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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]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAbnormal CSF neopterin concentration

Congenital Systemic Disorder
- Abnormality of the nervous system
  - Abnormal nervous system morphology
    - Morphological central nervous system abnormality
      - Abnormal cerebrospinal fluid morphology
        Abnormal CSF metabolite concentration
        Abnormal CSF neopterin concentration
        Decreased CSF neopterin level
        Elevated CSF neopterin level

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: 37874918 Free 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: 23664008 Free 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: 23460748 Free 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

See all (6)

Diagnosis

Cerebrospinal Fluid Concentrations of Neurotransmitters in a Greek Pediatric Reference Population.

Cerebrospinal fluid and neuroimaging biomarker abnormalities suggest early neurological injury in a subset of individuals during primary HIV infection.

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: 17971711 Free 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

See all (7)

Therapy

Human T-lymphotropic virus type-I (HTLV-I)-associated myelopathy with bulbar palsy-type amyotrophic lateral sclerosis-like symptoms.

Ando R, Nishikawa N, Tsujii T, Iwaki H, Yabe H, Nagai M, Nomoto M
Intern Med 2015;54(9):1105-7. Epub 2015 May 1 doi: 10.2169/internalmedicine.54.3660. PMID: 25948358

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: 18695163 Free 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: 17971711 Free 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

See all (6)

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: 23664008 Free PMC Article

Sepiapterin reductase deficiency in a 2-year-old girl with incomplete response to treatment during short-term follow-up.

See all (2)

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: 23664008 Free PMC Article

Sepiapterin reductase deficiency in a 2-year-old girl with incomplete response to treatment during short-term follow-up.

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: 18695163 Free PMC Article

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

See all (6)

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Abnormal CSF neopterin concentration

Definition

Term Hierarchy

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

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