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Increased CSF N-acetylaspartic acid concentration

MedGen UID:
1689724
Concept ID:
C5139236
Finding
Synonyms: Increased N-acetyl aspartate levels in CSF; Increased N-acetyl aspartic acid levels in CSF; Increased N-acetyl-L-aspartic acid levels in CSF; Increased N-acetylaspartate levels in CSF; Increased NAA levels in CSF
 
HPO: HP:0032274

Definition

An abnormally increased concentration of N-acetylaspartic acid in the cerebrospinal fluid (CSF). [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVIncreased CSF N-acetylaspartic acid concentration

Conditions with this feature

Spongy degeneration of central nervous system
MedGen UID:
61565
Concept ID:
C0206307
Disease or Syndrome
Most individuals with Canavan disease have the neonatal/infantile form. Although such infants appear normal early in life, by age three to five months, hypotonia, head lag, macrocephaly, and developmental delays become apparent. With age, children with neonatal/infantile-onset Canavan disease often become irritable and experience sleep disturbance, seizures, and feeding difficulties. Swallowing deteriorates, and some children require nasogastric feeding or permanent feeding gastrostomies. Joint stiffness increases, so that these children resemble individuals with cerebral palsy. Children with mild/juvenile Canavan disease may have normal or mildly delayed speech or motor development early in life without regression. In spite of developmental delay most of these children can be educated in typical classroom settings and may benefit from speech therapy or tutoring as needed. Most children with mild forms of Canavan disease have normal head size, although macrocephaly, retinitis pigmentosa, and seizures have been reported in a few individuals.

Professional guidelines

PubMed

Voevodskaya O, Sundgren PC, Strandberg O, Zetterberg H, Minthon L, Blennow K, Wahlund LO, Westman E, Hansson O; Swedish BioFINDER study group
Neurology 2016 May 10;86(19):1754-61. Epub 2016 Apr 15 doi: 10.1212/WNL.0000000000002672. PMID: 27164711Free PMC Article

Recent clinical studies

Etiology

Voevodskaya O, Sundgren PC, Strandberg O, Zetterberg H, Minthon L, Blennow K, Wahlund LO, Westman E, Hansson O; Swedish BioFINDER study group
Neurology 2016 May 10;86(19):1754-61. Epub 2016 Apr 15 doi: 10.1212/WNL.0000000000002672. PMID: 27164711Free PMC Article
Kirov II, Tal A, Babb JS, Herbert J, Gonen O
Neurology 2013 Jan 1;80(1):39-46. Epub 2012 Nov 21 doi: 10.1212/WNL.0b013e31827b1a8c. PMID: 23175732Free PMC Article
Harris VK, Sadiq SA
Mol Diagn Ther 2009;13(4):225-44. doi: 10.1007/BF03256329. PMID: 19712003
Molina V, Sánchez J, Sanz J, Reig S, Benito C, Leal I, Sarramea F, Rebolledo R, Palomo T, Desco M
Eur Psychiatry 2007 Nov;22(8):505-12. Epub 2007 Sep 29 doi: 10.1016/j.eurpsy.2007.07.006. PMID: 17904824
Ajilore O, Haroon E, Kumaran S, Darwin C, Binesh N, Mintz J, Miller J, Thomas MA, Kumar A
Neuropsychopharmacology 2007 Jun;32(6):1224-31. Epub 2006 Dec 20 doi: 10.1038/sj.npp.1301248. PMID: 17180124

Diagnosis

Kirov II, Tal A, Babb JS, Herbert J, Gonen O
Neurology 2013 Jan 1;80(1):39-46. Epub 2012 Nov 21 doi: 10.1212/WNL.0b013e31827b1a8c. PMID: 23175732Free PMC Article
Tortorella C, Ruggieri M, Di Monte E, Ceci E, Iaffaldano P, Direnzo V, Mastrapasqua M, Frigeri A, Amato MP, Hakiki B, Ghezzi A, Lugaresi A, De Luca G, Patti F, D'Amico E, Sola P, Simone AM, Svelto M, Livrea P, Trojano M
J Neurol Neurosurg Psychiatry 2011 Dec;82(12):1355-9. Epub 2011 May 27 doi: 10.1136/jnnp.2011.241836. PMID: 21622936
Harris VK, Sadiq SA
Mol Diagn Ther 2009;13(4):225-44. doi: 10.1007/BF03256329. PMID: 19712003
Port JD, Unal SS, Mrazek DA, Marcus SM
Psychiatry Res 2008 Feb 28;162(2):113-21. Epub 2007 Dec 31 doi: 10.1016/j.pscychresns.2007.08.004. PMID: 18164911
Molina V, Sánchez J, Sanz J, Reig S, Benito C, Leal I, Sarramea F, Rebolledo R, Palomo T, Desco M
Eur Psychiatry 2007 Nov;22(8):505-12. Epub 2007 Sep 29 doi: 10.1016/j.eurpsy.2007.07.006. PMID: 17904824

Therapy

Lentz MR, Degaonkar M, Mohamed MA, Kim H, Conant K, Halpern EF, Sacktor N, Barker PB, Pomper MG
J Neurovirol 2010 Oct;16(5):368-76. doi: 10.3109/13550284.2010.513029. PMID: 20839921Free PMC Article
Bustillo JR, Lauriello J, Rowland LM, Thomson LM, Petropoulos H, Hammond R, Hart B, Brooks WM
Schizophr Res 2002 Dec 1;58(2-3):313-21. doi: 10.1016/s0920-9964(02)00210-4. PMID: 12409172
Woermann FG, McLean MA, Bartlett PA, Barker GJ, Duncan JS
Brain 2001 Feb;124(Pt 2):427-36. doi: 10.1093/brain/124.2.427. PMID: 11157569
Chang L, Ernst T, Strickland T, Mehringer CM
Am J Psychiatry 1999 May;156(5):716-22. doi: 10.1176/ajp.156.5.716. PMID: 10327904
Maeda H, Furune S, Nomura K, Kitou O, Ando Y, Negoro T, Watanabe K
Neuropediatrics 1997 Oct;28(5):262-7. doi: 10.1055/s-2007-973711. PMID: 9413005

Prognosis

Kuroda H, Fujihara K, Mugikura S, Takahashi S, Kushimoto S, Aoki M
J Neurol Sci 2016 Jan 15;360:161-9. Epub 2015 Dec 7 doi: 10.1016/j.jns.2015.12.006. PMID: 26723994
Kirov II, Tal A, Babb JS, Herbert J, Gonen O
Neurology 2013 Jan 1;80(1):39-46. Epub 2012 Nov 21 doi: 10.1212/WNL.0b013e31827b1a8c. PMID: 23175732Free PMC Article
Tortorella C, Ruggieri M, Di Monte E, Ceci E, Iaffaldano P, Direnzo V, Mastrapasqua M, Frigeri A, Amato MP, Hakiki B, Ghezzi A, Lugaresi A, De Luca G, Patti F, D'Amico E, Sola P, Simone AM, Svelto M, Livrea P, Trojano M
J Neurol Neurosurg Psychiatry 2011 Dec;82(12):1355-9. Epub 2011 May 27 doi: 10.1136/jnnp.2011.241836. PMID: 21622936
Lentz MR, Degaonkar M, Mohamed MA, Kim H, Conant K, Halpern EF, Sacktor N, Barker PB, Pomper MG
J Neurovirol 2010 Oct;16(5):368-76. doi: 10.3109/13550284.2010.513029. PMID: 20839921Free PMC Article
Harris VK, Sadiq SA
Mol Diagn Ther 2009;13(4):225-44. doi: 10.1007/BF03256329. PMID: 19712003

Clinical prediction guides

Kirov II, Tal A, Babb JS, Herbert J, Gonen O
Neurology 2013 Jan 1;80(1):39-46. Epub 2012 Nov 21 doi: 10.1212/WNL.0b013e31827b1a8c. PMID: 23175732Free PMC Article
Tortorella C, Ruggieri M, Di Monte E, Ceci E, Iaffaldano P, Direnzo V, Mastrapasqua M, Frigeri A, Amato MP, Hakiki B, Ghezzi A, Lugaresi A, De Luca G, Patti F, D'Amico E, Sola P, Simone AM, Svelto M, Livrea P, Trojano M
J Neurol Neurosurg Psychiatry 2011 Dec;82(12):1355-9. Epub 2011 May 27 doi: 10.1136/jnnp.2011.241836. PMID: 21622936
Harris VK, Sadiq SA
Mol Diagn Ther 2009;13(4):225-44. doi: 10.1007/BF03256329. PMID: 19712003
Huang W, Alexander GE, Chang L, Shetty HU, Krasuski JS, Rapoport SI, Schapiro MB
Neurology 2001 Aug 28;57(4):626-32. doi: 10.1212/wnl.57.4.626. PMID: 11524470
Chang L, Ernst T, Strickland T, Mehringer CM
Am J Psychiatry 1999 May;156(5):716-22. doi: 10.1176/ajp.156.5.716. PMID: 10327904

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