Primary Enteric Neuropathies Underlying Gastrointestinal Motor Dysfunction

References

• Furness JB, Costa M The enteric nervous system. Edinburgh: Churchill Livingstone; 1987.
   Google Scholar
• Gershon MD, Kirchgessner AL, Wade PR. Functional anatomy of the enteric nervous system. In: Alpers DH, editor. Physiology of the gastrointestinal tract. Vol. 1. New York: Raven Press; 1994. p. 381–422.
   Google Scholar
• Furness JB, Young HM, Pompolo S, Bornstein JC, Kunze WA, McConalogue K. Plurichemical transmission and chemical coding of neurons in the digestive tract. Gastroenterology 1995; 108:554–63.
   PubMed Web of Science ®Google Scholar
• Furness JB, Bornstein JC. The enteric nervous system and its extrinsic connections. In: Yamada T, editor. Textbook of Gastroentrology. Vol. 1. New York: Lippincott; 1991. p. 2–24.
   Google Scholar
• Giaroni C, De Ponti F, Cosentino M, Lecchini S, Frigo GM. Plasticity in the enteric nervous system. Gastroenterology 1999;1170:1438–58.
   Web of Science ®Google Scholar
• Goyal RK, Hirano I. The enteric nervous system. N Engl J Med 1996;25:1106–5.
   Web of Science ®Google Scholar
• Stanghellini V, De Giorgio R, Corinaldesi R. Neural control of intestinal motility. In: Barbara L, Corinaldesi R, Gizzi G, Stanghellini V, editors. Chronic constipation. London: WB Saunders; 1996. p. 51–64.
   Google Scholar
• Collins SM. The immunomodulation of enteric neuromuscular function: implications for motility and inflammatory disorders. Gastroenterology 1996;111:1683–9.
   PubMed Web of Science ®Google Scholar
• Huizinga JD, Thuneberg L, Vanderwinden JM, Rumessen JJ. Interstitial cells of Cajal as targets for pharmacological intervention in gastrointestinal motor disorders. Trends Pharmacol Sci 1997;18:393–403.
   PubMed Web of Science ®Google Scholar
• Krishnamurthy S, Schuffler MD. Pathology of neuromuscular disorders of the small intestine and colon. Gastroenterology 1987;93:610–39.
   PubMed Web of Science ®Google Scholar
• Wester T, O’Briain DS, Puri P. Notable postnatal alterations in the myenteric plexus of normal human bowel. Gut 1999;44:666–74.
   PubMed Web of Science ®Google Scholar
• Gabella G. Fall in the number of myenteric neurons in aging guinea-pigs. Gastroenterology 1989;96:1487–93.
   PubMed Web of Science ®Google Scholar
• Clouse RE, Diamant NE. Motor physiology and motor disorders of the esophagus. In: Feldman M, Sleisenger MH, Scharschmidt BF, editors. Sleisenger & Fordtran’s gastrointestinal and liver disease. 6th ed. Philadelphia: WB Saunders; 1998. p. 467–97.
   Google Scholar
• Robertson CS, Martin BA, Atkinson M. Varicella zoster virus DNA in the oesophageal myenteric plexus in achalasia. Gut 1993;34:299–302.
   Google Scholar
• Singaram C, Sweet MA, Belcaster GM, Hefle SL, Kalloo AN, Pasricha J. A novel autoantibody exists in patients with esophageal achalasia [abstract]. Gastroenterology 1994;106: A566.
   Web of Science ®Google Scholar
• Verne GN, Sallustio JE, Eaker EY. Anti-myenteric neuronal antibodies in patients with achalasia: a prospective study [abstract]. Gastroenterology 1995;108:A705.
   Google Scholar
• Howe S, Eaker EY, Sallustio JE, et al. Antimyenteric neuronal antibodies in scleroderma. J Clin Invest 1994;94:761–70.
   PubMed Web of Science ®Google Scholar
• Lennon VA, Sas DF, Busk MF, Scheithauer B, Malagelada J-R, Camilleri M, et al. Enteric neuronal autoantibodies in pseudoobstruction with small-cell lung carcinoma. Gastroenterology 1991;100:137–42.
   Google Scholar
• Stuckey BG, Mastaglia FL, Reed WD, Pullan PT. Glucocorticoid insufficiency, achalasia, alacrima with autonomic motor neuropathy. Ann Intern Med 1987;106:61–3.
   PubMed Web of Science ®Google Scholar
• Murphy MS, Gardner-Medwin D, Eastham EJ. Achalasia of the cardia associated with hereditary cerebellar ataxia. Am J Gastroenterol 1989;84:1329–30.
   PubMed Web of Science ®Google Scholar
• Monning PJ. Familial achalasia in children. Ann Thor Surg 1990;49:1019–22.
   PubMed Web of Science ®Google Scholar
• Csendes A, Smok G, Braghetto I, Gonzalez P, Henriquez A, Csendes P, et al. Histological studies of Auerbach’s plexuses of the oesophagus, stomach, jejunum, and colon in patients with achalasia of the oesophagus: correlation with gastric acid secretion, presence of parietal cells and gastric emptying of solids. Gut 1992;33:150–4.
   PubMed Web of Science ®Google Scholar
• Singaram C, Koch J, Gaumnitz EA, Goyal RK, Sengupta A. Nature of neuronal loss in human achalasia [abstract]. Gastroenterology 1996;110:A259.
   Google Scholar
• Mearin F, Mourelle M, Guarner F, Salas A, Riveros-Morenos V, Moncada S, et al. Patients with achalasia lack nitric oxide synthase in the gastro-esophageal junction. Eur J Clin Invest 1993;23:724–8.
   Google Scholar
• Holloway RH, Dodds WJ, Helm JF, Hogan WJ, Dent J, Arndorfer RC. Integrity of cholinergic innervation to the lower esophageal sphincter in achalasia. Gastroenterology 1986;90: 924–9.
   PubMed Web of Science ®Google Scholar
• Konturek JW, Thor P, Lukaszyk A, Gabryelewicz A, Konturek SJ, Domschke W. Endogenous nitric oxide in the control of esophageal motility in humans. J Physiol Pharmacol 1997;48: 201–9.
   PubMed Web of Science ®Google Scholar
• Annese V, Basciani M, Perri F, Lombardi G, Frusciante V, Simone P, et al. Controlled trial of botulinum toxin injection versus placebo and pneumatic dilatation in achalasia. Gastroenterology 1996;111:1418–24.
   PubMed Web of Science ®Google Scholar
• De Giorgio R, Di Simone MP, Stanghellini V, Barbara G, Tonini M, Salvioli B, et al. Esophageal and gastric nitric oxide synthesizing innervation in primary achalasia. Am J Gastroenterol 1999;94:2357–62.
   PubMed Web of Science ®Google Scholar
• Tonini M, De Giorgio R, De Ponti F, Sternini C, Dionigi P, Stanghellini V, et al. Role of nitric oxide- and vasoactive intestinal polypeptide-containing neurones in human gastric fundus strip relaxations. Br J Pharmacol. In press 1999.
   Google Scholar
• Mearin F, Papo M, Malagelada J-R. Impaired gastric relaxation in patients with achalasia. Gut 1995;36:363–8.
   Google Scholar
• Verhagen MATM, Samson M, Smout AJPM. Gastric myoelec- trical and antroduodenal motor activity in patients with achalasia. Neurogastroenterol Motil 1998;10:211–8.
   Google Scholar
• Cassella RR, Brown AL Jr, Sayre GP, Ellis FH Jr. Achalasia of the esophagus: pathologic and etiologic considerations. Ann Surg 1964;160:474–85.
   PubMed Web of Science ®Google Scholar
• Vanderwinden J-M, Mailleux P, Schiffmann SN, Vanderhaegen J-J, De Laet M-H. Nitric oxide synthase activity in infantile hypertrophic pyloric stenosis. N Engl J Med 1992;327:511–5.
   Google Scholar
• Huang PL, Dawson TM, Bredt DS, Snyder SH, Fishman MC. Targeted disruption of the neuronal nitric oxide synthase gene. Cell 1993;75:1273–86.
   Google Scholar
• Stanghellini V, Corinaldesi R, Barbara L. Pseudo-obstruction syndromes. Ballieres Clin Gastroenterol 1988;2:225–54.
   PubMed Web of Science ®Google Scholar
• Camilleri M, Phillips SF. Disorders of small intestinal motility. Gastroenterol Clin North Am 1989;18:405–24.
   PubMed Web of Science ®Google Scholar
• Hall KE, Wiley JW. Neural injury, repair and adaptation in the GI tract. I. New insights into neuronal injury: a cautionary tale. Am J Physiol 1998;274:G978–83.
   Google Scholar
• De Giorgio R, Santini D, Ceccarelli C, Zanelli M, Vezzadini C, Cogliandro L, et al. Defective expression of Bcl-2 in the enteric nervous system (ENS): a new potentially useful neuropathological marker for severe functional bowel disorders [abstract]. Ital J Gastroenterol 1996;28 Suppl 2:100.
   Google Scholar
• Hockenbery D, Nunez G, Milliman C, Schreiber RD, Korsmeyer SJ. Bcl-2 is an inner mitochondrial membrane protein that blocks programmed cell death. Nature 1990;348: 334–6.
   Google Scholar
• Zhong Lt, Sarafian T, Kane DJ, Charles AC, Mah SP, Edwards RH, et al. Bcl-2 inhibits death of central neural cells induced by multiple agents. Proc Natl Acad Sci USA 1993;90: 4533–7.
   Google Scholar
• Palo J, Haltia M, Carpenter S, Karpati G, Mushynski W. Neurofilament subunit-related proteins in neuronal intranuclear inclusion. Ann Neurol 1984;15:316–21.
   Google Scholar
• Monoz-Garcia D, Ludwin SK. Adult-onset neuronal intranuclear hyaline inclusion disease. Neurology 1986;36:785–90.
   Google Scholar
• Cockel R, Hill EE, Rushton DI, Smith B, Hawkins CF. Familial steatorrhoea with calcification of the basal ganglia and mental retardation. Q J Med 1973;168:771–83.
   Google Scholar
• Roy AD, Bharucha H, Nevin NC, Odling-Smee GW. Idiopathic intestinal pseudo-obstruction: a familial visceral neuropathy. Clin Genet 1980;18:291–7.
   Google Scholar
• Mayer EA, Schuffler MD, Rotter JI, Hanna P, Mogard M. Familial visceral neuropathy with autosomal dominant transmission. Gastroenterology 1986;91:1528–35.
   Google Scholar
• Auricchio A, Brancolini V, Cesari G, Milla PJ, Smith VV, Devoto M, et al. The locus for a novel syndromic form of neuronal intestinal pseudoobstruction maps to Xq28. Am J Hum Genet 1996;58:743–8.
   PubMed Web of Science ®Google Scholar
• Meneghelli UG. Chagas’ disease: a model of denervation in the study of digestive tract motility. Braz J Med Biol Res 1985; 18:255–64.
   PubMed Web of Science ®Google Scholar
• Sonsino E, Mouy R, Foucaud P, Sezard JP, Aigrain Y, Bocquet L, et al. Intestinal pseudo-obstruction related to cytomegalovirus infection of the myenteric plexus. N Engl J Med 1984;311: 196–7.
   PubMed Web of Science ®Google Scholar
• Debinski HS, Kamm MA, Talbot IC, Khan G, Kangro HO, Jeffries DJ. DNA viruses in the pathogenesis of sporadic chronic idiopathic intestinal pseudo-obstruction. Gut 1997;41:100–6.
   PubMed Web of Science ®Google Scholar
• Sodhi N, Camilleri M, Camoriano JK, Low PA, Fealey RD, Perry MC. Autonomic function and motility in intestinal pseudo-obstruction caused by paraneoplastic syndrome. Dig Dis Sci 1989;34:1937–42.
   PubMed Web of Science ®Google Scholar
• Jean WC, Dalmau J, Ho A, Posner JB. Analysis of the IgG subclass distribution and inflammatory infiltrates in patients with anti-hu-associated paraneoplastic encephalomyelitis. Neurology 1994;44:140–7.
   PubMed Web of Science ®Google Scholar
• Altermatt HJ, Rodriguez M, Scheithauer BW, Lennon VA. Paraneoplastic anti-Purkinje and type 1 antineuronal nuclear autoantibodies bind selectively to central, peripheral and autonomic nervous system cells. Lab Invest 1991;65:412–20.
   PubMed Web of Science ®Google Scholar
• Caras SD, McCallum RW, Brashear HR, Smith TK. The effect of human antineuronal antibodies on the ascending excitatory reflex and peristalsis in isolated guinea pig ileum: ‘is the paraneoplastic syndrome a motor neuron disorder?’ [abstract]. Gastroenterology 1996;110:A643.
   PubMed Web of Science ®Google Scholar
• De Giorgio R, Bassotti G, Stanghellini V, Barbara G, Tazzari PL, Santini D, et al. Clinical, morpho-functional and immunological features of idiopathic myenteric ganglionitis [abstract]. Gastroenterology 1996;110:A655.
   PubMed Web of Science ®Google Scholar
• Smith VV, Gregson N, Foggensteiner L, Neale G, Milla PJ. Acquired intestinal aganglionosis and circulating autoantibodies without neoplasia or other neural involvement. Gastroenterology 1997;112:1366–71.
   Google Scholar
• Krishnamurthy S, Schuffler MD, Belic L, Schweid A. An inflammatory axonopathy of the myenteric plexus causing rapidly progressive intestinal pseudoobstruction. Gastroenterology 1986;90:754–8.
   PubMed Web of Science ®Google Scholar
• Meier-Ruge W. Hirschsprung’s disease: its etiology, pathogenesis and differential diagnosis. Curr Top Pathol 1974;59: 131–79.
   PubMedGoogle Scholar
• Meier-Ruge W. Epidemiology of congenital innervation defects of the distal colon. Virch Arch Pathol Anat 1992;420:171–7.
   Web of Science ®Google Scholar
• Romeo G, Ronchetto P, Yin L, Barone V, Seri M, Ceccherini I, et al. Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung patients. Nature 1994; 367:377–8.
   PubMed Web of Science ®Google Scholar
• Edery P, Lyonnet S, Mulligan LM, Pelet A, Dow E, Abel L, et al. Mutations of the RET proto-oncogene in Hirschsprung’s disease. Nature 1994;367:378–80.
   PubMed Web of Science ®Google Scholar
• Schuchardt A, D’Agati V, Larson-Blomberg L, Costantini F, Pachnis V. Defects in the kidney and enteric nervous system of mice lacking the tyrosine kinase receptor Ret. Nature 1994; 367:380–3.
   PubMed Web of Science ®Google Scholar
• Hosoda K, Hammer RE, Richardson JA, Baynash AG, Cheung JC, Giaid A, et al. Targeted and natural (piebald-lethal) mutations of the endothelin-B receptor gene produce megacolon associated with spotted coat color in mice. Cell 1994;79:1267–76.
   PubMed Web of Science ®Google Scholar
• Puffenberg EG, Hosoda K, Washington SS, Nakao K, deWit D, Yanagisawa M, et al. A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung’s disease. Cell 1994; 79:1257–66.
   PubMed Web of Science ®Google Scholar
• Seri M, Yin L, Barone V, Bolino A, Celli I, Bocciardi L, et al. Frequency of RET mutations in long- and short-segment Hirschsprung disease. Hum Mutat 1997;9:243–9.
   PubMed Web of Science ®Google Scholar
• Buj-Bello A, Buchman VL, Horton A, Rosenthal A, Devies AM. GDNF is an age-specific factor for sensory and autonomic neurons. Neuron 1995;15:821–8.
   Google Scholar
• Trupp M, Arenas E, Fainzilber M, Nilsson AS, Sieber BA, Grigoriou M, et al. Functional receptor for GDNF encoded by the c-ret proto-oncogene. Nature 1996;381:785–9.
   PubMed Web of Science ®Google Scholar
• Durbec P, Marcos-Gutierrez CV, Kilkenny C, Grigoriou M, Wartiowaara K, Suvanto P, et al. GDNF signalling through the Ret receptor tyrosine kinase. Nature 1996;381:789–93.
   PubMed Web of Science ®Google Scholar
• Sanchez MP, Silos-Santiago I, Frisen J, He B, Lira SA, Barbacid M. Renal agenesis and the absence of enteric neurons in mice lacking GDNF. Nature 1996;382:70–3.
   PubMed Web of Science ®Google Scholar
• Mulligan LM, Eng C, Healey CS, Ponder MA, Feldmann GL, Li P, et al. A de novo mutation of the RET proto-oncogene in a patient with MEN 2A. Human Mol Genet 1994;6:1007–8.
   Web of Science ®Google Scholar
• Hofstra RMW, Landsvater RM, Ceccherini I, Stulp RP, Stelwagen T, Luo Y, et al. A mutation in the RET protooncogene associated with multiple endocrine neoplasia type B and sporadic medullary thyroid carcinoma. Nature 1994;367: 375–6.
   PubMed Web of Science ®Google Scholar
• Baynash AG, Hosoda K, Giaid A. Interaction of endothelin-3 with the endothelin-B receptor is essential for development of neural crest-derived melanocytes and enteric neurons: missense mutation in endothelin-3 gene in lethal spotting mice. Cell 1994;79: 1277–85.
   Google Scholar
• Qualman SJ, Murray R. Aganglionosis and related disorders. Hum Pathol 1994;25:1141–9.
   PubMed Web of Science ®Google Scholar
• Faverdin C, Dornic C, Arhan P, Devroede G, Jehannin B, Revillon Y, et al. Quantitative analysis of anorectal pressures in Hirschsprung’s disease. Dis Colon Rectum 1989;24:422–7.
   Web of Science ®Google Scholar
• Vizi ES, Zséli J, Kontor E, Feher E, Verebélyi T. Characteristics of cholinergic neuroeffector transmission of ganglionic and aganglionic colon in Hirschsprung’s disease. Gut 1990;31:1046–50.
   PubMed Web of Science ®Google Scholar
• Vanderwindern JM, De Laet MH, Schiffman SN, Mailleux P, Lowenstein CJ, Snyder SH, et al. Nitric oxide synthase distribution in the enteric nervous system of Hirschsprung’s disease. Gastroenterology 1993;105:969–73.
   PubMed Web of Science ®Google Scholar
• Hryhorenko LM, Woskowska Z, Fox-Threlkeld JET. Nitric oxide (NO) inhibits release of acetylcholine from nerves of isolated circular muscle of the canine ileum: relationship to motility and release of nitric oxide. J Pharmacol Exp Ther 1994;271:918–26.
   Google Scholar
• Meier-Ruge WA, Brönnimann PB, Gambazzi F, Schmid PC, Schmidt CP, Stoss F. Histopathological criteria for intestinal neuronal dysplasia of the submucosal plexus. Virch Arch Pathol Anat 1995;426:549–56.
   PubMed Web of Science ®Google Scholar
• Lake BD. Intestinal neuronal dysplasia. Why does it occur in parts of Europe? Virch Arch Pathol Anat 1995;426:537–9.
   PubMed Web of Science ®Google Scholar
• Sacher P, Briner J, Hanimann B. Is neuronal intestinal dysplasia (NID) a primary disease or a secondary phenomenon? Eur J Pediatr Surg 1993;3:228–30.
   Google Scholar
• Krishnamurthy S, Schuffler MD, Rohrmann CA, Pope CE. Severe idiopathic constipation is associated with a distinctive abnormality of the colonic myenteric plexus. Gastroenterology 1985;88:26–34.
   PubMed Web of Science ®Google Scholar
• Schouten WR, ten Kate FJ, de Graaf EJ, Gilberts EC, Simons JL, Kluck P. Visceral neuropathy in slow transit constipation: an immunohistochemical investigation with monoclonal antibodies against neurofilament. Dis Colon Rectum 1993;36:1112–7.
   PubMed Web of Science ®Google Scholar
• Benson MJ, Kumar D, Roberts J, Martin JE, Swash M, Wingate DL, et al. Colonic neural and smooth muscle abnormalities in slow transit constipation (STC) [abstract]. Gastroenterology 1992;102:A424.
   PubMed Web of Science ®Google Scholar
• Park HJ, Kamm MA, Abbasi AM, Talbot IC. Immunohistochemical study of the colonic muscle and innervation in idiopathic chronic constipation. Dis Colon Rectum 1995;38:509–13.
   PubMed Web of Science ®Google Scholar
• Koch TR, Carney JA, Go VLW. Idiopathic chronic constipation is associated with decreased colonic vasoactive intestinal peptide. Gastroenterology 1988;94:300–10.
   Google Scholar
• Lincoln J, Crowe R, Kamm MA, Burnstock G, Lennard-Jones JE. Serotonin and 5-hydroxyindolacetic acid are increased in the sigmoid colon in severe idiopathic constipation. Gastroenterology 1990;98: 1219–25.
   Google Scholar
• Cortesini C, Cianchi F, Infantino A, Lise M. Nitric oxide synthase and VIP distribution in enteric nervous system in idiopathic chronic constipation. Dig Dis Sci 1995;40:2450–5.
   PubMed Web of Science ®Google Scholar
• Porter AJ, Wattchow DA, Hunter A, Costa M. Abnormalities of nerve fibers in the circular muscle of patients with slow transit constipation. Int J Colorectal Dis 1998;13:208–16.
   PubMed Web of Science ®Google Scholar
• Ster HW, Colin-Jones DG. Melanosis coli: studies of the toxic effects of irritant purgatives. J Pathol 1975;115:199–205.
   PubMed Web of Science ®Google Scholar
• Riemann JF, Schmidt H, Zimmermann W. The fine structure of colonic submucosal nerves in patients with chronic laxative abuse. Scand J Gastroenterol 1980;15:761–8.
   Google Scholar
• Muller-Lissner S. What has happened to the cathartic colon? Gut 1996;89:486–8.
   Web of Science ®Google Scholar
• Riecken EO, Zeitz M, Emde C, Hopert R, Witzel L, Hintze R, et al. The effect of an antraquinone laxative on colonic nerve tissue: a controlled trial in constipated women. Z Gastroenterol 1990;28:660–4.
   PubMed Web of Science ®Google Scholar
• Edwards LL, Quigley EMM, Pfeiffer RF. Gastrointestinal dysfunction in Parkinson’s disease: frequency and pathophysiology. Neurology 1992;42:726–32.
   Google Scholar
• Kupsky WJ, Grimes MM, Sweeting J, Bertsch R, Cote LJ. Parkinson’s disease and megacolon: concentric hyaline inclusions (Lewy bodies) in enteric ganglion cells. Neurology 1987; 37:1253–5.
   Google Scholar
• Singaram C, Ashraf W, Gaumnitz EA, Torbey C, Sengupta A, Pfeiffer R, Quigley EMM. Dopaminergic defect of enteric nervous system in Parkinson’s disease patients with chronic constipation. Lancet 1995;346:861–4.
   Google Scholar