U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Increased CSF homovanillic acid concentration

MedGen UID:
1814354
Concept ID:
C5676789
Finding
HPO: HP:0034201

Definition

Elevated concentration of homovanillic acid (HVA) in the cerebrospinal fluid. HVA is a metabolite of dopamine. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVIncreased CSF homovanillic acid concentration

Conditions with this feature

Classic dopamine transporter deficiency syndrome
MedGen UID:
1814585
Concept ID:
C5700336
Disease or Syndrome
SLC6A3-related dopamine transporter deficiency syndrome (DTDS) is a complex movement disorder with a continuum that ranges from classic early-onset DTDS (in the first 6 months) to atypical later-onset DTDS (in childhood, adolescence, or adulthood). Classic DTDS. Infants typically manifest nonspecific findings (irritability, feeding difficulties, axial hypotonia, and/or delayed motor development) followed by a hyperkinetic movement disorder (with features of chorea, dystonia, ballismus, orolingual dyskinesia). Over time, affected individuals develop parkinsonism-dystonia characterized by bradykinesia (progressing to akinesia), dystonic posturing, distal tremor, rigidity, and reduced facial expression. Limitation of voluntary movements leads to severe motor delay. Episodic status dystonicus, exacerbations of dystonia, and secondary orthopedic, gastrointestinal, and respiratory complications are common. Many affected individuals appear to show relative preservation of intellect with good cognitive development. Atypical DTDS. Normal psychomotor development in infancy and early childhood is followed by later-onset manifestations of parkinsonism-dystonia with tremor, progressive bradykinesia, variable tone, and dystonic posturing. The long-term outcome of this form is currently unknown.

Professional guidelines

PubMed

Mårtensson B, Nyberg S, Toresson G, Brodin E, Bertilsson L
Acta Psychiatr Scand 1989 Jun;79(6):586-96. doi: 10.1111/j.1600-0447.1989.tb10307.x. PMID: 2475012
Belmaker RH, Ebstein RP, Dasberg H, Levy A, Sedvall G, Van Praag HM
Psychopharmacology (Berl) 1979 Jun 21;63(3):293-6. doi: 10.1007/BF00433565. PMID: 113817
Schilkrut R, Rüther E, Ackenheil M, Eben E, Hippius H
Pharmakopsychiatr Neuropsychopharmakol 1976 Jan;9(1):43-7. doi: 10.1055/s-0028-1094477. PMID: 981322

Recent clinical studies

Etiology

Stefani A, Pierantozzi M, Olivola E, Galati S, Cerroni R, D'Angelo V, Hainsworth AH, Saviozzi V, Fedele E, Liguori C
Neurochem Int 2017 May;105:58-63. Epub 2017 Jan 18 doi: 10.1016/j.neuint.2017.01.007. PMID: 28108196
LeWitt P
Parkinsonism Relat Disord 2012 Jan;18 Suppl 1:S49-51. doi: 10.1016/S1353-8020(11)70017-7. PMID: 22166453
LeWitt P, Schultz L, Auinger P, Lu M; Parkinson Study Group DATATOP Investigators
Brain Res 2011 Aug 23;1408:88-97. Epub 2011 Jul 1 doi: 10.1016/j.brainres.2011.06.057. PMID: 21784416Free PMC Article
Asberg M
Ann N Y Acad Sci 1997 Dec 29;836:158-81. doi: 10.1111/j.1749-6632.1997.tb52359.x. PMID: 9616798
Pezzoli G, Panerai AE, Di Giulio A, Longo A, Passerini D, Carenzi A
Neurology 1984 Apr;34(4):516-9. doi: 10.1212/wnl.34.4.516. PMID: 6199690

Diagnosis

Kurihara M, Komatsu H, Sengoku R, Shibukawa M, Morimoto S, Matsubara T, Arakawa A, Orita M, Ishibashi K, Mitsutake A, Shibata S, Ishiura H, Adachi K, Ohse K, Hatano K, Ihara R, Higashihara M, Nishina Y, Tokumaru AM, Ishii K, Saito Y, Murayama S, Kanemaru K, Iwata A
Neurology 2023 Mar 7;100(10):e1009-e1019. Epub 2022 Dec 14 doi: 10.1212/WNL.0000000000201647. PMID: 36517236Free PMC Article
Stefani A, Pierantozzi M, Olivola E, Galati S, Cerroni R, D'Angelo V, Hainsworth AH, Saviozzi V, Fedele E, Liguori C
Neurochem Int 2017 May;105:58-63. Epub 2017 Jan 18 doi: 10.1016/j.neuint.2017.01.007. PMID: 28108196
LeWitt P
Parkinsonism Relat Disord 2012 Jan;18 Suppl 1:S49-51. doi: 10.1016/S1353-8020(11)70017-7. PMID: 22166453
Virkkunen M, Rawlings R, Tokola R, Poland RE, Guidotti A, Nemeroff C, Bissette G, Kalogeras K, Karonen SL, Linnoila M
Arch Gen Psychiatry 1994 Jan;51(1):20-7. doi: 10.1001/archpsyc.1994.03950010020003. PMID: 7506515
Asberg M, Bertilsson L, Mårtensson B, Scalia-Tomba GP, Thorén P, Träskman-Bendz L
Acta Psychiatr Scand 1984 Mar;69(3):201-19. doi: 10.1111/j.1600-0447.1984.tb02488.x. PMID: 6201041

Therapy

Stefani A, Pierantozzi M, Olivola E, Galati S, Cerroni R, D'Angelo V, Hainsworth AH, Saviozzi V, Fedele E, Liguori C
Neurochem Int 2017 May;105:58-63. Epub 2017 Jan 18 doi: 10.1016/j.neuint.2017.01.007. PMID: 28108196
LeWitt P, Schultz L, Auinger P, Lu M; Parkinson Study Group DATATOP Investigators
Brain Res 2011 Aug 23;1408:88-97. Epub 2011 Jul 1 doi: 10.1016/j.brainres.2011.06.057. PMID: 21784416Free PMC Article
Ben-Menachem E, Persson LI, Hedner T
Epilepsy Res 1992 Mar;11(1):45-9. doi: 10.1016/0920-1211(92)90020-t. PMID: 1373372
Oppel F, Schulze G
Pharmakopsychiatr Neuropsychopharmakol 1978 Mar;11(2):76-80. doi: 10.1055/s-0028-1094565. PMID: 347467
Davidson DL, Yates CM, Mawdsley C, Pullar IA, Wilson H
J Neurol Neurosurg Psychiatry 1977 Dec;40(12):1136-41. doi: 10.1136/jnnp.40.12.1136. PMID: 591981Free PMC Article

Prognosis

Luykx JJ, Bakker SC, Lentjes E, Boks MP, van Geloven N, Eijkemans MJ, Janson E, Strengman E, de Lepper AM, Westenberg H, Klopper KE, Hoorn HJ, Gelissen HP, Jordan J, Tolenaar NM, van Dongen EP, Michel B, Abramovic L, Horvath S, Kappen T, Bruins P, Keijzers P, Borgdorff P, Ophoff RA, Kahn RS
PLoS One 2012;7(2):e30497. Epub 2012 Feb 1 doi: 10.1371/journal.pone.0030497. PMID: 22312427Free PMC Article
van der Cammen TJ, Tiemeier H, Engelhart MJ, Fekkes D
Int J Geriatr Psychiatry 2006 Sep;21(9):838-43. doi: 10.1002/gps.1569. PMID: 16955437
Assmann B, Köhler M, Hoffmann GF, Heales S, Surtees R
Pediatr Res 2002 Jul;52(1):91-4. doi: 10.1203/00006450-200207000-00017. PMID: 12084853
Tullberg M, Månsson JE, Fredman P, Lekman A, Blennow K, Ekman R, Rosengren LE, Tisell M, Wikkelsø C
J Neurol Neurosurg Psychiatry 2000 Jul;69(1):74-81. doi: 10.1136/jnnp.69.1.74. PMID: 10864607Free PMC Article
Hibbeln JR, Linnoila M, Umhau JC, Rawlings R, George DT, Salem N Jr
Biol Psychiatry 1998 Aug 15;44(4):235-42. doi: 10.1016/s0006-3223(98)00141-3. PMID: 9715354

Clinical prediction guides

Kurihara M, Komatsu H, Sengoku R, Shibukawa M, Morimoto S, Matsubara T, Arakawa A, Orita M, Ishibashi K, Mitsutake A, Shibata S, Ishiura H, Adachi K, Ohse K, Hatano K, Ihara R, Higashihara M, Nishina Y, Tokumaru AM, Ishii K, Saito Y, Murayama S, Kanemaru K, Iwata A
Neurology 2023 Mar 7;100(10):e1009-e1019. Epub 2022 Dec 14 doi: 10.1212/WNL.0000000000201647. PMID: 36517236Free PMC Article
Stefani A, Pierantozzi M, Olivola E, Galati S, Cerroni R, D'Angelo V, Hainsworth AH, Saviozzi V, Fedele E, Liguori C
Neurochem Int 2017 May;105:58-63. Epub 2017 Jan 18 doi: 10.1016/j.neuint.2017.01.007. PMID: 28108196
LeWitt P, Schultz L, Auinger P, Lu M; Parkinson Study Group DATATOP Investigators
Brain Res 2011 Aug 23;1408:88-97. Epub 2011 Jul 1 doi: 10.1016/j.brainres.2011.06.057. PMID: 21784416Free PMC Article
Narayan M, Srinath S, Anderson GM, Meundi DB
Biol Psychiatry 1993 Apr 15-May 1;33(8-9):630-5. doi: 10.1016/0006-3223(93)90102-j. PMID: 7687150
Pezzoli G, Panerai AE, Di Giulio A, Longo A, Passerini D, Carenzi A
Neurology 1984 Apr;34(4):516-9. doi: 10.1212/wnl.34.4.516. PMID: 6199690

Recent systematic reviews

Mousten IV, Sørensen NV, Christensen RHB, Benros ME
JAMA Psychiatry 2022 Jun 1;79(6):571-581. doi: 10.1001/jamapsychiatry.2022.0645. PMID: 35442429Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...