao SS, Bu XL, Liu YH, Wang QH, Liu CH, Yao XQ, Zhou XF, Wang YJ
Transl Psychiatry 2015 Oct 6;5(10):e650. doi: 10.1038/tp.2015.146. PMID: 26440538Free PMC Article
Relationship between apoE genotype and CSF beta-amyloid (1-42) and tau in patients with probable and definite Alzheimer's disease.
Tapiola T, Pirttilä T, Mehta PD, Alafuzofff I, Lehtovirta M, Soininen H
Neurobiol Aging 2000 Sep-Oct;21(5):735-40. doi: 10.1016/s0197-4580(00)00164-0. PMID: 11016543
CSF beta-amyloid, cognition, and APOE genotype in Alzheimer's disease.
Samuels SC, Silverman JM, Marin DB, Peskind ER, Younki SG, Greenberg DA, Schnur E, Santoro J, Davis KL
Neurology 1999 Feb;52(3):547-51. doi: 10.1212/wnl.52.3.547. PMID: 10025785

Recent clinical studies

Etiology

Biomarkers of neurodegeneration and neural injury as potential predictors for delirium.
Fong TG, Vasunilashorn SM, Kivisäkk P, Metzger ED, Schmitt EM, Marcantonio ER, Jones RN, Shanes HT, Arnold SE, Inouye SK, Ngo LH
Int J Geriatr Psychiatry 2024 Jan;39(1):e6044. doi: 10.1002/gps.6044. PMID: 38161287Free PMC Article
Acute sleep loss decreases CSF-to-blood clearance of Alzheimer's disease biomarkers.
Liu H, Barthélemy NR, Ovod V, Bollinger JG, He Y, Chahin SL, Androff B, Bateman RJ, Lucey BP
Alzheimers Dement 2023 Jul;19(7):3055-3064. Epub 2023 Jan 25 doi: 10.1002/alz.12930. PMID: 36695437Free PMC Article
Plasma GFAP is an early marker of amyloid-β but not tau pathology in Alzheimer's disease.
Pereira JB, Janelidze S, Smith R, Mattsson-Carlgren N, Palmqvist S, Teunissen CE, Zetterberg H, Stomrud E, Ashton NJ, Blennow K, Hansson O
Brain 2021 Dec 16;144(11):3505-3516. doi: 10.1093/brain/awab223. PMID: 34259835Free PMC Article
Clinical significance of fluid biomarkers in Alzheimer's Disease.
Lewczuk P, Łukaszewicz-Zając M, Mroczko P, Kornhuber J
Pharmacol Rep 2020 Jun;72(3):528-542. Epub 2020 May 8 doi: 10.1007/s43440-020-00107-0. PMID: 32385624Free PMC Article
β-Amyloid in CSF: Biomarker for preclinical cerebral amyloid angiopathy.
van Etten ES, Verbeek MM, van der Grond J, Zielman R, van Rooden S, van Zwet EW, van Opstal AM, Haan J, Greenberg SM, van Buchem MA, Wermer MJ, Terwindt GM
Neurology 2017 Jan 10;88(2):169-176. Epub 2016 Nov 30 doi: 10.1212/WNL.0000000000003486. PMID: 27903811Free PMC Article

Diagnosis

Biomarkers of neurodegeneration and neural injury as potential predictors for delirium.
Fong TG, Vasunilashorn SM, Kivisäkk P, Metzger ED, Schmitt EM, Marcantonio ER, Jones RN, Shanes HT, Arnold SE, Inouye SK, Ngo LH
Int J Geriatr Psychiatry 2024 Jan;39(1):e6044. doi: 10.1002/gps.6044. PMID: 38161287Free PMC Article
Clinical and biomarker changes of Alzheimer's disease in adults with Down syndrome: a cross-sectional study.
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 significance of fluid biomarkers in Alzheimer's Disease.
Lewczuk P, Łukaszewicz-Zając M, Mroczko P, Kornhuber J
Pharmacol Rep 2020 Jun;72(3):528-542. Epub 2020 May 8 doi: 10.1007/s43440-020-00107-0. PMID: 32385624Free PMC Article
β-Amyloid in CSF: Biomarker for preclinical cerebral amyloid angiopathy.
van Etten ES, Verbeek MM, van der Grond J, Zielman R, van Rooden S, van Zwet EW, van Opstal AM, Haan J, Greenberg SM, van Buchem MA, Wermer MJ, Terwindt GM
Neurology 2017 Jan 10;88(2):169-176. Epub 2016 Nov 30 doi: 10.1212/WNL.0000000000003486. PMID: 27903811Free PMC Article
Combined CSF tau, p-tau181 and amyloid-beta 38/40/42 for diagnosing Alzheimer's disease.
Welge V, Fiege O, Lewczuk P, Mollenhauer B, Esselmann H, Klafki HW, Wolf S, Trenkwalder C, Otto M, Kornhuber J, Wiltfang J, Bibl M
J Neural Transm (Vienna) 2009 Feb;116(2):203-12. Epub 2009 Jan 14 doi: 10.1007/s00702-008-0177-6. PMID: 19142572

Therapy

Clinical and biomarker changes of Alzheimer's disease in adults with Down syndrome: a cross-sectional study.
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
Pharmacokinetics and pharmacodynamic effect of crenezumab on plasma and cerebrospinal fluid beta-amyloid in patients with mild-to-moderate Alzheimer's disease.
Yoshida K, Moein A, Bittner T, Ostrowitzki S, Lin H, Honigberg L, Jin JY, Quartino A
Alzheimers Res Ther 2020 Jan 22;12(1):16. doi: 10.1186/s13195-020-0580-2. PMID: 31969177Free PMC Article
Sleep deprivation and cerebrospinal fluid biomarkers for Alzheimer's disease.
Olsson M, Ärlig J, Hedner J, Blennow K, Zetterberg H
Sleep 2018 May 1;41(5) doi: 10.1093/sleep/zsy025. PMID: 29425372
Anti-amyloid β autoantibodies in cerebral amyloid angiopathy-related inflammation: implications for amyloid-modifying therapies.
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
Safety, tolerability, and effects on plasma and cerebrospinal fluid amyloid-beta after inhibition of gamma-secretase.
Siemers ER, Dean RA, Friedrich S, Ferguson-Sells L, Gonzales C, Farlow MR, May PC
Clin Neuropharmacol 2007 Nov-Dec;30(6):317-25. doi: 10.1097/WNF.0b013e31805b7660. PMID: 18090456

Prognosis

Biomarkers of neurodegeneration and neural injury as potential predictors for delirium.
Fong TG, Vasunilashorn SM, Kivisäkk P, Metzger ED, Schmitt EM, Marcantonio ER, Jones RN, Shanes HT, Arnold SE, Inouye SK, Ngo LH
Int J Geriatr Psychiatry 2024 Jan;39(1):e6044. doi: 10.1002/gps.6044. PMID: 38161287Free PMC Article
Plasma GFAP is an early marker of amyloid-β but not tau pathology in Alzheimer's disease.
Pereira JB, Janelidze S, Smith R, Mattsson-Carlgren N, Palmqvist S, Teunissen CE, Zetterberg H, Stomrud E, Ashton NJ, Blennow K, Hansson O
Brain 2021 Dec 16;144(11):3505-3516. doi: 10.1093/brain/awab223. PMID: 34259835Free PMC Article
Clinical and biomarker changes of Alzheimer's disease in adults with Down syndrome: a cross-sectional study.
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 significance of fluid biomarkers in Alzheimer's Disease.
Lewczuk P, Łukaszewicz-Zając M, Mroczko P, Kornhuber J
Pharmacol Rep 2020 Jun;72(3):528-542. Epub 2020 May 8 doi: 10.1007/s43440-020-00107-0. PMID: 32385624Free PMC Article
Detecting At-Risk Alzheimer's Disease Cases.
Fladby T, Pålhaugen L, Selnes P, Waterloo K, Bråthen G, Hessen E, Almdahl IS, Arntzen KA, Auning E, Eliassen CF, Espenes R, Grambaite R, Grøntvedt GR, Johansen KK, Johnsen SH, Kalheim LF, Kirsebom BE, Müller KI, Nakling AE, Rongve A, Sando SB, Siafarikas N, Stav AL, Tecelao S, Timon S, Bekkelund SI, Aarsland D
J Alzheimers Dis 2017;60(1):97-105. doi: 10.3233/JAD-170231. PMID: 28826181Free PMC Article

Clinical prediction guides

Biomarkers of neurodegeneration and neural injury as potential predictors for delirium.
Fong TG, Vasunilashorn SM, Kivisäkk P, Metzger ED, Schmitt EM, Marcantonio ER, Jones RN, Shanes HT, Arnold SE, Inouye SK, Ngo LH
Int J Geriatr Psychiatry 2024 Jan;39(1):e6044. doi: 10.1002/gps.6044. PMID: 38161287Free PMC Article
Plasma GFAP is an early marker of amyloid-β but not tau pathology in Alzheimer's disease.
Pereira JB, Janelidze S, Smith R, Mattsson-Carlgren N, Palmqvist S, Teunissen CE, Zetterberg H, Stomrud E, Ashton NJ, Blennow K, Hansson O
Brain 2021 Dec 16;144(11):3505-3516. doi: 10.1093/brain/awab223. PMID: 34259835Free PMC Article
Clinical and biomarker changes of Alzheimer's disease in adults with Down syndrome: a cross-sectional study.
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
CSF neurofilament light concentration is increased in presymptomatic CHMP2B mutation carriers.
Rostgaard N, Roos P, Portelius E, Blennow K, Zetterberg H, Simonsen AH, Nielsen JE
Neurology 2018 Jan 9;90(2):e157-e163. Epub 2017 Dec 13 doi: 10.1212/WNL.0000000000004799. PMID: 29237796Free PMC Article
Detecting At-Risk Alzheimer's Disease Cases.
Fladby T, Pålhaugen L, Selnes P, Waterloo K, Bråthen G, Hessen E, Almdahl IS, Arntzen KA, Auning E, Eliassen CF, Espenes R, Grambaite R, Grøntvedt GR, Johansen KK, Johnsen SH, Kalheim LF, Kirsebom BE, Müller KI, Nakling AE, Rongve A, Sando SB, Siafarikas N, Stav AL, Tecelao S, Timon S, Bekkelund SI, Aarsland D
J Alzheimers Dis 2017;60(1):97-105. doi: 10.3233/JAD-170231. PMID: 28826181Free PMC Article

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