Decreased density of ganglia and neurons in the myenteric plexus of familial dysautonomia patients

Journal of the Neurological Sciences

Volumn 220, Issue 1-2, 2004, Pages 89-94

  Bar Shai, Amir ^a   Maayan, Channa ^a   Vromen, Amos ^a   Udassin, Raphael ^a   Nissan, Aviram ^a   Freund, Herbert R ^a   Hanani, Menachem ^a  

^a HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

Author keywords

Appendix; Enteric nervous system; Familial dysautonomia; Myenteric plexus; Neurons

Indexed keywords

REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE PHOSPHATE DEHYDROGENASE;

ACUTE APPENDICITIS; ADOLESCENT; APPENDIX; ARTICLE; BRAIN NERVE CELL; CELL DENSITY; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DYSAUTONOMIA; FEMALE; GANGLION; GASTROINTESTINAL MOTILITY; GASTROSTOMY; HISTOCHEMISTRY; HUMAN; HUMAN TISSUE; INFANT; MALE; MICROSCOPY; MORPHOLOGY; MYENTERIC PLEXUS; NERVOUS TISSUE; PRIORITY JOURNAL; STAINING; STOMACH FUNDOPLICATION;

ADOLESCENT; ADULT; APPENDIX; CELL COUNT; CHILD; CHILD, PRESCHOOL; DYSAUTONOMIA, FAMILIAL; FEMALE; GANGLIA; HISTOCYTOCHEMISTRY; HUMANS; INFANT; MALE; MYENTERIC PLEXUS; NADPH DEHYDROGENASE; NEURONS;

EID: 2442451296     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jns.2004.02.017     Document Type: Article

References (36)

1. Riley C.M., Day R.L., McGreenly D.L., Langford W.S. Central autonomic dysfunction with defective lacrimation. Report of five cases. Pediatrics. 3:1949;468-478
2. Axelrod F.B. Familial dysautonomia. Clinical autonomic disorders. 2nd ed. 1997;525-535 Lippincott-Raven, Philadelphia
3. Maayan C., Kaplan E., Shachar S.H., Peleg O., Godfrey S. Incidence of familial dysautonomia in Israel 1977-1981. Clin. Genet. 32:1987;106-108
4. Blumenfeld A., Slaugenhaupt S.A., Axelrod F.B., Lucente D.E., Maayan C., Liebert C.B., et al. Localization of the gene for familial dysautonomia on chromosome 9 and definition of DNA markers for genetic diagnosis. Nat. Genet. 4:1993;160-164
5. Slaugenhaupt S.A., Blumenfeld A., Gill P.S., Leyne M., Mull J., Cuanjungco M.P., et al. Tissue specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia. Am. J. Hum. Genet. 68:2001;598-604
6. Axelrod F.B., Iyer K., Fish I., Pearson J., Sein M.E., Spielholz N. Progressive sensory loss in familial dysautonomia. Pediatrics. 67:1981;517-522
7. Axelrod F.B. Familial dysautonomia and other congenital and sensory autonomic neuropathies. Blake I.B. Cell and molecular biology of neuronal development. 1984;331-340 Plenum, New York
8. Axelrod F.B., Pearson J. Congenital sensory neuropathies: diagnostic distinctions from familial dysautonomia. Am. J. Dis. Child. 138:1984;947-954
9. Pearson J., Pytel B.A., Grover-Johnson N., Axelrod F., Dancis J. Quantitative studies of dorsal root ganglia and neuropathologic observation on spinal cords of familial dysautonomia. J. Neurol. Sci. 35:1978;77-92
10. Pearson J., Pytel B.A. Quantitative studies of ciliary and sphenopalatine ganglia in familial dysautonomia. J. Neurol. Sci. 39:1978;123-130
11. Pearson J., Pytel B. Quantitative studies of sympathetic ganglia and spinal cord intermedio-lateral gray columns in familial dysautonomia. J. Neurol. Sci. 39:1978;47-59
12. Schwartz J.P., Breakefield X.O. Altered nerve growth factor in fibroblasts from patients with familial dysautonomia. Proc. Natl. Acad. Sci. U. S. A. 77:1980;1154-1158
13. Wrathall J.R. Reduced neurotrophic activity of fibroblasts from individuals with dysautonomia in cultures of newborn mouse sensory ganglion cells. Brain Res. 364:1986;23-29
14. Krausz Y., Maayan C., Faber J., Marciano R., Mogle P., Wynchank S. Scintigraphic evaluation of esophageal transit and gastric emptying in familial dysautonomia. Eur. J. Radiol. 18:1994;52-56
15. Brunt P.W., Mckusick V.A. Familial dysautonomia. A report of genetic and clinical studies with review of the literature. Medicine (Baltimore). 49:1970;343-374
16. Linde L.M., Westover J.L. Esophageal and gastric abnormalities in dysautonomia. Pediatrics. 29:1962;303-306
17. Axelrod F.B., Schneider K.M., Ament M.E., Kutin N.D., Fonkalsrud E.W. Gastroesophageal fundoplication and gastrostomy in familial dysautonomia. Ann. Surg. 195:1982;253-258
18. Ariel I., Wells T.R. Structural abnormalities of the myenteric (Auerbach's) plexus in familial dysautonomia (Riley Day syndrome) as demonstrated by flat-mount preparation of the esophagus and stomach. Pediatr. Pathol. 4:1985;89-99
19. Brown W.J., Beauchemin J.A., Linde L.M. A neuropathological study of familial dysautonomia (Riley Day syndrome) in siblings. J. Neurol. Neurosurg. Psychiatry. 27:1964;131-139
20. Fogelson M.H., Rorke L.B., Kaye R. Spinal cord changes in familial dysautonomia. Arch. Neurol. 17:1967;103-108
21. Solitare G.B., Cohen G.S. Peripheral autonomic nervous system lesions in congenital or familial dysautonomia (Riley Day syndrome). Neurology. 15:1965;321-327
22. Yatsu F., Zussman W. Familial dysautonomia (Riley-Day syndrome): case report with postmortem findings of a patient at age 31. Arch. Neurol. 10:1964;459-463
23. Leyne M., Mull J., Gill S.P., Cuanjungco M.P., Oddoux C., Blumenfeld A., et al. Identification of the first non-Jewish mutation in the IKBKAP gene causes familial dysautonomia. Am. J. Med. Genet. 118A:2003;305-308
24. Hanani M., Louzon V., Udassin R., Freund H.R., Karmeli F., Rachmilewitz D. Nitric oxide-containing nerves in bowel segments of patients with Hirschsprung's disease. J. Pediatr. Surg. 30:1995;818-822
25. Rolle U., Nemeth L., Puri P. Nitrergic innervation of the normal gut and in motility disorders of childhood. J. Pediatr. Surg. 37:2002;551-567
26. Goyal R.K., Hirano I. The enteric nervous system. N. Engl. J. Med. 334:1996;1106-1115
27. Hanani M. Multiple myenteric networks in the human appendix. Auton Neurosci. 110:2004;49-54
28. Wester T., O'Briain D.S., Puri P. Notable postnatal alterations in the myenteric plexus of normal human bowel. Gut. 44:1999;666-674
29. Krammer H.J., Zhang M., Kühnel W. Distribution of NADPH-diaphorase-positive neurons in the enteric nervous system of the human colon. Ann. Anat. 176:1994;137-141
30. Aguayo A.J., Nair C.P.V., Bray G.M. Peripheral nerve abnormalities in the Riley Day syndrome: finding in a sural nerve biopsy. Arch. Neurol. 24:1971;106-116
31. Pearson J., Dancis J., Axelrod F.B., Grover N. The sural nerve in familial dysautonomia. J. Neuropathol. Exp. Neurol. 34:1975;413-424
32. Vanderwiden J.M. Role of nitric oxide in gastrointestinal function and disease. Acta Gastroenterol. Belg. 57:1994;224-229
33. Furness J.B., Costa M. The enteric nervous system. 1987;1-290 Churchill Livingstone, London
34. Camilleri M. Enteric nervous system disorders: genetic and molecular insights for the neurogasroenterologist. Neurogastroenterol. Motil. 13:2001;277-295
35. Krishnamurthy S., Schuffler M.D. Pathology of neuromuscular disorders of the small intestine and colon. Gastroenterology. 93:1987;610-639
36. Nemeth L., Yoneda A., Kader M., Devaney D., Puri P. Three-dimensional morphology of gut innervation in total intestinal aganglionosis using whole-mount preparation. J. Pediatr. Surg. 36:2001;291-295