Dopamine transporter deficiency syndrome: Phenotypic spectrum from infancy to adulthood

Brain

Volumn 137, Issue 4, 2014, Pages 1107-1119

  Ng, Joanne ^a,b   Zhen, Juan ^c   Meyer, Esther ^a   Erreger, Kevin ^d   Li, Yan ^c   Kakar, Naseebullah ^e,f   Ahmad, Jamil ^f   Thiele, Holger ^g   Kubisch, Christian ^e   Rider, Nicholas L ^h,i   Holmes Morton, D ^i,j   Strauss, Kevin A ^i,j,k   Puffenberger, Erik G ^i,j   D'Agnano, Daniela ^l   Anikster, Yair ^m   Carducci, Claudia ^l   Hyland, Keith ⁿ   Rotstein, Michael ^o   Leuzzi, Vincenzo ^l   Borck, Guntram ^e   Reith, Maarten E A ^c   Kurian, Manju A ^a,b   more..

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^c NEW YORK UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d VANDERBILT UNIVERSITY SCHOOL OF MEDICINE   (United States)

^e UNIVERSITY OF ULM   (Germany)

^f BALOCHISTAN UNIVERSITY OF INFORMATION TECHNOLOGY   (Pakistan)

^g UNIVERSITY OF COLOGNE   (Germany)

^h Medical Arts Allergy   (United States)

ⁱ CLINIC FOR SPECIAL CHILDREN   (United States)

^j FRANKLIN AND MARSHALL COLLEGE   (United States)

^k LANCASTER GENERAL HOSPITAL   (United States)

^l SAPIENZA UNIVERSITY OF ROME   (Italy)

^m Edmond and Lily Safra Children's Hospital   (Israel)

ⁿ Medical Neurogenetics LLC   (United States)

^o TEL AVIV SOURASKY MEDICAL CENTER   (Israel)

more..

Author keywords

dopamine; dopamine transporter (DAT); dystonia; juvenile; parkinsonism; SLC6A3

Indexed keywords

4 AMINOBUTYRIC ACID; AMPHETAMINE; CHOLINERGIC RECEPTOR BLOCKING AGENT; DOPAMINE RECEPTOR STIMULATING AGENT; DOPAMINE TRANSPORTER; LEVODOPA; NEUROTRANSMITTER; SELEGILINE; SLC6A3 PROTEIN, HUMAN;

ADOLESCENT; ADULT; ADULT DISEASE; ADULTHOOD; AMPEROMETRY; ARTICLE; BINDING AFFINITY; BRADYKINESIA; CASE STUDY; CELL SURFACE; CELL TRANSPORT; CEREBRAL PALSY; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; COHORT ANALYSIS; CONTROLLED STUDY; DIFFERENTIAL DIAGNOSIS; DISEASE COURSE; DOPAMINE TRANSPORTER DEFICIENCY SYNDROME; DOPAMINE UPTAKE; DYSTONIA; EFFUSION; EXOME; EXON; FEMALE; HETEROLOGOUS EXPRESSION; HUMAN; HUMAN CELL; IMMUNOBLOTTING; IN VITRO STUDY; INFANCY; INFANT DISEASE; MALE; MISSENSE MUTATION; MOTOR DYSFUNCTION; MUTATIONAL ANALYSIS; PARKINSONISM; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN GLYCOSYLATION; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; YOUNG ADULT; COMPLICATION; DEFICIENCY; GENETIC ASSOCIATION; GENETICS; INFANT; NUCLEOTIDE SEQUENCE; ONSET AGE; PEDIGREE; POLYMERASE CHAIN REACTION;

ADOLESCENT; ADULT; AGE OF ONSET; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; DOPAMINE PLASMA MEMBRANE TRANSPORT PROTEINS; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; IMMUNOBLOTTING; INFANT; MALE; MOVEMENT DISORDERS; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; YOUNG ADULT;

EID: 84897882229     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awu022     Document Type: Article

References (37)

1. Adinoff B. Neurobiologic processes in drug reward and addiction. Harv Rev Psychiatry 2004; 12: 305-20.
2. Assmann BE, Robinson RO, Surtees RA, Bräutigam C, Heales SJ, Wevers RA, et al. Infantile Parkinsonism-dystonia and elevated dopa-mine metabolites in CSF. Neurology 2004; 62: 1872-4.
3. Basel-Vanagaite L, Dallapiccola B, Ramirez-Solis R, Segref A, Thiele H, Edwards A, et al. Deficiency for the ubiquitin ligase UBE3B in a ble-pharophimosis-ptosis-intellectual-disability syndrome. Am J Hum Genet 2012; 91: 998-1010.
4. Beuming T, Shi L, Javitch JA, Weinstein H. A comprehensive structure-based alignment of prokaryotic and eukaryotic neurotransmitter/Na + symporters (NSS) aids in the use of the LeuT structure to probe NSS structure and function. Mol Pharmacol 2006; 70: 1630-42.
5. Blackstone C. Infantile parkinsonism-dystonia due to dopamine transporter gene mutations: another genetic twist. Lancet Neurol 2011; 10: 24-5.
6. Bowton E, Saunders C, Erreger K, Sakrikar D, Matthies HJ, Sen N, et al. Dysregulation of dopamine transporters via dopamine D2 autoreceptors triggers anomalous dopamine efflux associated with attention-deficit hyperactivity disorder. J Neurosci 2010; 30: 6048-57.
7. Chen N, Zhen J, Reith ME. Mutation of Trp84 and Asp313 of the dopa-mine transported reveals similar mode of binding interaction for GBR 12909 and benztropine as opposed to cocaine. J Neurochem 2004; 89: 853-64.
8. Carlsson A. Perspectives on the discovery of central monoaminergic neurotransmission. Annu Rev Neurosci 1987; 10: 19-40.
9. Clark D, Eggenberger E. Neuro-ophthalmology of movement disorders. Curr Opin Ophthalm 2012; 23: 491-6.
10. Darling A, Poo P, Perez-Duenas B, Campistol J. Medication-related ocu-logyric crises: a description of four cases and a review of the literature. Rev Neurol 2013; 56: 152-6.
11. Gainetdinov RR, Caron MG. Monoamine transporters: from genes to behaviour. Annu Rev Pharmacol Toxicol 2003; 43: 261-84.
12. García-Cazorla A, Ortez C, Pérez-Dueñas B, Serrano M, Pineda M, Campistol J, et al. Hypokinetic-rigid syndrome in children and inborn errors of metabolism. Eur J Paediatr Neurol 2011; 15: 295-302.
13. Greengard P. The neurobiology of slow synaptic transmission. Science 2001; 294: 1024-30.
14. Haack TB, Hogarth P, Kruer MC, Gregory A, Wieland T, Schwarzmayr T, et al. Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA. Am J Hum Genet 2012; 91: 1144-9.
15. Henriksen FH, Yasmeen S, Skjørringe T, Arends NV, Karlsborg M, Hjermind LE, et al. Atypical dopamine transporter deficiency syndrome in two adult males with molecular characterisation of new transporter variants. Soc Neurosci Meet Plann 2012, Poster 042.
16. Kniazeff J, Shi L, Loland CJ, Javitch JA, Weinstein H, Gether U. An intracellular interaction network regulates conformational transitions in the dopamine transporter. J BiolChem 2008; 283: 17691-701.
17. Kurian MA, Zhen J, Cheng SY, Li Y, Mordekar SR, Jardine P, et al. Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism dys-tonia. J Clin Invest 2009; 119: 1595-603.
18. Kurian MA, Li Y, Zhen J, Meyer E, Hai N, Christen HJ, et al. Clinical and molecular characterisation of hereditary Dopamine Transporter deficiency syndrome: an observational cohort and experimental study. Lancet Neurol 2011a; 10: 54-62.
19. Kurian MA, Gissen P, Smith M, Heales SJR, Clayton PT. The monoamine neurotransmitter disorders: an expanding range of neurological syndromes. Lancet Neurol 2011b; 10: 721-33.
20. Li LB, Chen N, Ramamoorthy S, Chi L, Cui XN, Wang LC, et al. The role of N-glycosylation in function and surface trafficking of the human dopamine transporter. J BiolChem 2004; 297: 21012-20.
21. Mazei-Robison MS, Bowton E, Holy M, Schmudermaier M, Freissmuth M, Sitte HH, et al. Anomalous dopamine release associated with a human dopamine transporter coding variant. J Neurosci 2008; 28: 7040-6.
22. Mehler-Wex C, Riederer P, Gerlach M. Dopaminergic dysbalance in distinct basal ganglia neurocircuits: implications for the pathophysiology of Parkinson's disease, schizophrenia and attention deficit hyperactivity disorder. Neurotox Res 2006; 10: 167-79.
23. Pons R, Syrengelas D, Syrengelas A, Gika A, Dinopuolos A, Orfanou I, et al. Tyrosine hydroxylase: the Greek experience. Eur J Paediatr Neurol 2013; 15 (Suppl 1): S19-20.
24. Puffenberger EG, Jinks RN, Sougnez C, Cibulskis K, Willert RA, Achilly NP, et al. Genetic mapping and exome sequencing identify variants associated with five novel diseases. PLoS One 2012; 7: e28936.
25. Schneider SA, Bhatia KP. Rare causes of dystonia parkinsonism. Curr Neurol Neurosci Rep 2010; 10: 431-9.
26. Shan J, Javitch JA, Shi L, Weinstein H. The substrate-driven transition to an inward-facing conformation in the functional mechanism of the dopamine transporter. PLoS One 2011; 6: e16350.
27. Shi L, Quick M, Zhao Y, Weinstein H, Javitch JA. The mechanism of a neurotransmitter: sodium symporter-inward release of Na+ and substrate is triggered by substrate in a second binding site. Mol Cell 2008; 30: 667-77.
28. Singh SK, Yamashita A, Gouaux E. Antidepressant binding site in a bacterial homologue of neurotransmitter transporters. Nature 2007; 448: 952-6.
29. Stopper H, Schupp N, Fazeli G, Dietel B, Queisser N, Walitza S, et al. Genotoxicity of the neurotransmitter dopamine in vitro. Toxicol In Vitro 2009; 23: 640-6.
30. Stouffer MA, Ali S, Reith ME, Patel JC, Sarti F, Carr KD, et al. SKF-83566, a D1-dopamine receptor antagonist, inhibits the dopamine transporter. J Neurochem 2011; 118: 714-20.
31. Sulzer D, Sonder MS, Poulsen NW, Galli A. Mechanisms of neurotrans-mitter release by amphetamines: a review. Prog Neurobiol 2005; 75: 406-33.
32. Torres GE. The dopamine transporter proteome. J Neurochem 2006; 97 (Suppl 1): 3-10.
33. Torres GE, Gainetdinov RR, Caron MG. Plasma membrane monoamine transporters: structure, regulation and function. Nat Rev Neurosci 2003a; 4: 13-25.
34. Torres GE, Carneiro A, Seamans K, Fiorentini C, Sweeney A, Yao WD, et al. Oligomerization and trafficking of the human dopamine transporter. Mutational analysis identifies critical domains important for the functional expression of the transporter. J Biol Chem 2003b; 278: 2731-9.
35. Willemsen MA, Verbeek MM, Kamsteeg EJ, de Rijk-van Andel JF, Aeby A, Blau N, et al. Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis. Brain 2010; 133: 1810-22.
36. Yamashita A, Singh SK, Kawate T, Jin Y, Gouaux E. Crystal structure of a bacterial homologue of Na +/Cl-dependent neurotransmitter transporters. Nature 2005; 473: 215-23.
37. Zhou Z, Zhen J, Karpowich NK, Goetz RM, Law CJ, Reith ME, et al. LeuT-desipramine structure reveals how antidepressants block neuro-transmitter reuptake. Science 2007; 317: 1390-3.