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Abnormal CSF neopterin concentration

MedGen UID:
893141
•Concept ID:
C4073151
•
Finding
Synonym: Abnormal CSF neopterin level
 
HPO: HP:0040203

Definition

Abnormal concentration of neopterin in the cerebrospinal fluid (CSF). [from HPO]

Recent clinical studies

Etiology

COVID-19 Recovery: Consistent Absence of Cerebrospinal Fluid Biomarker Abnormalities in Patients With Neurocognitive Post-COVID Complications.
Kanberg N, Grahn A, Stentoft E, Bremell D, Yilmaz A, Studahl M, Nilsson S, Schöll M, Gostner JM, Blennow K, Zetterberg H, Padmanabhan N, Cohen R, Misaghian S, Romero D, Campbell C, Mathew A, Wang M, Sigal G, Stengelin M, Edén A, Gisslén M
J Infect Dis 2024 Feb 14;229(2):493-501. doi: 10.1093/infdis/jiad395. PMID: 37874918Free PMC Article
Cerebrospinal Fluid Concentrations of Neurotransmitters in a Greek Pediatric Reference Population.
Vilanakis E, Papakonstantinou E, Paramera E, Argyri I, Drakou E, Kokkinou E, Zouvelou V, Outsika C, Pons R
Neuropediatrics 2023 Apr;54(2):126-133. Epub 2022 Nov 28 doi: 10.1055/a-1988-2412. PMID: 36442788
Cerebrospinal fluid neopterin decay characteristics after initiation of antiretroviral therapy.
Yilmaz A, Yiannoutsos CT, Fuchs D, Price RW, Crozier K, Hagberg L, Spudich S, Gisslén M
J Neuroinflammation 2013 May 10;10:62. doi: 10.1186/1742-2094-10-62. PMID: 23664008Free PMC Article
Cerebrospinal fluid and neuroimaging biomarker abnormalities suggest early neurological injury in a subset of individuals during primary HIV infection.
Peluso MJ, Meyerhoff DJ, Price RW, Peterson J, Lee E, Young AC, Walter R, Fuchs D, Brew BJ, Cinque P, Robertson K, Hagberg L, Zetterberg H, Gisslén M, Spudich S
J Infect Dis 2013 Jun 1;207(11):1703-12. Epub 2013 Mar 4 doi: 10.1093/infdis/jit088. PMID: 23460748Free PMC Article
Serum concentrations of circulating endogenous granulocyte-macrophage colony-stimulating factor in HIV-1-seropositive injecting drug users.
Herold M, Meise U, Günther V, Rössler H, Zangerle R
Presse Med 1994 Dec 17;23(40):1854-8. PMID: 7899316

Diagnosis

Cerebrospinal Fluid Concentrations of Neurotransmitters in a Greek Pediatric Reference Population.
Vilanakis E, Papakonstantinou E, Paramera E, Argyri I, Drakou E, Kokkinou E, Zouvelou V, Outsika C, Pons R
Neuropediatrics 2023 Apr;54(2):126-133. Epub 2022 Nov 28 doi: 10.1055/a-1988-2412. PMID: 36442788
Correlations between cerebrospinal fluid biomarkers, neurocognitive tests, and resting-state electroencephalography (rsEEG) in patients with HIV-associated neurocognitive disorders.
Barco A, Orlando S, Stroffolini G, Pirriatore V, Lazzaro A, Vai D, Guastamacchia G, Noce G, Atzori C, Trunfio M, Bonora S, Di Perri G, Calcagno A
J Neurovirol 2022 Apr;28(2):226-235. Epub 2022 Jan 19 doi: 10.1007/s13365-021-01047-y. PMID: 35044644
Cerebrospinal fluid and neuroimaging biomarker abnormalities suggest early neurological injury in a subset of individuals during primary HIV infection.
Peluso MJ, Meyerhoff DJ, Price RW, Peterson J, Lee E, Young AC, Walter R, Fuchs D, Brew BJ, Cinque P, Robertson K, Hagberg L, Zetterberg H, Gisslén M, Spudich S
J Infect Dis 2013 Jun 1;207(11):1703-12. Epub 2013 Mar 4 doi: 10.1093/infdis/jit088. PMID: 23460748Free PMC Article
Two Greek siblings with sepiapterin reductase deficiency.
Verbeek MM, Willemsen MAAP, Wevers RA, Lagerwerf AJ, Abeling NGGM, Blau N, Thöny B, Vargiami E, Zafeiriou DI
Mol Genet Metab 2008 Aug;94(4):403-409. Epub 2008 May 27 doi: 10.1016/j.ymgme.2008.04.003. PMID: 18502672
Persistent intrathecal immune activation in HIV-1-infected individuals on antiretroviral therapy.
Yilmaz A, Price RW, Spudich S, Fuchs D, Hagberg L, Gisslén M
J Acquir Immune Defic Syndr 2008 Feb 1;47(2):168-73. doi: 10.1097/QAI.0b013e31815ace97. PMID: 17971711Free PMC Article

Therapy

Sepiapterin reductase deficiency in a 2-year-old girl with incomplete response to treatment during short-term follow-up.
Kusmierska K, Jansen EE, Jakobs C, Szymanska K, Malunowicz E, Meilei D, Thony B, Blau N, Tryfon J, Rokicki D, Pronicka E, Sykut-Cegielska J
J Inherit Metab Dis 2009 Dec;32 Suppl 1:S5-10. Epub 2009 Jan 7 doi: 10.1007/s10545-008-1009-4. PMID: 19130291
Failure of atorvastatin to modulate CSF HIV-1 infection: results of a pilot study.
Probasco JC, Spudich SS, Critchfield J, Lee E, Lollo N, Deeks SG, Price RW
Neurology 2008 Aug 12;71(7):521-4. doi: 10.1212/01.wnl.0000325006.84658.e7. PMID: 18695163Free PMC Article
Persistent intrathecal immune activation in HIV-1-infected individuals on antiretroviral therapy.
Yilmaz A, Price RW, Spudich S, Fuchs D, Hagberg L, Gisslén M
J Acquir Immune Defic Syndr 2008 Feb 1;47(2):168-73. doi: 10.1097/QAI.0b013e31815ace97. PMID: 17971711Free PMC Article
Cerebrospinal fluid pterins and folates in Aicardi-Goutières syndrome: a new phenotype.
Blau N, Bonafé L, Krägeloh-Mann I, Thöny B, Kierat L, Häusler M, Ramaekers V
Neurology 2003 Sep 9;61(5):642-7. doi: 10.1212/01.wnl.0000082726.08631.e7. PMID: 12963755
Tetrahydrobiopterin in dystonia: identification of abnormal metabolism and therapeutic trials.
LeWitt PA, Miller LP, Levine RA, Lovenberg W, Newman RP, Papavasiliou A, Rayes A, Eldridge R, Burns RS
Neurology 1986 Jun;36(6):760-4. doi: 10.1212/wnl.36.6.760. PMID: 3703282

Prognosis

Cerebrospinal fluid neopterin decay characteristics after initiation of antiretroviral therapy.
Yilmaz A, Yiannoutsos CT, Fuchs D, Price RW, Crozier K, Hagberg L, Spudich S, Gisslén M
J Neuroinflammation 2013 May 10;10:62. doi: 10.1186/1742-2094-10-62. PMID: 23664008Free PMC Article
Sepiapterin reductase deficiency in a 2-year-old girl with incomplete response to treatment during short-term follow-up.
Kusmierska K, Jansen EE, Jakobs C, Szymanska K, Malunowicz E, Meilei D, Thony B, Blau N, Tryfon J, Rokicki D, Pronicka E, Sykut-Cegielska J
J Inherit Metab Dis 2009 Dec;32 Suppl 1:S5-10. Epub 2009 Jan 7 doi: 10.1007/s10545-008-1009-4. PMID: 19130291

Clinical prediction guides

Correlations between cerebrospinal fluid biomarkers, neurocognitive tests, and resting-state electroencephalography (rsEEG) in patients with HIV-associated neurocognitive disorders.
Barco A, Orlando S, Stroffolini G, Pirriatore V, Lazzaro A, Vai D, Guastamacchia G, Noce G, Atzori C, Trunfio M, Bonora S, Di Perri G, Calcagno A
J Neurovirol 2022 Apr;28(2):226-235. Epub 2022 Jan 19 doi: 10.1007/s13365-021-01047-y. PMID: 35044644
Cerebrospinal fluid neopterin decay characteristics after initiation of antiretroviral therapy.
Yilmaz A, Yiannoutsos CT, Fuchs D, Price RW, Crozier K, Hagberg L, Spudich S, Gisslén M
J Neuroinflammation 2013 May 10;10:62. doi: 10.1186/1742-2094-10-62. PMID: 23664008Free PMC Article
Failure of atorvastatin to modulate CSF HIV-1 infection: results of a pilot study.
Probasco JC, Spudich SS, Critchfield J, Lee E, Lollo N, Deeks SG, Price RW
Neurology 2008 Aug 12;71(7):521-4. doi: 10.1212/01.wnl.0000325006.84658.e7. PMID: 18695163Free PMC Article
Two Greek siblings with sepiapterin reductase deficiency.
Verbeek MM, Willemsen MAAP, Wevers RA, Lagerwerf AJ, Abeling NGGM, Blau N, Thöny B, Vargiami E, Zafeiriou DI
Mol Genet Metab 2008 Aug;94(4):403-409. Epub 2008 May 27 doi: 10.1016/j.ymgme.2008.04.003. PMID: 18502672
Tetrahydrobiopterin in dystonia: identification of abnormal metabolism and therapeutic trials.
LeWitt PA, Miller LP, Levine RA, Lovenberg W, Newman RP, Papavasiliou A, Rayes A, Eldridge R, Burns RS
Neurology 1986 Jun;36(6):760-4. doi: 10.1212/wnl.36.6.760. PMID: 3703282

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