Current Problems in Pediatric and Adolescent Health Care
Volume 36, Issue 6 , Pages 218-237 , July 2006

Familial Dysautonomia: Update and Recent Advances

References 

  1. Riley CM , Day RL , McGreeley D , Langford WS . Central autonomic dysfunction with defective lacrimation. Report of 5 cases . Pediatrics . 1949;3:468–477
  2. Brunt PW , McKusick VA . Familial dysautonomia. A report of genetic and clinical studies with a review of the literature . Medicine . 1970;48:343–374
  3. Data obtained from the Dysautonomia Treatment and Evaluation Center database at NYU Medical Center, New York, 2005.
  4. Anderson SL , Coli R , Daly IW , Kichula EA , Volpi SA , Ekstein J , et al.  Familial dysautonomia is caused by mutations in the IKBKAP gene . Am J Hum Genet . 2001;68:753–758
  5. Slaugenhaupt SA , Blumenfeld A , Gill SP , Leyne M , Mull J , Cuajungco MP , et al.  Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia . Am J Hum Genet . 2001;68:598–605
  6. Axelrod FB , Goldberg JD , Ye XY , Maayan C . Survival in familial dysautonomia (impact of early intervention) . J Pediatr . 2002;141:518–523
  7. Dyck P , Ohta M . Neuronal atrophy and degeneration predominantly affecting peripheral sensory neurons . In:  Dyck PJ ,  Thomas PK ,  Lambert EH editor. Peripheral neuropathy . Vol. II: Philadelphia (PA): WB Saunders; 1975;p. 791
  8. Axelrod FB . Familial dysautonomia (invited review) . Muscle Nerve . 2004;29:352–363
  9. Axelrod FB . Hereditary sensory and autonomic neuropathies (familial dysautonomia and other HSANs) . Clin Auton Res . 2002;12(Suppl 1):2–14
  10. Blumenfeld A , Slaugenhaupt SA , Axelrod FB , Lucente DE , Maayan CH , Lieberg CB , et al.  Localization of the gene for familial dysautonomia on Chromosome 9 and definition of DNA markers for genetic diagnosis . Nat Genet . 1993;4:160–164
  11. Leyne M , Mull J , Gill SP , Cuajungco MP , Oddoux C , Blumenfeld A , et al.  Identification of the first non-Jewish mutation in familial dysautonomia . Am J Med Genet . 2003;118A:305–308
  12. Dong J , Edelmann L , Bajwa AM , Kornreich R , Desnick R . Familial dysautonomia (detection of the IKBKAP IVS20+6T→C and R696P mutations and frequencies among Ashkenazi Jews) . Am J Med Genet . 2002;110:253–257
  13. Sugarman EA , Allitto BA . Familial dysautonomia mutation frequency (clinical testing of greater than 2700 specimens confirms high frequency in Ashkenazi Jews) . Am J Hum Genet . 2002;71(Suppl):387
  14. Cuajungco MP , Leyne M , Gill SP , Mull J , Lu W , Zagzag D , et al.  Tissue-specific reduction in splicing efficiency of IKBKAP due to the major mutation associated with familial dysautonomia . Am J Hum Genet . 2003;72:749–758
  15. Hawkes NA , Otero G , Winkler GS , Marshall N , Dahmus ME , Krappman D , et al.  Purification and characterization of the human elongator complex . J Biol Chem . 2002;277:3047–3052
  16. Pearson J , Axelrod FB , Dancis J . Current concepts of dysautonomia (neurological defects) . Ann NY Acad Sci . 1974;228:288–300
  17. Pearson J , Pytel B . Quantitative studies of sympathetic ganglia and spinal cord intermedio-lateral gray columns in familial dysautonomia . J Neurol Sci . 1978;39:47–59
  18. Hilz MJ , Axelrod FB , Schweibold G , Neuner I , Glorius S , Kolodny EH . Sympathetic skin response (SSR) to thermal stimulation in familial dysautonomia—an objective indicator of sensory small-fibre neuropathy . Rochester, MN: American Autonomic Society Proceedings; 1994; October
  19. Hilz MJ , Axelrod FB . Quantitative sensory testing of thermal and vibratory perception in familial dysautonomia . Clin Auton Res . 2000;10:177–183
  20. Grover-Johnson N , Pearson J . Deficient vascular innervation in familial dysautonomia, an explanation for vasomotor instability . Neuropath Appl Neurobiol . 1976;2:217–224
  21. Pearson J , Gallo G , Gluck M , Axelrod FB . Renal disease in familial dysautonomia . Kidney Int . 1980;17:102–112
  22. Bernardi L , Hilz M , Stemper B , Passino C , Welsch G , Axelrod FB . Respiratory and cerebrovascular responses to hypoxia and hypercapnia in familial dysautonomia . Am J Respir Crit Care Med . 2002;167:141–149
  23. Maayan C , Carley DW , Axelrod FB , Grimes J , Shannon DC . Respiratory system stability and abnormal carbon dioxide homeostasis . J Appl Physiol . 1992;72(3):1186–1193
  24. Goodall G , Gitlow SE , Alton H . Decreased noradrenaline synthesis in FD . J Clin Invest . 1971;50:2734–2740
  25. Smith AA , Dancis J . Physiologic studies in familial dysautonomia . J Pediatr . 1963;63:838–840
  26. Smith AA , Dancis J . Catecholamine release in familial dysautonomia . N Engl J Med . 1967;277:61–64
  27. Smith AA , Taylor T , Wortis SB . Abnormal catecholamine metabolism in familial dysautonomia . N Engl J Med . 1963;268:705–707
  28. Axelrod FB , Goldstein DS , Holmes C , Berlin D , Kopin I . Pattern of plasma catechols in familial dysautonomia . Clin Auton Res . 1996;6:205–209
  29. Axelrod FB , Krey L , Glickstein JS , Freidman D , Weider J , Metaskis L , et al.  Atrial natriuretic peptide and catecholamine response to orthostatic hypotension and treatments in familial dysautonomia . Clin Auton Res . 1994;4:311–318
  30. Ziegler MG , Lake RC , Kopin IJ . Deficient sympathetic nervous system response in familial dysautonomia . N Engl J Med . 1976;294:630–633
  31. Axelrod FB , Zupanc M , Hilz MJ , Kramer EL . Ictal SPECT during autonomic crisis in familial dysautonomia . Neurology . 2000;55:122–125
  32. Axelrod FB , Iyer K , Fish I , Pearson J , Sein ME , Spielholz N . Progressive sensory loss in familial dysautonomia . Pediatrics . 1981;65:517–522
  33. Glickstein JS , Schwartzman D , Friedman D , Rutkowski M , Axelrod FB . Abnormalities of the corrected QT interval in familial dysautonomia (an indicator of autonomic dysfunction) . J Pediatr . 1993;122:925–928
  34. Glickstein JS , Axelrod FB , Friedman D . Electrocardiographic repolarization abnormalities in familial dysautonomia (an indicator of cardiac autonomic dysfunction) . Pediatrics . 1998;102:3
  35. Gold-von Simson G , Rutkowski M , Berlin D , Axelrod FB . Pacemakers in patients with familial dysautonomia. A review of experience with 20 patients . Clin Auton Res . 2005;15:15–20
  36. Axelrod FB , Porges RF , Sein ME . Neonatal recognition of familial dysautonomia . J Pediatr . 1987;110:946–948
  37. Axelrod FB , Dancis J . Intrauterine growth retardation in familial dysautonomia . Am J Dis Child . 1973;125:379–380
  38. Geltzer AI , Gluck L , Talner NS , et al.  Familial dysautonomia (studies in a newborn infant) . N Engl J Med . 1964;271:436–440
  39. Perlman M , Benady S , Saggi E . Neonatal diagnosis of familial dysautonomia . Pediatrics . 1979;63:238–241
  40. Axelrod FB , Hilz MJ . Familial dysautonomia . In:  Appenzeller O editors. Handbook of clinical neurology. Vol. 75. The autonomic nervous system, part II, dysfunctions . London: Elsevier Science BV; 2000;p. 143–160
  41. Axelrod FB , Gouge TH , Ginsburg HB , Bangaru BS , Hazzi C . Fundoplication and gastrostomy in familial dysautonomia . J Pediatr . 1991;11:8
  42. Zaenglein AL , Chang MW , Meehan SA , Axelrod FB , Orlow SJ . Extensive Riga-Fede disease of the lip and tongue . J Am Acad Dermatol . 2002;47:445–447
  43. Axelrod FB , Maayan C . Familial dysautonomia . In:  Burg FD ,  Ingelfinger JR ,  Polin RA , et al. editor. Gellis and Kagen’s current pediatric therapy . 17th edition. Philadelphia (PA): WB Saunders; 2002;p. 437–441
  44. Axelrod FB . Familial dysautonomia (a review of the current pharmacological treatments) . Exp Opin Pharmocother . 2005;6:561–567
  45. Applegate KE , Sargent SK . Spontaneous colonic ischemia in a patient with Riley-Day syndrome . Pediatr Radiol . 1995;25:312–313
  46. Axelrod FB , Maayan C . Familial dysautonomia . In:  Chernick V ,  Boat TF editor. Kendig’s disorders of the respiratory tract in children . 6th edition. Philadelphia (PA): WB Saunders; 1998;p. 1103–1106
  47. Edelman NH , Cherniack NS , Lahiri S , Richards E , Fishman AP . The effects of abnormal sympathetic nervous function upon the ventilatory response to hypoxia . J Clin Invest . 1970;41:1153–1165
  48. Halpern H , Hochberg I , Rees N . Speech and hearing characteristics in familial dysautonomia . J Speech Hear Res . 1967;10:361–366
  49. Welton W , Clayson D , Axelrod FB , Levine DB . Intellectual development and familial dysautonomia . Pediatrics . 1979;63:708–712
  50. Clayson D , Welton W , Axelrod FB . Personality development and familial dysautonomia . Pediatrics . 1980;65:269–274
  51. Sklar CA , Rothberg S , Sein ME , Axelrod FB , David R . Neuroregulation of the growth hormone somatomedin C axis in familial dysautonomia . 1989; Abstract Third Joint Meeting of the ESPE/LWPES, Jerusalem, Israel
  52. Kamboj M , Axelrod FB , David R , Geffner ME , Novogroder M , Oberfield SE , et al.  Growth hormone treatment in children with familial dysautonomia . J Pediatr . 2003;144:63–67
  53. Sak HG , Smith AA , Dancis J . Psychometric evaluation of children with familial dysautonomia . Am J Psychiatr . 1967;124:136–141
  54. Becker B , Berger K , Chaikin A , Giarraffa P , Axelrod FB . Assessing efficacy of high-frequency chest wall oscillation (HFCWO) in patients with familial dysautonomia . Chest . 2005; (in press).
  55. Tutaj M , Marthol H , Berlin D , Brown CM , Axelrod FB , Hilz MJ . Effect of physical countermaneuvers on orthostatic hypotension in familial dysautonomia . J Neurol . 2005; (in press).
  56. Rutkowski M , Axelrod FB , Danilowicz D . Transient third-degree atrioventricular block in a 4-year-old-child with familial dysautonomia . Pediatr Cardiol . 1992;13:184–186
  57. Yaslow W , Becker MH , Bartels J , Thompson WL . Orthopaedic defects in familial dysautonomia . J Bone Joint Surg . 1971;53A:1541–1550
  58. Hayek S , Laplaza J , Axelrod FB , Burke SW . Spinal deformity in familial dysautonomia (prevalence and results of brace management) . J Bone Joint Surg (Am) . 2000;82:1558–1562
  59. Bar-On E , Floman Y , Sagiv S , Katz K , Pollak RD , Maayan C . Orthopaedic manifestations of familial dysautonomia . J Bone Joint Surg . 2000;82A:1563–1570
  60. Rubery PT , Spielman JH , Hester P , Axelrod FB , Burke SW , Levine DB . Scoliosis in familial dysautonomia . J Bone Joint Surg . 1995;77:1362–1369
  61. Maayan C , Bar-On E , Foldes AJ , Gesundheit B , Pollak RD . Bone mineral density and metabolism in familial dysautonomia . Osteoporos Int . 2002;13: 429–3
  62. Laplaza J , Turajane T , Axelrod FB , Burke SW . Non-spinal orthopaedic problems in familial dysautonomia . J Pediatr Orthoped . 2001;21:229–232
  63. Mitnick J , Axelrod FB , Genieser N , Becker M . Aseptic necrosis in familial dysautonomia . Radiology . 1982;142:89–91
  64. Gold-von Simson G, Kohn B, Axelrod FB. Osteoporosis and osteopenia in children with autonomic dysfunction: a review of 36 patients with familial dysautonomia. Poster presentation, Joseph P. Dancis Research Day, NYU School of Medicine, New York, New York, 2005.
  65. Maayan C , Sela S , Axelrod FB , Kidron D , Hochner-Celnikier D . Gynecological aspects of female familial dysautonomia . Isr Med Assoc J . 2000;2:679–683
  66. Axelrod FB , Glickstein JS , Weider J , Gluck MC , Friedman D . The effects of postural change and exercise on renal haemodynamics in familial dysautonomia . Clin Auton Res . 1993;3:195–200
  67. Axelrod FB , D’Amico R . Familial dysautonomia . In:  Fraunfelder FT ,  Roy FH editor. Current ocular therapy . 4th edition. Philadelphia: WB Saunders; 1995;p. 413–415
  68. Rieber JM , Cohen J , Janeck EM , Axelrod FB . High incidence of acute pancreatitis in patients with familial dysautonomia. Abstract for American College of Gastroenterology . Am J Gastroenterol . 2000; September
  69. Axelrod FB , Donnenfeld R , Danziger F , Turndorf H . Anesthesia in familial dysautonomia . Anesthesiology . 1988;68:631–635
  70. Anderson SL , Qiu J , Rubin BY . Tocotrienols induce IKBKAP expression (a possible therapy for familial dysautonomia) . Biochem Biophys Res Commun . 2003;306:303–309
  71. Anderson SL , Qiu J , Rubin BY . EGCG corrects aberrant splicing of IKBKAP mRNA in cells from patients with familial dysautonomia . Biochem Biophys Res Commun . 2003;310(2):627–633
  72. Slaugenhaupt SA , Mull J , Leyne M , et al.  Rescue of a human mRNA splicing defect by the plant cytokinin kinetin . Hum Mol Genet . 2004;0:461–470

PII: S1538-5442(05)00167-7

doi: 10.1016/j.cppeds.2005.12.001

Current Problems in Pediatric and Adolescent Health Care
Volume 36, Issue 6 , Pages 218-237 , July 2006

Article Tools

* Image Usage & Resolution