Approach to the diagnosis of neurotransmitter diseases exemplified by the differential diagnosis of childhood-onset dystonia

Annals of Neurology

Volumn 54, Issue SUPPL. 6, 2003, Pages

  Assmann, Birgit ^a   Surtees, Robert ^b   Hoffmann, Georg F ^a  

^a UNIVERSITY HOSPITAL DÜSSELDORF   (Germany)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD ANALYSIS; CEREBROSPINAL FLUID ANALYSIS; CLINICAL EXAMINATION; CLINICAL FEATURE; CONFERENCE PAPER; DIAGNOSTIC ERROR; DIAGNOSTIC VALUE; DIFFERENTIAL DIAGNOSIS; DYSTONIA; EARLY DIAGNOSIS; HUMAN; INBORN ERROR OF METABOLISM; LABORATORY TEST; LUMBAR PUNCTURE; NEUROLOGIC DISEASE; ONSET AGE; PEDIATRIC NEUROTRANSMITTER DISEASE; PRIORITY JOURNAL; SYMPTOM; TECHNIQUE; URINALYSIS;

CHILD; CHILD, PRESCHOOL; DYSTONIA MUSCULORUM DEFORMANS; HUMANS; INFANT; NERVOUS SYSTEM DISEASES; NEUROTRANSMITTER AGENTS;

EID: 0041365754     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.10628     Document Type: Conference Paper

References (30)

1. Jaeken J, Jacobs C, Wevers R, Disorders of neurotransmission. In: Fernandes J, Saudubray J-M, van der Berghe G, eds. Inborn metabolic diseases. Berlin: Springer, 2000:300-311.
2. Torres OA, Miller VS, Buist NM, Hyland K. Folinic acid-responsive neonatal seizures. J Child Neurol 1999;14(8): 529-532.
3. Gibson KM, Hoffmann GF, Hodson AK, et al. 4-Hydroxybutyric acid and the clinical phenotype of succinic semialdehyde dehydrogenase deficiency, an inborn error of GABA metabolism. Neuropediatrics 1998;29(1):14-22.
4. Robinson R, McCarthy GT, Bandmann O, et al. GTP cyclohydrolase deficiency: intrafamilial variation in clinical phenotype, including levodopa responsiveness. J Neurol Neurosurg Psychiatry 1999;66(1):86-89.
5. Barbot C, Martins E, Vilarinho L, et al. A mild form of infantile isolated sulphite oxidase deficiency. Neuropediatrics 1995;26(6):322-324.
6. Hoffmann GF, Surtees RA, Wevers RA. Cerebrospinal fluid investigations for neurometabolic disorders. Neuropediatrics 1998;29(2):59-71.
7. Surtees R, Hyland K. Cerebrospinal fluid concentrations of S-adenosylmethionine, methionine, and 5-methyltetrahydrofolate in a reference population: cerebrospinal fluid S-adenosylmethionine declines with age in humans. Biochem Med Metab Biol 1990;44(2):192-199.
8. 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(1):10-14.
9. Dobbie MS, Surtees RA. Concentrations of quinolinic acid in cerebrospinal fluid measured by gas chromatography and electron-impact ionisation mass spectrometry: age-related changes in a paediatric reference population. J Chromatogr B Biomed Sci Appl 1997;696(1):53-58.
10. Surtees R, Heales S. A rostrocaudal gradient of nitrate plus nitrite concentrations in CSF. J Neurol Neurosurg Psychiatry 1997;62(1):100-101.
11. Brautigam C, Wevers RA, Jansen RJ, et al. Biochemical hallmarks of tyrosine hydroxylase deficiency. Clin Chem 1998;44(9):1897-1904.
12. Jaeken J. Cerebrospinal fluid as a tool in the diagnosis of neurometabolic diseases: amino acid analysis before and after acid hydrolysis. Eur J Pediatr 1994;153(7 suppl 1):86-89.
13. Mayatepek E, Zelezny R, Lehmann WD, et al. Defects in the synthesis of cysteinyl leukotrienes: a new group of inborn errors of metabolism. J Inherit Metab Dis 2000;23(4):404-408.
14. 1H-NMR spectroscopy of body fluids: inborn errors of purine and pyrimidine metabolism. Clin Chem 1999;45(4):539-548.
15. Fernandez-Alvarez E, Aicardi J. Movement disorders with dystonia or athetosis as main clinical manifestation: movement disorders in children. London: MacKeith Press, 2001:79-129.
16. von Figura K, Hanefeld F, Isbrant D, Stoelder-Ipsiroglu S. Guanidinoacetate methyltransferase deficiency. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic and molecular bases of inherited disease. New York: McGraw-Hill, 2001:1897-1908.
17. Surtees R, Clayton P. Infantile parkinsonism-dystonia: tyrosine hydroxylase deficiency. Movement Disord 1998;13:350.
18. Klepper J, Voit T. Facilitated glucose transporter protein type 1 (GLUT 1) deficiency syndrome: impaired glucose transport into brain - a review. Eur J Pediatr 2002;161(6):295-304.
19. Bonafé 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.
20. Dale RC, Church AJ, Benton S, et al. Post-streptococcal autoimmune dystonia with isolated striatal necrosis. Dev Med Child Neurol 2002;(44):485-489.
21. Nemeth AH. The genetics of primary dystonias and related disorders. Brain 2002;125(part 4):695-721.
22. Zimprich A, Grabowski M, Asmus F, et al. Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome. Nat Genet 2001;29(1):66-69.
23. Guerrini R. Idiopathic epilepsy and paroxysmal dyskinesia. Epilepsia 2001;42(suppl 3):36-41.
24. Bhatia KP. Familial (idiopathic) paroxysmal dyskinesias: an update. Semin Neurol 2001;21(1):69-74.
25. Bandmann O, Nygaard TG, Surtees R, et al. Dopa-responsive dystonia in British patients: new mutations of the GTP-cyclohydrolase I gene and evidence for genetic heterogeneity. Hum Mol Genet 1996;5(3):403-406.
26. Bandmann O, Valente EM, Holmans P, et al. Dopa-responsive dystonia: a clinical and molecular genetic study. Ann Neurol 1998;44(4):649-656.
27. Bartholome K, Ludecke B. Mutations in the tyrosine hydroxylase gene cause various forms of L-dopa-responsive dystonia. Adv Pharmacol 1998;42:48-49.
28. Hyland K, Fryburg JS, Wilson WG, et al. Oral phenylalanine loading in dopa-responsive dystonia: a possible diagnostic test. Neurology 1997;48(5):1290-1297.
29. Hartmann A, Pogarell O, Oertel WH. Secondary dystonias. J Neurol 1998;245(8):511-518.
30. Ozand PT, Gascon GG, Al-Essa M, et al. Biotin-responsive basal ganglia disease: a novel entity. Brain 1998;121(part 7):1267-1279.