Nucleotide degradation products in cerebrospinal fluid (CSF) in inherited and acquired pathologies

L. D. Fairbanks, James C O Harris, J. A. Duley, H. A. Simmonds

Research output: Contribution to journalArticle

Abstract

CSF purines were grossly elevated compared with controls only in adenylosuccinate lyase (ADSL) deficiency and TB meningitis. The former representing low permeability, the latter severe damage to the normal blood/brain barrier. By contrast, the similarity to controls, with no difference between Lesch-Nyhan disease (LND) or LND variants, would exclude hypoxia as a factor in the severe neurological deficits in LND. Similar findings in purine nucleoside phosphorylase (PNP) deficiency (although nucleosides replace the normal bases) likewise exclude hypoxia in the aetiology of the albeit milder neurological deficits.

Original languageEnglish (US)
Pages (from-to)1185-1187
Number of pages3
JournalNucleosides, Nucleotides and Nucleic Acids
Volume23
Issue number8-9
DOIs
StatePublished - 2004

Fingerprint

Lesch-Nyhan Syndrome
Cerebrospinal fluid
Pathology
Cerebrospinal Fluid
Nucleotides
Degradation
Adenylosuccinate Lyase
Purine-Nucleoside Phosphorylase
Purines
Meningeal Tuberculosis
Blood-Brain Barrier
Nucleosides
Permeability
Hypoxia

Keywords

  • Adenylosuccinase deficiency
  • CSF purines
  • Lesch-Nyhan disease
  • Phosphorylase deficiency
  • Purine nucleoside
  • TB meningitis

ASJC Scopus subject areas

  • Genetics
  • Biochemistry

Cite this

Nucleotide degradation products in cerebrospinal fluid (CSF) in inherited and acquired pathologies. / Fairbanks, L. D.; Harris, James C O; Duley, J. A.; Simmonds, H. A.

In: Nucleosides, Nucleotides and Nucleic Acids, Vol. 23, No. 8-9, 2004, p. 1185-1187.

Research output: Contribution to journalArticle

@article{ed19f557bb6949dcba6378400a858040,
title = "Nucleotide degradation products in cerebrospinal fluid (CSF) in inherited and acquired pathologies",
abstract = "CSF purines were grossly elevated compared with controls only in adenylosuccinate lyase (ADSL) deficiency and TB meningitis. The former representing low permeability, the latter severe damage to the normal blood/brain barrier. By contrast, the similarity to controls, with no difference between Lesch-Nyhan disease (LND) or LND variants, would exclude hypoxia as a factor in the severe neurological deficits in LND. Similar findings in purine nucleoside phosphorylase (PNP) deficiency (although nucleosides replace the normal bases) likewise exclude hypoxia in the aetiology of the albeit milder neurological deficits.",
keywords = "Adenylosuccinase deficiency, CSF purines, Lesch-Nyhan disease, Phosphorylase deficiency, Purine nucleoside, TB meningitis",
author = "Fairbanks, {L. D.} and Harris, {James C O} and Duley, {J. A.} and Simmonds, {H. A.}",
year = "2004",
doi = "10.1081/NCN-200027451",
language = "English (US)",
volume = "23",
pages = "1185--1187",
journal = "Nucleosides and Nucleotides",
issn = "0732-8311",
publisher = "Taylor and Francis Ltd.",
number = "8-9",

}

TY - JOUR

T1 - Nucleotide degradation products in cerebrospinal fluid (CSF) in inherited and acquired pathologies

AU - Fairbanks, L. D.

AU - Harris, James C O

AU - Duley, J. A.

AU - Simmonds, H. A.

PY - 2004

Y1 - 2004

N2 - CSF purines were grossly elevated compared with controls only in adenylosuccinate lyase (ADSL) deficiency and TB meningitis. The former representing low permeability, the latter severe damage to the normal blood/brain barrier. By contrast, the similarity to controls, with no difference between Lesch-Nyhan disease (LND) or LND variants, would exclude hypoxia as a factor in the severe neurological deficits in LND. Similar findings in purine nucleoside phosphorylase (PNP) deficiency (although nucleosides replace the normal bases) likewise exclude hypoxia in the aetiology of the albeit milder neurological deficits.

AB - CSF purines were grossly elevated compared with controls only in adenylosuccinate lyase (ADSL) deficiency and TB meningitis. The former representing low permeability, the latter severe damage to the normal blood/brain barrier. By contrast, the similarity to controls, with no difference between Lesch-Nyhan disease (LND) or LND variants, would exclude hypoxia as a factor in the severe neurological deficits in LND. Similar findings in purine nucleoside phosphorylase (PNP) deficiency (although nucleosides replace the normal bases) likewise exclude hypoxia in the aetiology of the albeit milder neurological deficits.

KW - Adenylosuccinase deficiency

KW - CSF purines

KW - Lesch-Nyhan disease

KW - Phosphorylase deficiency

KW - Purine nucleoside

KW - TB meningitis

UR - http://www.scopus.com/inward/record.url?scp=10344226204&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=10344226204&partnerID=8YFLogxK

U2 - 10.1081/NCN-200027451

DO - 10.1081/NCN-200027451

M3 - Article

VL - 23

SP - 1185

EP - 1187

JO - Nucleosides and Nucleotides

JF - Nucleosides and Nucleotides

SN - 0732-8311

IS - 8-9

ER -