Familial mitochondrial intestinal pseudo-obstruction and neurogenic bladder

Journal of Child Neurology

Volumn 15, Issue 6, 2000, Pages 386-389

  Haftel, Lior T ^a   Lev, Dorit ^a   Barash, Varda ^b,c   Gutman, Aliza ^b,c   Bujanover, Yoram ^a   Lerman Sagie, Tally ^a  

^a WOLFSON MEDICAL CENTER   (Israel)

^b TEL AVIV UNIVERSITY   (Israel)

^c HEBREW UNIVERSITY OF JERUSALEM   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME C OXIDASE; MITOCHONDRIAL DNA;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; ENZYME DEFECT; FEMALE; GENE DELETION; GENE DUPLICATION; HUMAN; INTESTINE BIOPSY; INTESTINE PSEUDOOBSTRUCTION; JEW; MALE; NEUROGENIC BLADDER; PRIORITY JOURNAL; SCHOOL CHILD; SIBLING;

EID: 0034046469     PISSN: 08830738     EISSN: None     Source Type: Journal    
DOI: 10.1177/088307380001500606     Document Type: Article

References (35)

1. Milla PJ: Intestinal motility during ontogeny and intestinal pseudo-obstruction in children. Pediatr Clin North Am 1996;43:511-532.
2. Bardosi A, Creutzfeldt W, Dimauro S, et al: Myo-, neuro-, gastro-intestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-c-oxidase. Acta Neuropathol, 1987;74: 248-258.
3. Cervera R, Bruix J, Bayes A, et al: Chronic intestinal pseudo-obstruction and ophthalmoplegia in a patient with mitochondrial myopathy. Gut 1988;29:544-544.
4. Hirano M, Silvestri G, Blake DM, et al: Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Clinical, biochemical and genetic features of an autosomal recessive mitochondrial disorder. Neurology 1994;44:721-727.
5. Johns DR, Threlkeld AB, Miller NR, Hurko O: Multiple mitochondrial DNA deletions in myo-neuro-gastrointestinal encephalopathy syndrome. Am J Ophthalmol 1993;115:108-109.
6. Lauber J, Marsac C, Kadenbach B, Seibel P: Mutations in mitochondrial tRNA genes: A frequent cause of neuromuscular diseases. Nucleic Acids Res 1991;19:1993-1997.
7. Hirano M, Garcia-de-Yebenes J, Jones AC, et al: Mitochondrial gastrointestinal encephalomyopathy syndrome maps to chromosome 22q13.32-qter. Am J Hum Genet 1998;63:528-533.
8. Barrett TG, Bundey SE, Macleod AF: Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome. Lancet 1995;346:1458-1463.
9. Bundey SK, Poulton K, Whitewell H, et al: Mitochondrial abnormalities in the DIDMOAD syndrome. J Inherit Metab Dis 1992;15: 315-319.
10. Roetig A, Cormier V, Chatelain P, et al: Deletion of mitochondrial DNA in a case of early onset diabetes mellitus, optic atrophy and deafness. J Clin Invest 1993;91:1095-1098.
11. Polymeropoulos MH, Swift RG, Swift M: Linkage of the gene for Wolfram syndrome to markers on the short arm of chromosome 4. Nat Genet 1994;8:95-97.
12. Barrientos A, Volpini V, Casademont J, et al: A nuclear defect in the 4p16 region predisposes to multiple mitochondrial DNA deletions in families with Wolfram syndrome. J Clin Invest 1996;97: 1570-1576.
13. Collier DA, Barrett TG, Curtis D, et al: Linkage of Wolfram syndrome chromosome 4p16.1 and evidence for heterogeneity. Am J Hum Genet 1996;59:855-863.
14. Nishino I, Spinazzola A, Hirano M: Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. Science 1999;283:689-692.
15. Sherrat HS, Watmough MA, Johnson MA, Turnbull DM: Methods for study of normal and abnormal skeletal muscle mitochondria. Methods Biochem Anal 1988;33:243-335.
16. Sheu KF, Hu CW, Utter MF: Pyruvate dehydrogenase complex activity in normal and deficient fibroblasts. J Clin Invest 1981;67: 1463-1471.
17. Lowry OH, Rosenbrough NJ, Farr AL, Randall RJ: Protein measurement with folin phenol reagent. J Biol Chem 1951;193:265-275.
18. Zeviani M, Tiranti V, Piantadosi C: Mitochondrial disorders. Medicine 1998;77:59-72.
19. Zeviani M, Servidei S, Gellera C, et al: An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region. Nature 1989;339:309-311.
20. Shoffner JM, Lott MT, Voljavec AS, et al: Spontaneous Kearns-Sayre/chronic external ophthalmoplegia plus syndrome associated with a mitochondrial deletion: A slip-replication model and metabolic therapy. Proc Natl Acad Sci U S A 1989;86:7952-7956.
21. Anneren G, Meurling S, Oslen L: Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS), an autosomal recessive disorder: Clinical reports and review of the literature. Am J Med Genet 1991;41:251-254.
22. Young ID, McKeever PA, Brown LA, Lang GD. Prenatal diagnosis of the megacystis microcolon intestinal hypoperistalsis syndrome. J Med Genet 1989;26:403-406.
23. Glassman M, Spivak W, Mininberg D, Madara J: Chronic idiopathic intestinal pseudoobstruction: A commonly misdiagnosed disease in infants and children. Pediatrics 1989;83:603-608.
24. Alstead EM, Murphy MN, Flanagan AM, et al: Familial autonomic visceral myopathy with degeneration of muscularis mucusae. Clin Pathol 1988;41:424-429.
25. Barone V, Weber D, Luo Y, et al: Exclusion of linkage between RET and neuronal intestinal dysplasia type B. Gastroenterology 1987; 92:786-790.
26. Fadda B, Maier WA, Meier Ruge W, et al: Neuronale Intestinale Dysplasie: Eine kritische 10-Jahres-Analyse klinischer und bioptischer Diagnostik. Kinderchirurgie 1983;38:305-311.
27. Ionasescu V: Oculogastrointestinal muscular dystrophy. Am J Med Genet 1983;15:103-112.
28. Ionasescu V, Thompson SH, Aschenbrener C, et al: Late-onset oculogastrointestinal muscular dystrophy. Am J Med Genet 1984;18: 781-788.
29. Anuras S, Mitros FA, Nowak TV, et al: A familial visceral myopathy with external ophthalmoplegia and autosomal recessive transmission. Gastroenterology 1983;84:346-353.
30. Faber J, Fich A, Steinberg A, et al: Familial intestinal pseudo-obstruction dominated by a progressive neurologic disease at a young age. Gastroenterology 1987;92:786-790.
31. Schuffler MD, Bird TD, Sumi SM, Cook A: A familial neuronal disease presenting as intestinal pseudo-obstruction. Gastroenterology 1978;75:889-898.
32. Maldonado JE, Gregg JA, Green PA, Brown AL: Chronic idiopathic intestinal pseudo-obstruction. Am J Med 1970;49:203-212.
33. Li V, Hostein J, Romero BN, et al: Chronic intestinal pseudo-obstruction with myopathy and ophthalmoplegia - A muscular biochemical study of a mitochondrial disorder. Dig Dis Sci 1992; 37:456-463.
34. Lowski R, Davidson G, Wolman S: Familial visceral myopathy associated with a mitochondrial myopathy. Gut 1993;34:279-283.
35. Cormier-Daire V, Bonnefont JP, Rustin P, et al: Mitochondrial DNA rearrangement with onset as chronic diarrhea with villous atrophy. J Pediatr 1994;124:63-70.