The lumbar puncture for diagnosis of pediatric neurotransmitter diseases

Annals of Neurology

Volumn 54, Issue SUPPL. 6, 2003, Pages

  Hyland, Keith ^a  

^a BAYLOR UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CATECHOLAMINE; DOPAMINE; NORADRENALIN; SEROTONIN;

BIOSYNTHESIS; BODY FLUID; CATECHOLAMINE METABOLISM; CATECHOLAMINE SYNTHESIS; CEREBROSPINAL FLUID ANALYSIS; CLINICAL FEATURE; CONFERENCE PAPER; DIAGNOSTIC PROCEDURE; HUMAN; HYPERPHENYLALANINEMIA; LABORATORY DIAGNOSIS; LUMBAR PUNCTURE; MEASUREMENT; METABOLITE; NEUROLOGIC DISEASE; NEUROTRANSMISSION; PEDIATRIC NEUROTRANSMITTER DISEASE; PRIORITY JOURNAL; SAMPLING; SEROTONIN METABOLISM; TECHNIQUE;

CHILD; HUMANS; NERVOUS SYSTEM DISEASES; NEUROTRANSMITTER AGENTS; SPINAL PUNCTURE;

EID: 0041866529     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.10627     Document Type: Conference Paper

References (29)

1. Hyland K, Surtees RA, Rodeck C, Clayton PT. Aromatic L-amino acid decarboxylase deficiency: clinical features, diagnosis, and treatment of a new inborn error of neurotransmitter amine synthesis. Neurology 1992;42:1980-1988.
2. Segawa M, Hosaka A, Miyagawa F, et al. Hereditary progressive dystonia with marked diurnal fluctuation. In: Eldredge R, Fahn S, eds. Advances in neurology. New York: Raven, 1976:215-220.
3. Nygaard TG. Dopa-responsive dystonia: delineation of the clinical syndrome and clues to pathogenesis. Adv Neurol 1993;60:577-585.
4. Furukawa Y, Kish SJ, Bebin EM, et al. Dystonia with motor delay in compound heterozygotes for GTP-cyclohydrolase I gene mutations. Ann Neurol 1998;44:10-16.
5. Nardocci N, Zorzi G, Blau N, et al. Neonatal dopa-responsive extrapyramidal syndrome in twins with recessive GTPCH deficiency. Neurology 2003;60:335-337.
6. Bonafe L, Thony B, Penzien JM, et al. Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia. Am J Hum Genet 2001;69:269-277.
7. Brautigam C, Steenbergen-Spanjers GC, Hoffmann GF, et al. Biochemical and molecular genetic characteristics of the severe form of tyrosine hydroxylase deficiency. Clin Chem 1999;45:2073-2078.
8. Furukawa Y, Graf WD, Wong H, et al. Dopa-responsive dystonia simulating spastic paraplegia due to tyrosine hydroxylase (TH) gene mutations. Neurology 2001;56:260-263.
9. Swaans RJ, Rondot P, Renier WO, et al. Four novel mutations in the tyrosine hydroxylase gene in patients with infantile parkinsonism. Ann Hum Genet 2000;64:25-31.
10. Ludecke B, Knappskog PM, Clayton PT, et al. Recessively inherited L-DOPA-responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene. Hum Mol Genet 1996;5:1023-1028.
11. Knappskog PM, Flatmark T, Mallet J, et al. Recessively inherited L-DOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene. Hum Mol Genet 1995;4:1209-1212.
12. Swoboda KJ, Hyland K, Goldstein DS, et al. Clinical and therapeutic observations in aromatic L-amino acid decarboxylase deficiency. Neurology 1999;53:1205-1211.
13. Burlina AB, Burlina AP, Hyland K, et al. Autistic syndrome and aromatic L-amino acid decarboxylase (AADC) deficiency. J Inherit Metab Dis 2001;24(suppl 1):34
14. Brautigam C, Hyland K, Wevers R. et al. Clinical and laboratory findings in twins with neonatal epileptic encephalopathy mimicking aromatic L-amino acid decarboxylase deficiency. Neuropediatrics 2002;33:113-117.
15. Robertson D, Haile V, Perry SE, et al. Dopamine beta-hydroxylase deficiency: a genetic disorder of cardiovascular regulation. Hypertension 1991;18:1-8.
16. Brunner HG, Nelen M, Breakefield XO, et al. Abnormal behavior associated with a point mutation in the structural gene for monoamine oxidase A. Science 1993;262:578-580.
17. Man in 't Veld AJ, Boomsma F, Moleman P, Schalekamp MA. Congenital dopamine-beta-hydroxylase deficiency: a novel orthostatic syndrome. Lancet 1987;1:183-188.
18. Thomas SA, Matsumoto AM, Palmiter RD. Noradrenaline is essential for mouse fetal development. Nature 1995;374:643-646.
19. Kruesi MJ, Swedo SE, Hamburger SD, et al. Concentration gradient of CSF monoamine metabolites in children and adolescents. Biol Psychiatry 1988;24:507-514.
20. Howells DW, Hyland K. Direct analysis of tetrahydrobiopterin in cerebrospinal fluid by high-performance liquid chromatography with redox electrochemistry: prevention of autoxidation during storage and analysis. Clin Chim Acta 1987;167:23-30.
21. Hyland K, Surtees RA, Heales SJ, et al. Cerebrospinal fluid concentrations of pterins and metabolites of serotonin and dopamine in a pediatric reference population. Pediatr Res 1993;34:10-14.
22. Hyland K, Peterschmitt MJ, Soull JS, et al. Confusing CSF neurochemical picture suggesting 6-pyruvoyltetrahydropterin synthase deficiency in neonates with probable hypoxic-ischemic encephalopathy. J Inherit Metab Dis 1999;22:18
23. Hyland K, Nygaard TG, Trugman JM, et al. Oral phenylalanine loading profiles in symptomatic and asymptomatic gene carriers with dopa-responsive dystonia due to dominantly inherited GTP cyclohydrolase deficiency. J Inherit Metab Dis 1999;22:213-215.
24. Blau N, Bonafe L, Thony B. Tetrahydrobiopterin deficiencies without hyperphenylalaninemia: diagnosis and genetics of dopa-responsive dystonia and sepiapterin reductase deficiency. Mol Genet Metab 2001;74:172-185.
25. Zorzi G, Redweik U, Trippe H, et al. Detection of sepiapterin in CSF of patients with sepiapterin reductase deficiency. Mol Genet Metab 2002;75:174-177.
26. Bonafe L, Thony B, Leimbacher W, et al. Diagnosis of dopa-responsive dystonia and other tetrahydrobiopterin disorders by the study of biopterin metabolism in fibroblasts. Clin Chem 2001;47:477-485.
27. Hyland K, Clayton PT. Aromatic L-amino acid decarboxylase deficiency: diagnostic methodology. Clin Chem 1992;38:2405-2410.
28. Garcia J, Rosen G, Mahowald M. Circadian rhythms and circadian rhythm disorders in children and adolescents. Semin Pediatr Neurol 2001;8:229-240.
29. Zucconi M, Bruni O. Sleep disorders in children with neurologic diseases. Semin Pediatr Neurol 2001;8:258-275.