Literature DB >> 12185162

Dermal microdialysis provides evidence for hypersensitivity to noradrenaline in patients with familial dysautonomia.

A Bickel1, F B Axelrod, M Schmelz, H Marthol, M J Hilz.   

Abstract

OBJECTIVES: To use the technique of dermal microdialysis to examine sensitivity of skin vessels to noradrenaline (NA) in patients with familial dysautonomia (FD) and in healthy controls.
METHODS: In 14 patients with FD and 12 healthy controls, plasma extravasation, local laser Doppler blood flow, and skin blanching were observed before, during, and after application of 10(-6) M NA through a microdialysis membrane, located intradermally in the skin of the lower leg.
RESULTS: Maximum local vasoconstriction measured by laser Doppler blood flow did not differ between patients with FD and controls. In contrast, patients with FD had an earlier onset of vasoconstriction (p = 0.02). Moreover, reaction to NA was more prominent and prolonged in FD, shown by a larger zone of skin blanching around the microdialysis membrane (p < 0.001) and delayed reduction of the protein content in the dialysate after termination of NA application (p = 0.03).
CONCLUSION: These data support the hypothesis that peripheral blood vessels of patients with FD show a denervation hypersensitivity to catecholamines. This may be one mechanism contributing to the major hypertension that frequently occurs during "dysautonomic crises" in FD.

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Year:  2002        PMID: 12185162      PMCID: PMC1738047          DOI: 10.1136/jnnp.73.3.299

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN: 0022-3050            Impact factor:   10.154


  15 in total

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2.  Plasma extravasation and neuropeptide release in human skin as measured by intradermal microdialysis.

Authors:  M Schmelz; O Luz; B Averbeck; A Bickel
Journal:  Neurosci Lett       Date:  1997-07-18       Impact factor: 3.046

3.  Pattern of plasma levels of catecholamines in familial dysautonomia.

Authors:  F B Axelrod; D S Goldstein; C Holmes; D Berlin; I J Kopin
Journal:  Clin Auton Res       Date:  1996-08       Impact factor: 4.435

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Authors:  M M Bradford
Journal:  Anal Biochem       Date:  1976-05-07       Impact factor: 3.365

Review 5.  Familial dysautonomia: diagnosis, pathogenesis and management.

Authors:  F B Axelrod; R Nachtigal; J Dancis
Journal:  Adv Pediatr       Date:  1974

6.  Quantitative studies of sympathetic ganglia and spinal cord intermedio-lateral gray columns in familial dysautonomia.

Authors:  J Pearson; B A Pytel
Journal:  J Neurol Sci       Date:  1978-11       Impact factor: 3.181

7.  Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia.

Authors:  S A Slaugenhaupt; A Blumenfeld; S P Gill; M Leyne; J Mull; M P Cuajungco; C B Liebert; B Chadwick; M Idelson; L Reznik; C Robbins; I Makalowska; M Brownstein; D Krappmann; C Scheidereit; C Maayan; F B Axelrod; J F Gusella
Journal:  Am J Hum Genet       Date:  2001-01-22       Impact factor: 11.025

8.  Deficient sympathetic nervous response in familial dysautonomia.

Authors:  M G Ziegler; C R Lake; I J Kopin
Journal:  N Engl J Med       Date:  1976-03-18       Impact factor: 91.245

9.  Quantitative studies of dorsal root ganglia and neuropathologic observations on spinal cords in familial dysautonomia.

Authors:  J Pearson; B A Pytel; N Grover-Johnson; F Axelrod; J Dancis
Journal:  J Neurol Sci       Date:  1978-01       Impact factor: 3.181

10.  Atrial natriuretic peptide response to postural change and medication in familial dysautonomia.

Authors:  F B Axelrod; L Krey; J S Glickstein; D Friedman; J Weider; L J Metakis; V M Porges; M Mineo; D Notterman
Journal:  Clin Auton Res       Date:  1994-12       Impact factor: 4.435

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  10 in total

Review 1.  Cardiac pacing in patients with familial dysautonomia--there is nothing simple about sudden death.

Authors:  Angelo Bartoletti
Journal:  Clin Auton Res       Date:  2005-02       Impact factor: 4.435

Review 2.  Hereditary Sensory and Autonomic Neuropathies: Adding More to the Classification.

Authors:  Coreen Schwartzlow; Mohamed Kazamel
Journal:  Curr Neurol Neurosci Rep       Date:  2019-06-20       Impact factor: 5.081

Review 3.  Pacemakers in patients with familial dysautonomia--a review of experience with 20 patients.

Authors:  Gabrielle Gold-von Simson; Monika Rutkowski; Dena Berlin; Felicia B Axelrod
Journal:  Clin Auton Res       Date:  2005-02       Impact factor: 4.435

4.  Cardiac-locked bursts of muscle sympathetic nerve activity are absent in familial dysautonomia.

Authors:  Vaughan G Macefield; Lucy Norcliffe-Kaufmann; Felicia B Axelrod; Horacio Kaufmann
Journal:  J Physiol       Date:  2012-11-19       Impact factor: 5.182

Review 5.  Renal transplantation in familial dysautonomia: report of two cases and review of the literature.

Authors:  Yelena Rekhtman; Andrew S Bomback; Martin A Nash; Scott D Cohen; Albert Matalon; Dominique M Jan; Horacio Kaufmann; Felicia B Axelrod; Jai Radhakrishnan; Gerald B Appel
Journal:  Clin J Am Soc Nephrol       Date:  2010-06-17       Impact factor: 8.237

Review 6.  The molecular basis of familial dysautonomia: overview, new discoveries and implications for directed therapies.

Authors:  Berish Y Rubin; Sylvia L Anderson
Journal:  Neuromolecular Med       Date:  2007-11-06       Impact factor: 3.843

7.  [Syncope from the viewpoint of a neurologist].

Authors:  A Bickel; J Röther
Journal:  Herz       Date:  2014-06       Impact factor: 1.443

8.  Sudomotor function in familial dysautonomia.

Authors:  A Bickel; F B Axelrod; H Marthol; M Schmelz; M J Hilz
Journal:  J Neurol Neurosurg Psychiatry       Date:  2004-02       Impact factor: 10.154

Review 9.  IKBKAP/ELP1 gene mutations: mechanisms of familial dysautonomia and gene-targeting therapies.

Authors:  Berish Y Rubin; Sylvia L Anderson
Journal:  Appl Clin Genet       Date:  2017-12-15

Review 10.  Hereditary sensory and autonomic neuropathies: types II, III, and IV.

Authors:  Felicia B Axelrod; Gabrielle Gold-von Simson
Journal:  Orphanet J Rare Dis       Date:  2007-10-03       Impact factor: 4.123

  10 in total

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