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Decreased CSF copper concentration

MedGen UID:
1842043
Concept ID:
C5826684
Finding
Synonym: Copper low in cerebrospinal fluid
 
HPO: HP:0034823

Definition

Concentration of copper in the cerebrospinal fluid (CSF) below the lower limit of normal. [from HPO]

Term Hierarchy

Conditions with this feature

Neurodegeneration and seizures due to copper transport defect
MedGen UID:
1841021
Concept ID:
C5830385
Disease or Syndrome
Neurodegeneration and seizures due to copper transport defect (NSCT) is an autosomal recessive disorder of copper transport characterized by hypotonia, global developmental delay, seizures, and rapid brain atrophy (summary by Dame et al., 2023).

Professional guidelines

PubMed

Stuerenburg HJ
J Neural Transm (Vienna) 2000;107(3):321-9. doi: 10.1007/s007020050026. PMID: 10821440

Recent clinical studies

Etiology

Adani G, Filippini T, Michalke B, Vinceti M
Neuroepidemiology 2020;54(1):1-23. Epub 2019 Aug 27 doi: 10.1159/000502357. PMID: 31454800
De Riccardis L, Buccolieri A, Muci M, Pitotti E, De Robertis F, Trianni G, Manno D, Maffia M
Biochim Biophys Acta Mol Basis Dis 2018 May;1864(5 Pt A):1828-1838. Epub 2018 Mar 8 doi: 10.1016/j.bbadis.2018.03.007. PMID: 29524632
Romarís EM, Cervantes II, López JM, Marcén JF
J Trace Elem Med Biol 2011 Jan;25 Suppl 1:S45-9. Epub 2010 Dec 13 doi: 10.1016/j.jtemb.2010.10.009. PMID: 21146970
Jiménez-Jiménez FJ, Molina JA, Aguilar MV, Meseguer I, Mateos-Vega CJ, González-Muñoz MJ, de Bustos F, Martínez-Salio A, Ortí-Pareja M, Zurdo M, Martínez-Para MC
J Neural Transm (Vienna) 1998;105(4-5):497-505. doi: 10.1007/s007020050073. PMID: 9720977
Kapaki E, Segditsa J, Papageorgiou C
Acta Neurol Scand 1989 May;79(5):373-8. doi: 10.1111/j.1600-0404.1989.tb03803.x. PMID: 2545071

Diagnosis

Khanolkar B, Shende P
Drug Dev Ind Pharm 2024 Apr;50(4):341-353. Epub 2024 Mar 21 doi: 10.1080/03639045.2024.2328722. PMID: 38470160
Prasad R, Anil, Mishra OP, Mishra SP, Upadhyay RS, Singh TB
Pediatr Infect Dis J 2012 Oct;31(10):1012-5. doi: 10.1097/INF.0b013e31825cf1d7. PMID: 22572748
Weisner B, Hartard C, Dieu C
J Neurol Sci 1987 Jun;79(1-2):229-37. doi: 10.1016/0022-510x(87)90275-9. PMID: 3612170

Therapy

De Riccardis L, Buccolieri A, Muci M, Pitotti E, De Robertis F, Trianni G, Manno D, Maffia M
Biochim Biophys Acta Mol Basis Dis 2018 May;1864(5 Pt A):1828-1838. Epub 2018 Mar 8 doi: 10.1016/j.bbadis.2018.03.007. PMID: 29524632
Adamczyk-Sowa M, Sowa P, Pierzchala K, Polaniak R, Labuz-Roszak B
J Physiol Pharmacol 2012 Dec;63(6):683-90. PMID: 23388485
Stuerenburg HJ
J Neural Transm (Vienna) 2000;107(3):321-9. doi: 10.1007/s007020050026. PMID: 10821440
Hartard C, Weisner B, Dieu C, Kunze K
J Neurol 1993 Dec;241(2):101-7. doi: 10.1007/BF00869772. PMID: 8138824
Weisner B, Hartard C, Dieu C
J Neurol Sci 1987 Jun;79(1-2):229-37. doi: 10.1016/0022-510x(87)90275-9. PMID: 3612170

Prognosis

Stuerenburg HJ
J Neural Transm (Vienna) 2000;107(3):321-9. doi: 10.1007/s007020050026. PMID: 10821440
Hartard C, Weisner B, Dieu C, Kunze K
J Neurol 1993 Dec;241(2):101-7. doi: 10.1007/BF00869772. PMID: 8138824
Weisner B, Hartard C, Dieu C
J Neurol Sci 1987 Jun;79(1-2):229-37. doi: 10.1016/0022-510x(87)90275-9. PMID: 3612170

Clinical prediction guides

Khanolkar B, Shende P
Drug Dev Ind Pharm 2024 Apr;50(4):341-353. Epub 2024 Mar 21 doi: 10.1080/03639045.2024.2328722. PMID: 38470160
Díaz G, Lengele L, Sourdet S, Soriano G, de Souto Barreto P
Ageing Res Rev 2022 Nov;81:101728. Epub 2022 Aug 30 doi: 10.1016/j.arr.2022.101728. PMID: 36049590
Prasad R, Anil, Mishra OP, Mishra SP, Upadhyay RS, Singh TB
Pediatr Infect Dis J 2012 Oct;31(10):1012-5. doi: 10.1097/INF.0b013e31825cf1d7. PMID: 22572748
Romarís EM, Cervantes II, López JM, Marcén JF
J Trace Elem Med Biol 2011 Jan;25 Suppl 1:S45-9. Epub 2010 Dec 13 doi: 10.1016/j.jtemb.2010.10.009. PMID: 21146970
Jiménez-Jiménez FJ, Molina JA, Aguilar MV, Meseguer I, Mateos-Vega CJ, González-Muñoz MJ, de Bustos F, Martínez-Salio A, Ortí-Pareja M, Zurdo M, Martínez-Para MC
J Neural Transm (Vienna) 1998;105(4-5):497-505. doi: 10.1007/s007020050073. PMID: 9720977

Recent systematic reviews

Adani G, Filippini T, Michalke B, Vinceti M
Neuroepidemiology 2020;54(1):1-23. Epub 2019 Aug 27 doi: 10.1159/000502357. PMID: 31454800

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