Felicia B Axelrod

Summary

Affiliation: New York University
Country: USA

Publications

  1. ncbi request reprint Fludrocortisone in patients with familial dysautonomia--assessing effect on clinical parameters and gene expression
    Felicia B Axelrod
    Dept of Pediatrics, New York University School of Medicine, New York, NY, USA
    Clin Auton Res 15:284-91. 2005
  2. ncbi request reprint Pediatric autonomic disorders
    Felicia B Axelrod
    Dysautonomia Treatment and Evaluation Center, Department of Pediatrics and Neurology, New York University School of Medicine, 530 First Ave, Suite 9Q, New York, New York 10016, USA
    Pediatrics 118:309-21. 2006
  3. ncbi request reprint A world without pain or tears
    Felicia B Axelrod
    Dysautonomia Treatment and Evaluation Center, NYU Medical Center, 530 First Avenue, Suite 9Q, New York, NY 10016, USA
    Clin Auton Res 16:90-7. 2006
  4. pmc Hereditary sensory and autonomic neuropathies: types II, III, and IV
    Felicia B Axelrod
    Department of Pediatrics, New York University School of Medicine, New York, USA
    Orphanet J Rare Dis 2:39. 2007
  5. ncbi request reprint Familial dysautonomia: a review of the current pharmacological treatments
    Felicia B Axelrod
    Department of Pediatrics, New York University School of Medicine, 530 First Avenue, New York, NY 10016, USA
    Expert Opin Pharmacother 6:561-7. 2005
  6. doi request reprint Kinetin in familial dysautonomia carriers: implications for a new therapeutic strategy targeting mRNA splicing
    Gabrielle Gold-von Simson
    Department of Pediatrics, New York University School of Medicine, New York, New York 10016, USA
    Pediatr Res 65:341-6. 2009
  7. pmc Kinetin improves IKBKAP mRNA splicing in patients with familial dysautonomia
    Felicia B Axelrod
    Department of Pediatrics, New York University School of Medicine, New York, New York 10016, USA
    Pediatr Res 70:480-3. 2011
  8. pmc A rating scale for the functional assessment of patients with familial dysautonomia (Riley Day syndrome)
    Felicia B Axelrod
    Department of Pediatrics, New York University School of Medicine, New York, NY, USA
    J Pediatr 161:1160-5. 2012
  9. ncbi request reprint IKBKAP mRNA in peripheral blood leukocytes: a molecular marker of gene expression and splicing in familial dysautonomia
    Gabrielle Gold-von Simson
    Department of Pediatrics, New York University School of Medicine, New York, New York 10016, USA
    Pediatr Res 63:186-90. 2008
  10. doi request reprint Neoplasia in familial dysautonomia: a 20-year review in a young patient population
    Gabrielle Gold-von Simson
    New York University School of Medicine, Department of Pediatrics, New York, NY 10016, USA
    J Pediatr 155:934-6. 2009

Collaborators

Detail Information

Publications44

  1. ncbi request reprint Fludrocortisone in patients with familial dysautonomia--assessing effect on clinical parameters and gene expression
    Felicia B Axelrod
    Dept of Pediatrics, New York University School of Medicine, New York, NY, USA
    Clin Auton Res 15:284-91. 2005
    ..Our data suggest that fludrocortisone has clinical efficacy despite negative in vitro observations on gene expression...
  2. ncbi request reprint Pediatric autonomic disorders
    Felicia B Axelrod
    Dysautonomia Treatment and Evaluation Center, Department of Pediatrics and Neurology, New York University School of Medicine, 530 First Ave, Suite 9Q, New York, New York 10016, USA
    Pediatrics 118:309-21. 2006
    ..To illustrate further the breadth and complexities of autonomic dysfunction, some pediatric disorders are described, concentrating on those that present at birth or appear in early childhood...
  3. ncbi request reprint A world without pain or tears
    Felicia B Axelrod
    Dysautonomia Treatment and Evaluation Center, NYU Medical Center, 530 First Avenue, Suite 9Q, New York, NY 10016, USA
    Clin Auton Res 16:90-7. 2006
    ..This article reviews the current supportive treatment modalities and their rationale, as well as the suggested new treatments that may alter the function and prognosis of an individual affected with FD...
  4. pmc Hereditary sensory and autonomic neuropathies: types II, III, and IV
    Felicia B Axelrod
    Department of Pediatrics, New York University School of Medicine, New York, USA
    Orphanet J Rare Dis 2:39. 2007
    ..Treatments for all these disorders are supportive...
  5. ncbi request reprint Familial dysautonomia: a review of the current pharmacological treatments
    Felicia B Axelrod
    Department of Pediatrics, New York University School of Medicine, 530 First Avenue, New York, NY 10016, USA
    Expert Opin Pharmacother 6:561-7. 2005
    ..With the identification of the familial dysautonomia gene, it has been suggested that it may be possible to treat patients by modifying production and expression of the genetic product...
  6. doi request reprint Kinetin in familial dysautonomia carriers: implications for a new therapeutic strategy targeting mRNA splicing
    Gabrielle Gold-von Simson
    Department of Pediatrics, New York University School of Medicine, New York, New York 10016, USA
    Pediatr Res 65:341-6. 2009
    ..Furthermore, our findings support our hypothesis that treatments, which target a particular splicing mutation, can be successfully developed...
  7. pmc Kinetin improves IKBKAP mRNA splicing in patients with familial dysautonomia
    Felicia B Axelrod
    Department of Pediatrics, New York University School of Medicine, New York, New York 10016, USA
    Pediatr Res 70:480-3. 2011
    ..This is the first report of a drug that produces in vivo mRNA splicing changes in individuals with FD and supports future long-term trials to determine whether kinetin will prove therapeutic in FD patients...
  8. pmc A rating scale for the functional assessment of patients with familial dysautonomia (Riley Day syndrome)
    Felicia B Axelrod
    Department of Pediatrics, New York University School of Medicine, New York, NY, USA
    J Pediatr 161:1160-5. 2012
    ..To develop a reliable rating scale to assess functional capacity in children with familial dysautonomia, evaluate changes over time, and determine whether severity within a particular functional category at a young age affected survival...
  9. ncbi request reprint IKBKAP mRNA in peripheral blood leukocytes: a molecular marker of gene expression and splicing in familial dysautonomia
    Gabrielle Gold-von Simson
    Department of Pediatrics, New York University School of Medicine, New York, New York 10016, USA
    Pediatr Res 63:186-90. 2008
    ..Levels of IKBKAP mRNA in peripheral blood leukocytes can be used to assess molecular response to therapies aimed at enhancing exon 20 inclusion and increasing cellular levels of ELP1/IKAP...
  10. doi request reprint Neoplasia in familial dysautonomia: a 20-year review in a young patient population
    Gabrielle Gold-von Simson
    New York University School of Medicine, Department of Pediatrics, New York, NY 10016, USA
    J Pediatr 155:934-6. 2009
    ..We hypothesize that the IkappaB Kinase-associated protein gene mutation, which causes aberrant RNA splicing in patients with familial dysautonomia, may contribute to tumorigenesis in this genetically homogenous patient population...
  11. doi request reprint Cyclic vomiting associated with excessive dopamine in Riley-day syndrome
    Lucy J Norcliffe-Kaufmann
    Department of Physiology and Neuroscience, New York University School of Medicine, New York, NY, USA
    J Clin Gastroenterol 47:136-8. 2013
    ..To analyze the neurochemical profile during the recurrent attacks of nausea and vomiting in patients with Riley-day syndrome...
  12. ncbi request reprint Familial dysautonomia: update and recent advances
    Gabrielle Gold-von Simson
    New York University Medical Center, Familial Dysautonomia Treatment and Evaluation Center, New York, New York, USA
    Curr Probl Pediatr Adolesc Health Care 36:218-37. 2006
  13. ncbi request reprint Assessing function and pathology in familial dysautonomia: assessment of temperature perception, sweating and cutaneous innervation
    Max J Hilz
    Department of Neurology, New York University Medical Center, 550 First Avenue, Suite NB 7W11, New York, NY, 10016, USA
    Brain 127:2090-8. 2004
    ..Decreased SP and CGRP-ir nerves suggest that the FD gene mutation causes secondary neurotransmitter depletions. Empty Schwann cell sheaths and VIP-ir nerves suggest active denervation and regeneration...
  14. ncbi request reprint Cushing syndrome from topical foam steroid use in an adolescent male
    Gabrielle Gold-von Simson
    Department of Pediatrics, New York University School of Medicine, New York, USA
    Clin Pediatr (Phila) 45:97-100. 2006
  15. ncbi request reprint Terminal vessel hyperperfusion despite organ hypoperfusion in familial dysautonomia
    Brigitte Stemper
    Department of Neurology, New York University, New York, NY, USA
    Clin Sci (Lond) 105:295-301. 2003
    ..Both the reduced limb perfusion and the dysfunctional end-organ blood supply in FD patients are likely to be major contributors to the vasomotor instability observed in these subjects, particularly during periods of stress...
  16. ncbi request reprint A reinforced suture line prevents recurrence after fundoplication in patients with familial dysautonomia
    Evan P Nadler
    Division of Pediatric Surgery, Department of Surgery, New York University School of Medicine, New York, NY 10016, USA
    J Pediatr Surg 42:653-6. 2007
    ..We reviewed our results with adaptations to the Nissen fundoplication to determine which would be most effective in preventing the need for reoperation...
  17. doi request reprint Clinical neuro-ophthalmic findings in familial dysautonomia
    Carlos E Mendoza-Santiesteban
    Dysautonomia Center, NYU Langone Medical Center, New York University, New York, NY, USA
    J Neuroophthalmol 32:23-6. 2012
    ..To define the clinical neuro-ophthalmic abnormalities of patients with familial dysautonomia (FD)...
  18. doi request reprint Peripheral arthropathy in hereditary sensory and autonomic neuropathy types III and IV
    David S Feldman
    Division of Pediatric Orthopaedic Surgery, New York University Hospital for Joint Diseases, New York, NY 10003, USA
    J Pediatr Orthop 29:91-7. 2009
    ....
  19. ncbi request reprint Assessing efficacy of high-frequency chest wall oscillation in patients with familial dysautonomia
    Philip Giarraffa
    Dysautonomia Center, New York University Medical Center, New York University School Medicine, NY, USA
    Chest 128:3377-81. 2005
    ..0002). CONCLUSION: In this limited study of FD patients, HFCWO effected significant improvements in all measured health outcomes and oxygen saturation; FVC and PEFR were the pulmonary function measures demonstrating sustained improvement...
  20. doi request reprint Neuroimaging supports central pathology in familial dysautonomia
    Felicia B Axelrod
    Department of Pediatrics, New York University School of Medicine, 530 First Avenue, Suite 9Q, New York, NY 10016, USA
    J Neurol 257:198-206. 2010
    ..These neuroimaging results are consistent with clinical visual abnormalities and gait disturbance. Furthermore the frontal lobe atrophy is consistent with previously reported neuropsychological deficits...
  21. doi request reprint Pregabalin: a new approach to treatment of the dysautonomic crisis
    Felicia B Axelrod
    Department of Pediatrics, New York University School of Medicine, New York, New York 10016, USA
    Pediatrics 124:743-6. 2009
    ..Nausea and overt crises markedly decreased in 13 (87%) of these patients and the overall assessments of benefit were extremely favorable, suggesting that pregabalin may be a potentially useful therapeutic agent for this disorder...
  22. ncbi request reprint Pacemakers in patients with familial dysautonomia--a review of experience with 20 patients
    Gabrielle Gold-von Simson
    Dept of Pediatrics, New York University School of Medicine, New York, NY, USA
    Clin Auton Res 15:15-20. 2005
    ..Pacemaker placement may protect FD patients from fatal bradyarrhythmia and may decrease the incidence of syncope. However, data are limited and prospective analysis is needed...
  23. ncbi request reprint Inherited autonomic neuropathies
    Felicia B Axelrod
    Department of Neurology, New Yourk University School of Medicine, New York, NY 10016, USA
    Semin Neurol 23:381-90. 2003
    ..Replacement or definitive therapies are not available for any of the disorders so that treatment remains supportive and directed toward specific symptoms...
  24. ncbi request reprint Familial dysautonomia
    Felicia B Axelrod
    Departments of Pediatrics and Neurology, New York University Medical Center, 530 First Avenue, New York, New York 10016, USA
    Muscle Nerve 29:352-63. 2004
    ..About 40% of patients are over age 20 years. The cause of death is usually pulmonary failure, unexplained sudden deaths, or renal failure. With the discovery of the genetic defect, definitive treatments are anticipated...
  25. ncbi request reprint Familial dysautonomia's impact on quality of life in childhood, adolescence, and adulthood
    Stephen A Sands
    Department of Pediatrics, Herbert Irving Child and Adolescent Oncology Center, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA
    Acta Paediatr 95:457-62. 2006
    ..To evaluate the quality of life (QoL) of children, adolescents, and adults treated for familial dysautonomia (FD), a pervasive neurological disorder...
  26. doi request reprint Complicated peptic ulcer disease in three patients with familial dysautonomia
    David W Wan
    Division of Gastroenterology, Department of Medicine, NYU Langone Medical Center, New York, NY, USA
    J Clin Gastroenterol 45:611-3. 2011
    ..Here, we present the first 3 instances of gastric ulcers in patients with FD and discuss their common presenting features and the special management that was required...
  27. ncbi request reprint Survival in familial dysautonomia: Impact of early intervention
    Felicia B Axelrod
    Department of Pediatrics, New York University School of Medicine, New York City, New York, USA
    J Pediatr 141:518-23. 2002
    ..To assess the effectiveness of advances in supportive centralized care on survival and function in patients with familial dysautonomia (FD)...
  28. ncbi request reprint Growth hormone treatment in children with familial dysautonomia
    Manmohan K Kamboj
    Department of Pediatrics, New York University Medical Center, New York, New York 10016, USA
    J Pediatr 144:63-7. 2004
    ..Growth velocity was analyzed before and during GH treatment at 0 to 6 months, 6 to 12 months, 1 to 2 years, and >2 years...
  29. ncbi request reprint Respiratory and cerebrovascular responses to hypoxia and hypercapnia in familial dysautonomia
    Luciano Bernardi
    New York University Medical Center, New York University School of Medicine, New York, USA
    Am J Respir Crit Care Med 167:141-9. 2003
    ..Higher resting BP delays occurrence of syncope during hypoxia. Therapeutic measures preventing hypoxia/hypocapnia may correct cardiovascular accidents in patients with FD...
  30. doi request reprint Genetic autonomic disorders
    Felicia B Axelrod
    New York University School of Medicine, New York, NY, USA
    Semin Pediatr Neurol 20:3-11. 2013
    ..The possibility of genetic confirmation by molecular testing for specific diagnosis is increasing but treatments tend to remain only supportive and directed toward particular symptoms...
  31. ncbi request reprint Extensive Riga-Fede disease of the lip and tongue
    Andrea L Zaenglein
    Ronald O Perelman Department of Dermatology, New York University School of Medicine, New York 10016, USA
    J Am Acad Dermatol 47:445-7. 2002
    ..We report the case of a 10-month-old boy with extensive Riga-Fede disease involving the lip and tongue that prompted a diagnosis of congenital autonomic dysfunction with universal pain loss...
  32. pmc Renal transplantation in familial dysautonomia: report of two cases and review of the literature
    Yelena Rekhtman
    Department of Medicine, Division of Nephrology, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA
    Clin J Am Soc Nephrol 5:1676-80. 2010
    ..Transplant was performed after 3 months on intermittent hemodialysis (HD) in the first case and after 1 month on twice-weekly continuous veno-venous hemodialysis (CVVHD) in the second case...
  33. ncbi request reprint Anesthesia management of familial dysautonomia
    Jennie Ngai
    Department of Anesthesia, New York University School of Medicine, New York, USA
    Paediatr Anaesth 16:611-20. 2006
    ..This article reviews clinical features of FD that could potentially affect anesthetic management and outlines our present practices...
  34. ncbi request reprint Gastroesophageal reflux in familial dysautonomia: correlation with crisis frequency and sensory dysfunction
    Vinay Sundaram
    Department of Neurology, New York University School of Medicine, New York, New York, USA
    J Pediatr Gastroenterol Nutr 40:429-33. 2005
    ..In this study the authors attempted to determine if GER prevalence correlated with dysautonomic crisis frequency and small fiber sensory dysfunction...
  35. ncbi request reprint Hereditary sensory and autonomic neuropathies. Familial dysautonomia and other HSANs
    Felicia B Axelrod
    Department of Pediatrics, New York University School of Medicine, NY 10016, USA
    Clin Auton Res 12:I2-14. 2002
  36. pmc Tissue-specific reduction in splicing efficiency of IKBKAP due to the major mutation associated with familial dysautonomia
    Math P Cuajungco
    Harvard Institute of Human Genetics, Harvard Medical School, Boston, MA, USA
    Am J Hum Genet 72:749-58. 2003
    ..Therefore, exploration of methods to increase the WT:MU IKBKAP transcript ratio in the nervous system offers a promising approach for developing an effective therapy for patients with FD...
  37. ncbi request reprint Hereditary dysautonomias: current knowledge and collaborations for the future
    Math P Cuajungco
    Harvard Institute of Human Genetics, 77 Avenue Louis Pasteur, HIM Building, Room 422, Boston, MA 02115, USA
    Clin Auton Res 13:180-95. 2003
    ....
  38. ncbi request reprint Genetic disorders as models to understand autonomic dysfunction
    Felicia B Axelrod
    Clin Auton Res 12:I1. 2002
  39. ncbi request reprint Effect of physical countermaneuvers on orthostatic hypotension in familial dysautonomia
    Marcin Tutaj
    Department of Neurology, Jagiellonian University, Botaniczna 3, 31503, Krakow, Poland
    J Neurol 253:65-72. 2006
    ..Suitability and effectiveness of a specific countermaneuver depends on the orthopedic or neurological complications of each FD patient and must be individually tested before a therapeutic recommendation can be given...
  40. ncbi request reprint Orthostatic challenge reveals impaired vascular resistance control, but normal venous pooling and capillary filtration in familial dysautonomia
    Clive M Brown
    Autonomic Laboratory, Department of Neurology, University of Erlangen Nuremberg, Schwabachanlage 6, 91054 Erlangen, Germany
    Clin Sci (Lond) 104:163-9. 2003
    ..This may be due, in part, to a preserved myogenic response to increased vascular pressure in the dependent vascular beds...
  41. doi request reprint Plasma catechols in familial dysautonomia: a long-term follow-up study
    David S Goldstein
    Clinical Neurocardiology Section, National Institute of Neurological Disorders and Stroke, NIH, Building 10 Room 6N252, 10 Center Drive MSC 1620, Bethesda, MD 20892 1620, USA
    Neurochem Res 33:1889-93. 2008
    ..In FD, plasma catechol profiles are sufficiently stable, at least over a decade, to be used as a biomarker of disease involvement. An increasing DOPA:DHPG ratio suggests slight but consistent, progressive loss of noradrenergic neurons...
  42. doi request reprint Cardiac sympathetic hypo-innervation in familial dysautonomia
    David S Goldstein
    Clinical Neurocardiology Section, National Institute of Neurological Disorders and Stroke, NIH, 10 Center Drive MSC 1620, Building 10 Room 6N252, Bethesda, MD 20892 1620, USA
    Clin Auton Res 18:115-9. 2008
    ..Whether such loss extends to sympathetic innervation of the heart has been unknown. This study used 6-[(18)F]fluorodopamine neuroimaging to assess cardiac sympathetic innervation and function in FD...
  43. ncbi request reprint Rescue of a human mRNA splicing defect by the plant cytokinin kinetin
    Susan A Slaugenhaupt
    Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Charlestown, MA 02129, USA
    Hum Mol Genet 13:429-36. 2004
    ..Further, kinetin should be explored as a treatment for increasing the level of normal IKAP in FD, and for other splicing disorders that may share a similar mechanism...
  44. ncbi request reprint Identification of the first non-Jewish mutation in familial Dysautonomia
    Maire Leyne
    Molecular Neurogenetics Unit, Massachusetts General Hospital, Charlestown, USA
    Am J Med Genet A 118:305-8. 2003
    ..In light of this fact, the diagnostic criteria for FD must be expanded. Furthermore, in order to ensure carrier identification in all ethnicities, this mutation must now be considered when screening for FD...