Sudomotor function in familial dysautonomia

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 75, Issue 2, 2004, Pages 275-279

  Bickel, A ^b   Axelrod, F B ^a   Marthol, H ^b   Schmelz, M ^c   Hilz, M J ^a,b  

^a NEW YORK UNIVERSITY MEDICAL CENTER   (United States)

^b UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^c UNIVERSITY OF MANNHEIM   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ACETYLCHOLINE; CARRIER PROTEIN; DIAGNOSTIC AGENT; IKAP PROTEIN;

ADOLESCENT; ADULT; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; CORRELATION ANALYSIS; DENERVATION; DYSAUTONOMIA; FEMALE; GENETICS; HUMAN; HYPERHIDROSIS; HYPERSENSITIVITY; INTERSTITIAL FLUID; INTRADERMAL DRUG ADMINISTRATION; MALE; METABOLISM; MICRODIALYSIS; MOTOR NERVE; NERVE FIBER; NONMYELINATED NERVE; PATHOPHYSIOLOGY; PHYSIOLOGY; PLASMAPHERESIS; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; REFLEX; RELIABILITY; SKIN WATER LOSS; SWEAT GLAND; SWEAT GLAND FUNCTION; SWEATING;

ACETYLCHOLINE; ADOLESCENT; ADULT; AXONS; CARRIER PROTEINS; DYSAUTONOMIA, FAMILIAL; FEMALE; HUMANS; HYPERHIDROSIS; INJECTIONS, INTRADERMAL; MALE; MICRODIALYSIS; MIDDLE AGED; NERVE FIBERS, UNMYELINATED; PLASMAPHERESIS; REFLEX; SWEAT GLANDS;

EID: 0842309203     PISSN: 00223050     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (25)

1. Axelrod FB. Familial dysautonomia. In: E.S. Roach, Miller VS, eds. Neurocutaneous syndromes. Cambridge: Cambridge University Press, 2003, in press.
2. Axelrod FB, Pearson J. Congenital sensory neuropathies. Diagnostic distinction from familial dysautonomia. Am J Dis Child 1984;138:947-54.
3. Axelrod FB, Nachtigal R, Dancis J. Familial dysautonomia: diagnosis, pathogenesis and management. Adv Pediatr 1974;21:75-96.
4. Pearson J, Pytel BA, Grover-Johnson N, et al. Quantitative studies of dorsal root ganglia and neuropathologic observations on spinal cords in familial dysautonomia. J Neurol Sci 1978;35:77-92.
5. Pearson J, Pytel BA. Quantitative studies of sympathetic ganglia and spinal cord intermedio-lateral gray columns in familial dysautonomia. J Neurol Sci 1978;39:47-59.
6. Smith AA, Hui FW. Unmyelinated nerves in familial dysautonomia. Neurology 1973;23:8-11.
7. Hilz MJ, Axelrod FB, Schweibold G, et al. Sympathetic skin response following thermal, electrical, acoustic, and inspiratory gasp stimulation in familial dysautonomia patients and healthy persons. Clin Auton Res 1999;9:165-77.
8. Gadoth N. Familial dysautonomia: hereditary autonomic and sensory neuropathy type III. In: Korczyn AD, ed. Handbook of autonomic nervous system dysfunction. New York: Dekker, 1995:95-115.
9. Green M, Behrendt H. Sweat gland reactivity to local thermal stimulation in dysautonomia. Am J Dis Child 1976;130:816-18.
10. Low PA, Caskey PE, Tuck RR, et al. Quantitative sudomotor axon reflex test in normal and neuropathic subjects. Ann Neurol 1983;14:573-80.
11. Slaugenhaupt SA, Blumenfeld A, Gill SP, et al. Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia. Am J Hum Genet 2001;68:598-605.
12. Schmelz M, Luz O, Averbeck B, et al. Plasma extravasation and neuropeptide release in human skin as measured by intradermal microdialysis. Neurosci Lett 1997;230:117-20.
13. Bradford MM. A rapid and sensitive method for the quantification of microgram quantities of protein utilizing the principle of protein-dye binding. Ann Biochem 1976;72:248-54.
14. Benarroch EE, Low PA. The acetylcholine-induced flare response in evaluation of small fiber dysfunction. Ann Neurol 1991;29:590-5.
15. Bickel A, Axelrod FB, Schmelz M, et al. Dermal microdialysis provides evidence for hypersensitivity to noradrenaline in patients with familial dysautonomia. J Neurol Neurosurg Psychiatr 2002;73:299-302.
16. Low PA, Opfer GT, Kihara M. In vivo studies on receptor pharmacology of the human eccrine sweat gland. Clin Autonom Res 1992;2:29-34.
17. Van Sam V, Passet J, Maillols H, et al. TEWL measurement standardization: kinetic and topographic aspects. Acta Derm Venereal 1994;74:168-70.
18. Thysman S, Van Neste D, Preat V. Noninvasive investigation of human skin after in vivo iontophoresis. Skin Pharmacol 1995;8:229-36.
19. Hilz MJ, Kennedy WR, Stemper B, et al. Cutaneous innervation in familial dysautonomia. Clin Autonom Res 2001;11:182.
20. Vilches JJ, Rodriguez FJ, Verdu E, et al. Changes in cholinergic responses of sweat glands during denervation and reservation. J Auton Nerv Syst 1998;74:134-42.
21. Grant MP, Landis SC, Siegel RE. The molecular and pharmacological properties of muscarinic cholinergic receptors expressed by rat sweat glands are unaltered by denervation. J Neurosci 1991;11:3763-71.
22. Baser SM, Meer J, Polinsky RJ, et al. Sudomotor function in autonomic failure. Neurology 1991;41:1564-66.
23. Mittag TW, Mindel JS, Green JP. Trophic functions of the neuron. V. Familial dysautonomia. Choline acetyltransferase in familial dysautonomia. Ann NY Acad Sci 1974;228:301-6.
24. Smith A, Dancis J. Exaggerated response to infused norepinephrine in familial dysautonomia. New Engl J Med 1964;270:704-7.
25. Chemali KR, Gorodeski R, Chelimsky TC. Alpha-adrenergic supersensitivity of the sudomotor nerve in complex regional pain syndrome. Ann Neurol 2001;49:453-9.