Human genetics of plasma dopamine β-hydroxylase activity: applications to research in psychiatry and neurology

Amaral DG, Sinnamon HM (1977) The locus coeruleus: neurobiology of a central noradrenergic nucleus. Prog Neurobiol 9:147–196 Anand A, Charney DS (2000) Norepinephrine dysfunction in depression. J Clin Psychiatry 61:16–24 Arango V, Underwood MD, Mann JJ (1994) Fewer pigmented neurons in the locus coeruleus of uncomplicated alcoholics. Brain Res 650:1–8 Arnsten AF (2000a) Genetics of childhood disorders: XVIII. ADHD. Part 2. Norepinephrine has a critical modulatory influence on prefrontal cortical function. J Am Acad Child Adolesc Psychiatry 39:1201–1203 Arnsten AF (2000b) Stress impairs prefrontal cortical function in rats and monkeys: role of dopamine D1 and norepinephrine alpha-1 receptor mechanisms. Prog Brain Res 126:183–192 Arrufat FJ, Diaz R, Queralt R, Navarro V, Marcos T, Massana G, Massana J, Ballesta F, Oliva R (2000) Analysis of the polymorphic (GT)(n) repeat at the dopamine beta-hydroxylase gene in Spanish patients affected by schizophrenia. Am J Med Genet 96:88–92 Asamoah A, Wilson AF, Elston RC, Dalferes E Jr, Bereson GS (1987) Segregation and linkage analyses of dopamine β-hydroxylase activity in a large six-generation pedigree. Am J Med Genet 27:613–621 Bezard E, Jaber M, Gonon F, Boireau A, Bloch B, Gross CE (2000) Adaptive changes in the nigrostriatal pathway in response to increased 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine-induced neurodegeneration in the mouse. Eur J Neurosci 12:2892–2900 Biagionni I, Robertson D (1987) Endogenous restoration of noradrenaline by precursor therapy in dopamine-beta-hydroxylase deficiency. Lancet 2:1170–1172 Bowden CL, Deutsch CK, Swanson JM (1988) Plasma dopamine-beta-hydroxylase and platelet monoamine oxidase in attention deficit disorder and conduct disorder. J Am Acad Child Adolesc Psychiatry 27:171–174 Braune S, Reinhardt M, Schnitzer R, Riedel A, Lucking CH (1999) Cardiac uptake of [123I]MIBG separates Parkinson’s disease from multiple system atrophy. Neurology 53:1020–1025 Burke WJ, Li SW, Schmitt CA, Xia P, Chung HD, Gillespie KN (1999) Accumulation of 3,4-dihydroxyphenylglycolaldehyde, the neurotoxic monoamine oxidase A metabolite of norepinephrine, in locus ceruleus cell bodies in Alzheimer’s disease: mechanism of neuron death. Brain Res 816:633–637 Cash R, Dennis T, L’Heureux R, Raisman R, Javoy-Agid F, Scatton B (1987) Parkinson’s disease and dementia: norepinephrine and dopamine in locus ceruleus. Neurology 37:42–46 Chambers KJ, Tonkin LA, Chang E, Shelton DN, Linskens MH, Funk WD (1998) Identification and cloning of a sequence homologue of dopamine beta-hydroxylase. Gene 218:111–120 Coyle JT, Wooten GF, Axelrod J (1974) Evidence for extranoradrenergic dopamine-beta-hydroxylase activity in rat salivary gland. J Neurochem 22:923–929 Craig SP, Buckle VJ, Lamouroux A, Mallet J, Craig IW (1988) Localization of dopamine beta hydroxylase (DBH) gene to chromosome 9q34. Cytogenet Cell Genet 48:48–50 Crow TJ (1985) The two-syndrome concept: origins and current status. Schizophr Bull 11:471–486 Cubells JF, Kobayashi K, Nagatsu T, Kidd KK, Kidd JR, Calafell F, Kranzler HR, Ichinose H, Gelernter J (1997) Population genetics of a functional variant of the dopamine beta-hydroxylase gene (DBH). Am J Med Genet 74:374–379 Cubells JF, van Kammen DP, Kelley ME, Anderson GM, O’Connor DT, Price LH, Malison R, Rao PA, Kobayashi K, Nagatsu T, Gelernter J (1998) Dopamine beta-hydroxylase: two polymorphisms in linkage disequilibrium at the structural gene DBH associate with biochemical phenotypic variation. Hum Genet 102:533–540 Cubells JF, Kranzler HR, McCance-Katz E, Anderson GM, Malison RT, Price LH, Gelernter J (2000) A haplotype at the DBH locus, associated with low plasma dopamine β-hydroxylase activity, also associates with cocaine-induced paranoia. Mol Psychiatry 5:56–63 Cubells JF, Price LH, Meyers BS, Anderson GM, Zabetian CP, Alexopoulos, Nelson JC, Sanacora G, Kirwin P, Carpenter L, Malison RT, Gelernter J (2002) Genotype-controlled analysis of plasma dopamine β-hydroxylase activity in psychotic unipolar major depression. Biol Psychiatry 51:358–364 Daly G, Hawi Z, Fitzgerald M, Gill M (1999) Mapping susceptibility loci in attention deficit hyperactivity disorder: preferential transmission of parental alleles at DAT1, DBH and DRD5 to affected children. Mol Psychiatry 4:192–196 DeVoto P, Flore G, Pani L, Gessa GL (2001) Evidence for co-release of noradrenaline and dopamine from noradrenergic neurons in the cerebral cortex. Mol Psychiatry 6:657–664 Druschky A, Hilz MJ, Platsch G, Radespiel-Troger M, Druschky K, Kuwert T, Neundorfer B (2000) Differentiation of Parkinson’s disease and multiple system atrophy in early disease stages by means of I-123-MIBG-SPECT. J Neurol Sci 175:3–12 Dunnette J, Weinshilboum RM (1976) Human serum dopamine-β-hydroxylase: correlation of enzyme activity with immunoreactive protein in genetically defined samples. Am J Hum Genet 28:155–166 Ebstein RP, Park DH, Freedman LS, Levitz SM, Ouchi T, Goldstein M (1973) A radioimmunoassay of human circulatory dopamine-beta-hydroxylase. Life Sci 13:769–784 Elston RC, Namboodiri KK, Hames CG (1979) Segregation and linkage analyses of dopamine β-hydroxylase activity. Hum Hered 29:284–292 Esler M, Rumantir M, Kaye D, Jennings G, Hastings J, Socratous F, Lambert G (2001) Sympathetic nerve biology in essential hypertension. Clin Exp Pharmacol Physiol 28:986–989 Fischer HD, Rudolph E, Schmidt J, Hilse H, Oehme P, Piesche L (1980) Interaction at the synaptic level of fusaric acid with neurotransmitters. Acta Biol Med Germ 39:935–940 Foote SL, Bloom FE, Aston-Jones G (1983) Nucleus locus ceruleus: new evidence of anatomical and physiological specificity. Physiol Rev 63:844–914 Forstl H, Levy R, Burns A, Luthert P, Cairns N (1994) Disproportionate loss of noradrenergic and cholinergic neurons as cause of depression in Alzheimer’s disease—a hypothesis. Pharmacopsychiatry 27:11–15 Frecska BG, Horváth S, Zádor G, Arató M (1990) Predicting neuroleptic response from a combination of multilevel variables in acute schizophrenic patients. Acta Psychiatr Scand 82:408–412 Freeman R, Landsberg L, Young J (1999) The treatment of neurogenic orthostatic hypotension with 3,4-dl-threo-dihydroxyphenylserine: a randomized, placebo-controlled, crossover trial. Neurology 53:2151–2157 Fujita K, Ito T, Maruta K, Teradaira R, Beppu H, Nakagami Y, Kato Y, Nagatsu T, Kato T (1978) Serum dopamine-β-hydroxylase in schizophrenic patients. J Neurochem 30:1569–1572 Gaspar P, Gray F (1984) Dementia in idiopathic Parkinson’s disease, a neuropathological study of 32 cases. Acta Neuropathol 64:43–52 Gelernter J, Gejman PV, Bisghini S, Kidd KK (1991) Sequence tagged site (STS) Taq1 RFLP at dopamine β-hydroxylase (DBH). Nucl Acids Res 19:1957 Goldin LR, Gershon ES, Lake CR, Murphy DL, McGinniss M, Sparkes RS (1982) Segregation and linkage studies of plasma dopamine-beta-hydroxylase (DBH), erythrocyte catechol-O-methyl transferase (COMT) and platelet monoamine oxidase (MAO): possible linkage between the ABO locus and a gene controlling DBH activity. Am J Hum Genet 34:250–262 Grace AA, Gerfen CR, Aston-Jones G (1998) Catecholamines in the central nervous system. Overview Adv Pharmacol 42:655–670 Grobecker H, Roizen MF, Jacobowitz DM, Kopin IJ (1977) Effect of prolonged treatment with adrenergic neuron blocking drugs on sympathoadrenal reactivity in rats. Eur J Pharmacol 46:125–133 Grzanna R, Coyle JT (1978) Absence of a relationship between sympathetic neuronal activity and tulnover of serum dopamine-β-hydroxylase. Naunyn-Schmiedeberg’s Arch Pharmakol Exp Pathol 304:231–236 Hartmann E, Keller-Teschke M (1979) The psychological effects of dopamine-β-hydroxylase inhibition in normal subjects. Biol Psychiatry 14:455–462 Heiss G, Tyroler HA, Gunnells JC, McGuffin WL, Hames CG (1980) Dopamine-β-hydroxylase in a bi-racial community: demographic, cardiovascular and familial factors. J Chron Dis 33:301–310 Holroyd KA, Penzien DB, Cordingley GE (1991) Propranolol in the management of recurrent migraine: a meta-analytic review. Headache 31:333–340 Hoogendijk WJ, Feenstra MG, Botterblom MH, Gilhuis J, Sommer IE, Kamphorst W, Eikelenboom P, Swaab DF (1999) Increased activity of surviving locus ceruleus neurons in Alzheimer’s disease. Ann Neurol 45:82–91 Hoyle GW, Mercer EH, Palmiter RD, Brinster RL (1994) Cell-specific expression from the human dopamine beta-hydroxylase promoter in transgenic mice is controlled via a combination of positive and negative regulatory elements. J Neurosci 14:2455–2463 Hurst JH, LeWitt PA, Burns RS, Foster NL, Lovenberg W (1985) CSF dopamine-beta-hydroxylase activity in Parkinson’s disease. Neurology 35:565–568 Ishiguro H, Kim KT, Joh TH, Kim KS (1993) Neuron-specific expression of the human dopamine beta-hydroxylase gene requires both the cAMP-response element and a silencer region. J Biol Chem 268:17987–17994 Ishii A, Kobayashi K, Kiuchi K, Nagatsu T (1991) Expression of two forms of human dopamine-beta-hydroxylase in COS cells. Neurosci Lett 125:25–28 Jansen M, Boomsma F, van den Heuvel B, Deinum J, Steenbergen-Spanjers G, Wevers R (2001) Mutation analysis in two patients with congenital dopamine beta-hydroxylase deficiency, abstract III-ICS-10. Presented at the Ninth International Catecholamine Symposium, Kyoto, Japan Joyce JN, Smutzer G, Whitty CJ, Myers A, Bannon MJ (1997) Differential modification of dopamine transporter and tyrosine hydroxylase mRNAs in midbrain of subjects with Parkinson’s, Alzheimer’s with parkinsonism, and Alzheimer’s disease. Mov Disord 12:885–897 Kaufman S, Friedman S (1965) Dopamine-beta-hydroxylase. Pharmacol Rev 17:71–100 Kent JM, Mathew SJ, Gorman JM (2002) Molecular targets in the treatment of anxiety. Biol Psychiatry 52:1008–1030 Kim C-Y, Zabetian CP, Cubells JF, Cho S, Biaggioni I, Cohen BM, Robertson D, Kim K-S (2002) Mutations in the dopamine β-hydroxylase gene are associated with human dopamine β-hydroxylase deficiency. Am J Med Genet 108:140–147 Kobayashi K, Kiuchi K, Ishii A, Kaneda N, Kurosawa Y, Fujita K, Nagatsu T (1989) Human dopamine β-hydoxylase gene: two mRNA types having different 3-terminal regions are produced through alternative polyadenylation. Nucl Acids Res 17:1089–1102 Köhnke M, Zabetian CP, Anderson GM, Kolb W, Gaertner I, Buchkremer G, Vonthein R, Schick S, Lutz U, Köhnke AM, Cubells JF (2002) A genotype-controlled analysis of plasma dopamine β-hydroxylase in healthy subjects and alcoholics: evidence for alcohol-related differences in noradrenergic function. Biol Psychiatry 52:1151–1158 Lamouroux A, Vigny A, Faucon Biguet N, Darmon MC, Franck R, Henry JP, Mallet J (1987) The primary structure of human dopamine-beta-hydroxylase: insights into the relationship between the soluble and the membrane-bound forms of the enzyme. EMBO J 6:3931–3937 Li B, Tsing S, Kosaka AH, Nguyen B, Osen EG, Bach C, Chan H, Barnett J (1996) Expression of human dopamine beta-hydroxylase in Drosophila Schneider 2 cells. Biochem J 313:57–64 Lieberman AN, Freedman LS, Goldstein M (1972) Serum dopamine-beta-hydroxylase activity in patients with Huntington’s chorea and Parkinson’s disease. Lancet 1:153–154 Long JC, Williams RC, Urbanek M (1995) An E–M algorithm and testing strategy for multiple-locus haplotypes. Am J Hum Genet 56:799–180 Lykouras E, Markianos M, Malliaras D, Stefanis C (1988) Neurochemical variables in delusional depression. Am J Psychiatry 145:214–217 Magalhaes M, Wenning GK, Daniel SE, Quinn NP (1995) Autonomic dysfunction in pathologically confirmed multiple system atrophy and idiopathic Parkinson’s disease—a retrospective comparison. Acta Neurol Scand 91:98–102 Major LF, Lerner P, Ballenger JC, Brown GL, Goodwin FK, Lovenberg W (1979) Dopamine-beta-hydroxylase in the cerebrospinal fluid: relationship to disulfiram-induced psychosis. Biol Psychiatry 14:337–44 Mann DM, Yates PO (1983) Pathological basis for neurotransmitter changes in Parkinson’s disease. Neuropathol Appl Neurobiol 9:3–19 Man in’t Veld AJ, Boomsma F, Moleman P, Schalekamp MADH (1987) Congenital dopamine-β-hydroxylase deficiency. A novel orthostatic syndrome. Lancet 1:183–188 Markianos M, Hadjikonstantinou M, Sfagos C (1981) Normal plasma dopamine-beta-hydroxylase in non-treated and treated Parkinson patients. Acta Neurol Scand 63:267–272 Mathias CJ, Bannister RB, Cortelli P, Heslop K, Polak JM, Raimbach S, Springall DR, Watson L (1990) Clinical, autonomic and therapeutic observations in two siblings with postural hypotension and sympathetic failure due to an inability to synthesize noradrenaline from dopamine because of a deficiency of dopamine beta hydroxylase. Q J Med 75:617–633 McMahon A, Sabban EL (1992) Regulation of expression of dopamine beta-hydroxylase in PC12 cells by glucocorticoids and cyclic AMP analogues. J Neurochem 59:2040–2047 Meltzer HY, Hyong HW, Carroll BJ, Russo P (1976) Serum dopamine-β-hydroxylase in the affective psychoses and schizophrenia: Decreased activity in unipolar psychotically depressed patients. Arch Gen Psychiatry 33:585–591 Meltzer HY, Nasr SJ, Tong C (1980) Serum dopamine-β-hydroxylase in schizophrenia. Biol Psychiatry 15:781–788 Meszaros K, Lenzinger E, Fureder T, Hornik K, Willinger U, Stompe T, Heiden AM, Resinger E, Fathi N, Gerhard E, Fuchs K, Miller-Reiter E, Pfersmann V, Sieghart W, Aschauer HN, Kasper S (1996) Schizophrenia and the dopamine-beta-hydroxylase gene: results of a linkage and association study. Psychiatr Genet 6:17–22 Meyers BS, Alexopoulos GS, Kakuma T, Tirumalasetti F, Gabriele M, Alpert S, Bowden C, Meltzer HY (1999) Decreased dopamine beta-hydroxylase activity in unipolar geriatric delusional depression. Biol Psychiatry 45:448–452 Mitler MM, Hajdukovic R, Erman MK (1993) Treatment of narcolepsy with methamphetamine. Sleep 16:306–317 Mogi M, Harada M, Kojima K, Inagaki H, Kondo T, Narabayashi H, Arai T, Teradaira R, Fujita K, Kiuchi K, Nagatsu T (1988) Sandwich enzyme immunoassay of dopamine beta-hydroxylase in cerebrospinal fluid from control and parkinsonian patients. Neurochem Int 12:187–191 Moore RY, Bloom FE (1979) Central catecholamine neuron systems: anatomy and physiology of the norepinephrine and epinephrine systems. Annu Rev Neurosci 2:113–168 Mód L, Rihmer Z, Magyar I, Arató M, Alföldi A, Bagdy G (1986) Serum DBH activity in psychotic vs nonpsychotic unipolar and bipolar depression. Psychiatry Res 19:331–333 Müller Smith K, Daly M, Fischer M, Yiannoutsos CT, Bauer L, Barkley R, Navia BA (2003) Association of the dopamine beta hydroxylase gene with attention deficit hyperactivity disorder: genetic analysis of the Milwaukee longitudinal study. Am J Med Genet Part B (Neuropsychiatr Genet) 119B:77–85 Nagatsu T, Udenfriend S (1972) Photometric assay of dopamine-β-hydroxylase activity in rat serum. Clin Chem 18:980–983 Nagatsu T, Kato T, Nagatsu I, Kondo Y, Inagaki S, Iizuka R, Narabayashi H (1979) Catecholamine-related enzymes in the brain of patients with parkinsonism and Wilson’s disease. Adv Neurol 24:283–292 Nagatsu T, Wakui Y, Kato T, Fujita K, Kondo T, Yokochi F, Narabayashi H (1982) Dopamine-beta-hydroxylase activity in cerebrospinal fluid of Parkinsonian patients. Biomed Res 3:95–98 Nelson JC, Davis JM (1997) DST studies in psychotic depression: a meta-analysis. Am J Psychiatry 154:1497–1503 Ng PC, Henikoff S (2001) Predicting deleterious amino acid substitutions. Genome Res 11:863–874 O’Connor DT, Levine GL, Frigone RP (1983) Homologous radio-immunoassay of human plasma dopamine β-hydroxylase: analysis of homospecific activity, circulating plasma pool and intergroup differences based upon race, blood pressure and cardiac function. J Hypertens 1:227–233 O’Connor DT, Cervenka JH, Stone RA, Levine GL, Parmer RJ, Franco-Bourland RE, Madrazo I, Langlais PJ, Robertson D, Biaggioni I (1994) Dopamine β-hydroxylase immunoreactivity in human cerebrospinal fluid: properties, relationship to central noradrenergic activity and variation in Parkinson’s disease and congenital dopamine β-hydroxylase deficiency. Clin Sci 86:149–158 Ogihara T, Nugent CA, Shen SW, Goldfein S (1975) Serum dopamine β-hydroxylase activity in parents and children. J Lab Clin Med 85:566–570 Oyarce AM, Fleming PJ (1991) Multiple forms of human dopamine β-hydroxylase in SH-SY5Y neuroblastoma cells. Arch Biochem Biophys 290:503–510 Payton A, Holmes J, Barrett JH, Hever T, Fitzpatrick H, Trumper AL, Harrington R, McGuffin P, O’Donovan M, Owen M, Ollier W, Worthington J, Tapar A (2001) Examining for association between candidate gene polymorphisms in the dopamine pathway and attention deficit hyperactivity disorder: a family-based study. Am J Med Genet (Neuropsychiatr Genet) 105:464–470 Peronnet F, Cleroux J, Perrault H, Thibault G, Cousineau D, de Champlain J, Guilland JC, Klepping J (1985) Plasma norepinephrine, epinephrine, and dopamine beta-hydroxylase activity during exercise in man. Med Sci Sports Exerc 17:683–688 Perry SE, Summar L, Phillips JA, Robertson D (1991) Linkage analysis of the human dopamine β-hydroxylase gene. Genomics 10:493–495 Pliszka SR, Rogeness GA, Medrano MA (1988) DBH, MHPG, and MAO in children with depressive, anxiety, and conduct disorders: relationship to diagnosis and symptom ratings. Psychiatry Res 24:35–44 Porter CJ, Nahmias J, Wolfe J, Craig IW (1992) Dinucleotide repeat polymorphism at the human dopamine β-hydroxylase (DBH) locus. Nucleic Acids Res 20:1429 Province MA (2000) A single, sequential, genome-wide test to identify simultaneously all promising areas in a linkage scan. Genet Epidemiol 19:301–322 Robertson D, Goldberg MR, Hollister AS, Onrot J, Wiley R, Thompson JG, Robertson RM (1986) Isolated failure of autonomic noradrenergic neurotransmission: evidence for impaired beta-hydroxylation of dopamine. N Engl J Med 314:1494–1497 Rogeness GA, Hernandez JM, Macedo CA, Mitchell EL (1982) Biochemical differences in children with conduct disorder socialized and undersocialized. Am J Psychiatry 139:307–311 Rogeness GA, Hernandez JM, Macedo CA, Mitchell EL, Amrung SA, Harris WR (1984) Clinical characteristics of emotionally disturbed boys with very low activities of dopamine-beta-hydroxylase. J Am Acad Child Psychiatry 23:203–208 Rogeness GA, Hernandez JM, Macedo CA, Amrung SA, Hoppe SK (1986) Near-zero plasma dopamine-beta-hydroxylase and conduct disorder in emotionally disturbed boys. J Am Acad Child Psychiatry 25:521–527 Rogeness GA, Crawford L, McNamara A (1989) Plasma dopamine-beta-hydroxylase and preschool behavior in children with conduct disorder. Child Psychiatry Hum Dev 20:149–56 Roman T, Schmitz M, Polanczyk GV, Eizirik M, Rohde LA, Hutz MH (2002) Further evidence for the association between attention-deficit/hyperactivity disorder and the dopamine-beta-hydroxylase gene. Am J Med Genet (Neuropsychiatric Genetics) 114:154–158 Ross SB, Wetterberg L, Myrhead M (1973) Genetic control of plasma dopamine-β-hydroxylase. Life Sci 12:529–532 Rothschild AJ, Langlais PJ, Schatzberg AF, Walsh FX, Cole JO, Bird ED (1984) Dexamethasone increases plasma free dopamine in man. J Psychiatr Res 18:217–23 Sack RL, Goodwin FK (1974) Inhibition of dopamine-β-hydroxyalse in manic patients: a clinical trial with fusaric acid. Arch Gen Psychiatry 31:649–654 Sapru MK, Rao BSSR, Channabasavanna SM (1989) Serum dopamine-β-hydroxylase activity in clinical subtypes of depression. Acta Psychiatr Scand 80:474–478 Satoh A, Serita T, Seto M, Tomita I, Satoh H, Iwanaga K, Takashima H, Tsujihata M (1999) Loss of 123I-MIBG uptake by the heart in Parkinson’s disease: assessment of cardiac sympathetic denervation and diagnostic value. J Nucl Med 40:371–375 Schirger A, Sheps SG, Thomas JE, Fealey RD (1981) Midodrine. A new agent in the management of idiopathic orthostatic hypotension and Shy-Drager syndrome. Mayo Clin Proc 56:429–433 Singer C, Weiner WJ, Sanchez-Ramos JR (1992) Autonomic dysfunction in men with Parkinson’s disease. Eur Neurol 32:134–140 Small KM, Wagoner LE, Levin AM, Kardia SLR, Liggett SB (2002) Synergistic polymorphisms of (beta) 1- and (alpha)(2C)-adrenergic receptors and the risk of congestive heart failure. N Engl J Med 347:1135–1142 Smith AD, de Potter WD, Moerman EJ, de Schaepdryver AF (1970) Release of dopamine-β-hydroxylase and chromogranin A upon stimulation of the splenic nerve. Tissue Cell 2:547–568 Spielman RS, McGinnis RE, Ewens WJ (1993) Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM). Am J Hum Genet 52:506–516 Spitzer RL, Endicott J, Robbins E (1975) Research diagnostic criteria. New York State Psychiatric Institute, Biometrics Research, New York Stallings MC, Corley RP, Hewitt JK, Krauter KS, Lessem JM, Mikulich SK, Rhee SH, Smolen A, Young SE, Crowley TJ (2003) A genome-wide search for quantitative trait loci influencing substance dependence vulnerability in adolescence. Drug Alcohol Depend 70:295–307 Stanley WC, Li B, Bonhaus DW, Johnson LG, Lee K, Porter S, Walker K, Martinez G, Eglen RM, Whiting RL, Hegde SS (1997) Catecholamine modulatory effects of nepicastat (RS-25560-197), a novel, potent and selective inhibitor of dopamine β-hydroxylase. Br J Pharmacol 121:1803–1809 Sternberg DE, van Kammen DP, Lerner P, Bunney WE (1982) Schizophrenia: dopamine-β-hydroxylase activity and treatment response. Science 216:1423–1425 Sternberg DE, van Kammen DP, Lerner P, Ballenger JC, Marder SR, Post RM, Bunney WE (1983) CSF dopamine-β-hydroxylase in schizophrenia: low activity associated with good prognosis and good response to neuroleptic treatment. Arch Gen Psychiatry 40:743–747 Stewart LC, Klinman JP (1988) Dopamine beta-hydroxylase of adrenal chromaffin granules: structure and function. Annu Rev Biochem 57:551–592 Suarez GA, Opfer-Gehrking TL, Offord KP, Atkinson EJ, O’Brien PC, Low PA (1999) The Autonomic Symptom Profile: a new instrument to assess autonomic symptoms. Neurology 52:523–528 Terwilliger JD, Ott J (1992) A haplotype-based “haplotype relative risk” approach to detecting allelic associations. Hum Hered 42:337–346 Tomlinson BE, Irving D, Blessed G (1981) Cell loss in the locus coeruleus in senile dementia of Alzheimer type. J Neurol Sci 49:419–428 Tong ZY, Kingsbury AE, Foster OJ (2000) Up-regulation of tyrosine hydroxylase mRNA in a sub-population of A10 dopamine neurons in Parkinson’s disease. Brain Res Mol Brain Res 79:45–54 van Kammen DP, Kelley ME, Gilbertson MW, Gurklis J, O’Connor DT (1994) CSF dopamine β-hydroxylase in schizophrenia: associations with premorbid functioning and brain computerized tomography scan measures. Am J Psychiatry 151:372–378 Wakabayashi K, Takahashi H (1997) Neuropathology of autonomic nervous system in Parkinson’s disease. Eur Neurol 38:2–7 Wei J, Ramchand CN, Hemmings GP (1997a) Possible control of dopamine beta-hydroxylase via a codominant mechanism associated with the polymorphic (GT)n repeat at its gene locus in healthy individuals. Hum Genet 99:52–55 Wei J, Hai-Min X, Ramchand CN, Hemmings GP (1997b) Is the polymorphic microsatellite repeat of the dopamine β-hydroxylase gene associated with biochemical variability of the catecholamine pathway in schizophrenia? Biol Psychiatry 41:762–767 Weinshilboum RM (1978) Serum dopamine-β-hydroxylase. Pharmacol Rev 30:133–166 Weinshilboum RM, Axelrod J (1971) Serum dopamine β-hydroxylase. Circ Res 28:307–315 Weinshilboum RM, Thoa NB, Johnson DG, Kopin IJ, Axelrod J (1971) Proportional release of norepinephrine and dopamine β-hydroxylase from sympathetic nerves. Science 174:1349–1351 Weinshilboum RM, Raymond FA, Elvenack LRl, Weidman WH (1973) Serum dopamine-β-hydroxylase: sibling-sibling correlation. Science 181:943–945 Weinshilboum RM, Schrott HG, Raymond FA, Weidman WH, Elvevack LR (1975) Inheritance of very low serum DBH activity. Am J Hum Genet 27:573–585 Wenning GK, Tison F, Ben Shlomo Y, Daniel SE, Quinn NP (1997) Multiple system atrophy: a review of 203 pathologically proven cases. Mov Disord 12:133–147 Wigg K, Zai G, Schachar R, Tannock R, Roberts W, Malone M, Kennedy JL, Barr CL (2002) Attention deficit hyperactivity disorder and the gene for dopamine beta-hydroxylase. Am J Psychiatry 159:1046–1048 Williams HJ, Bray N, Murphy KC, Cardno AG, Jones LA, Owen MJ (1999) No evidence for association between schizophrenia and a functional variant of the human dopamine beta-hydroxylase gene (DBH). Am J Med Genet 88:557–559 Wilson AF, Elston RC, Siervogel RM, Tran LD (1988) Linkage of a gene regulating dopamine-β-hydroxylase activity and the ABO blood group locus. Am J Hum Genet 42:160–166 Wilson AF, Elston RC, Sellers TA, Bailey-Wilson JE, Gerstin JM, Deen DK, Sorant AJM, Tran LD, Amos CI, Siervogel RM (1990) Stepwise oligogenic segregation and linkage analysis illustrated with dopamine-β-hydroxylase activity. Am J Med Genet 35:425–432 Winer N, Carter C (1977) Effect of cold pressor stimulation on plasma norepinephrine, dopamine-β-hydroxylase, and renin activity. Life Sci 20:887–894 Wise CD, Stein L (1973) Dopamine-β-hydroxylase deficits in the brains of schizophrenic patients. Science 181:344–347 Yamamoto K, Cubells JF, Gelernter J, Benkelfat C, Lalonde P, Bloom D, Lal S, Labelle A, Turecki F, Rouleau GA, Joober R (2003) Dopamine beta-hydroxylase (DBH) gene and schizophrenia phenotypic variability: a genetic association study. Am J Med Genet Part B (Neuropsychiatr Genet) 117B:33–38 Yoshita M (1998) Differentiation of idiopathic Parkinson’s disease from striatonigral degeneration and progressive supranuclear palsy using iodine-123 meta-iodobenzylguanidine myocardial scintigraphy. J Neurol Sci 155:60–67 Zabetian CP, Anderson GM, Buxbaum SG, Elston RC, Ichinose H, Nagatsu T, Kim KS, Kim C-H, Malison RT, Gelernter J, Cubells JF (2001) A quantitative trait locus analysis of human dopamine β-hydroxylase activity: evidence for a major functional polymorphism at the DBH locus. Am J Hum Genet 68:515–522 Zabetian CP, Buxbaum SG, Elston RC, Köhnke M, Anderson GM, Gelernter J, Cubells JF (2003a) The Structure of linkage disequilibrium at the DBH locus strongly influences the magnitude of association between diallelic markers and plasma dopamine beta-hydroxylase activity. Am J Hum Genet 72:1389–1400 Zabetian CP, Romero R, Robertson D, Sharma S, Padbury JF, Kuivaniemi H, Kim K-S, Kim C-H, Kohnke MD, Kranzler HR, Gelernter J, Cubells JF (2003b) A revised allele frequency estimate and haplotype analysis of the DBH deficiency mutation IVS1+2T>C in African- and European-Americans. Am J Med Genet 123A:190–192