Oculopharyngeal muscular dystrophy

Seminars in Neurology

Volumn 19, Issue 1, 1999, Pages 59-66

  Brais, Bernard ^a   Rouleau, Guy A ^b   Bouchard, Jean Pierre ^d   Fardeau, M ^c   Tomé, Fernando M S ^c  

^a CENTRE HOSPITALIER DE L UNIVERSITÉ DE MONTRÉAL   (Canada)

^b MONTREAL GENERAL HOSPITAL   (Canada)

^c PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^d Campus Notre Dame ^*

Author keywords

Muscular dystrophy; Oculopharyngeal; PABP2 gene; Polyalanine

Indexed keywords

ALANINE; BINDING PROTEIN;

ADULT; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL RECESSIVE DISORDER; CELL NUCLEUS INCLUSION BODY; CHROMOSOME 14Q; CRICOPHARYNGEUS MUSCLE; DYSPHAGIA; HUMAN; MUSCLE WEAKNESS; MYOTOMY; OCULOPHARYNGEAL MUSCULAR DYSTROPHY; PATHOPHYSIOLOGY; POLYADENYLATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PTOSIS; REVIEW; TRINUCLEOTIDE REPEAT;

EID: 0033060450     PISSN: 02718235     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2008-1040826     Document Type: Review

References (84)

1. Fuchs E. Ueber isolirte doppelseitige Ptosis. Arch Ophthalmol 1890;36:234-259
2. Dutil A. Note sur une forme de ptosis noncongénital et héréditaire. Prog Med 1892;16:401-403
3. Delord J. Sur une forme de ptosis noncongénital et héréditaire. Presse Med 1903;11:592
4. Taylor EW. Progressive vagus-glossopharyngeal paralysis with ptosis: A contribution to the group of family diseases. J Nerv Ment Dis 1915;42:129-139
5. Tomé FMS, Fardeau M. Oculopharyngeal muscular dystrophy. In: Engel AG, Franzini-Armstrong C, eds. Myology. New York: McGraw-Hill, 1994:1233-1245
6. Amyot R. Ptosis héréditaire familial et tardif des paupières supérieures. Pharyngoplégie également héréditaire et familiales concomitante. Union Med Can 1948;77:1287
7. Amyot R. Hereditary, familial and acquired ptosis of late onset. Can Med Assoc J 1948;59:434-438
8. Duquette P, Giard N. Hereditary ptosis of late onset: Early observations on oculopharyngeal muscular dystrophy in Quebec by Roma Amyot. Neuromusc Disord 1997;7:S12-S14
9. Noyes AP. A case of myastenia gravis with certain unusual features. Rhode Island Med J 1930;13:52-59
10. Victor M, Hayes R, Adams RD. Oculopharyngeal muscular dystrophy: A familial disease of late life characterized by dysphagia and progressive ptosis of the eyelids. N Engl J Med 1962;267: 1267-1272
11. Anonymous. Oculopharyngeal muscular dystrophy. BMJ 1963; 1:1106
12. Bouchard J-P. André Barbeau and the oculopharyngeal muscular dystrophy in French Canada and North America. Neuromusc Disord 1997;7:S5-S11
13. Barbeau A. La myopathie oculaire au Canada Français. Union Med Can 1965;94:1186-1187
14. Barbeau A. The syndrome of hereditary late onset ptosis and dysphagia in French Canada. In: Kuhn E, ed. Symposium Über progressive Muskeldystrophie. Berlin: Springer-Verlag, 1966: 102-109
15. Letendre J, Tétreault C, Barbeau A. Dystrophie musculaire oculopharyngienne. Montréal Med 1966;17:11-13
16. Barbeau A. Oculopharyngeal muscular dystrophy in French Canada. In: Brunette J-R, Barbeau A, eds. Progress in neuro-ophthalmology. Amsterdam: Excerpta Medica, 1969:3
17. Codère F. Oculopharyngeal muscular dystrophy. Can J Ophthalmol 1993;28:1-2
18. Molgat YM, Rodrigue D. Correction of blepharoptosis in oculopharyngeal muscular dystrophy: Review of 91 cases. Can J Ophthalmol 1993;28:11-14
19. Rodrigue D, Molgat YM. Surgical correction of blepharoptosis in oculopharyngeal muscular dystrophy. Neuromusc Disord 1997; 7:S82-S84
20. Castell JA, Castell DO, Duranceau CA, Topart P. Manometric characteristics of the pharynx, upper esophageal sphincter, esophagus, and lower esophageal sphincter in patients with oculopharyngeal muscular dystrophy. Dysphagia 1995;10: 22-26
21. Dayal VS, Freeman J. Cricopharyngeal myotomy for dysphagia in oculopharyngeal muscular dystrophy. Report of a case. Arch Otolaryngol 1976;102:115-116
22. Duranceau A, Lelendre J, Clermont RJ, Levesque HP, Barbeau A. Oropharyngeal dysphagia in patients with oculopharyngeal muscular dystrophy. Can J Surg 1978;21:326-329
23. Duranceau AC, Beauchamp G, Jamieson GG, Barbeau A. Oropharyngeal dysphagia and oculopharyngeal muscular dystrophy. Surg Clin North Am 1983;63:825-832
24. Duranceau A. Cricopharyngeal myotomy in the management of neurogenic and muscular dysphagia. Neuromusc Disord 1997;7:S85-S89
25. Mathieu J, Lapointe G, Brassard A, et al. A pilot study on upper oesophageal sphincter dilatation for the treatment of dysphagia in patients with oculopharyngeal muscular dystrophy. Neuromusc Disord 1997;7:S100-S104
26. Périé S, Eymard B, Laccourreye L, et al. Dysphagia in oculopharyngeal muscular dystrophy: A series of 22 French cases. Neuromusc Disord 1997;7:S96-S99
27. Tomé FMS, Fardeau M. Nuclear inclusions in oculopharyngeal muscular dystrophy. Acta Neuropathol 1980;49:85-87
28. Tomé FMS, Chateau D, Helbling-Leclerc A, Fardeau M. Morphological changes in muscle fibers in oculopharyngeal muscular dystrophy. Neuromusc Disord 1997;7:S63-S69
29. Coquet M, Vital C, Julien J. Presence of inclusion body myositis-like filaments in oculopharyngeal muscular dystrophy: Ultra-structural study of 10 cases. Neuropathol Appl Neurobiol 1990;16:393
30. Brais B, Bouchard JP, Xie YG, et al. A more severe form of oculopharyngeal muscular dystrophy is documented in a genetically proven homozygous patient. Neurology 1995;45:293P
31. Blumen SC, Sadeh M, Korczyn AD, et al. Inranuclear inclusions in oculopharyngeal muscular dystrophy among Bukhara Jews. Neurology 1996;46:1324-1328
32. Bouchard J-P, Gagné F. Tomé FMS, Brunet D. Nuclear inclusions in oculopharyngeal muscular dystrophy in Québec. Can J Neurol Sci 1989;16:446-450
33. Brais B, Xie Y-G, Sanson M, et al. The oculopharyngeal muscular dystrophy locus maps to the region of the cardiac α and β myosin heavy chain genes on chromosome 14q11.2-q13. Hum Mol Genet 1995;4:429-434
34. Porschke H, Kress W, Reichmann H, et al. Oculopharyngeal muscular dystrophy in a northern German family linked to chromosome 14q, and presenting carnitine deficiency. Neuromusc Disord 1997;7:S57-S62
35. Stajich JM, Gilchrist JM, Lennon F, et al. Confirmation of linkage of oculopharyngeal muscular dystrophy to chromosome 14q11-q13. Ann Neurol 1997;40:801-804
36. Stajich JM, Gilchrist JM, Lennon F, et al. Confirmation of linkage of oculopharyngeal muscular dystrophy to chromosome 14q11.2-q13 in American families suggests the existence of a second causal mutation Neuromusc Disord 1997;7:S75-S81
37. Teh BT, Sullivan AA, Farnebo F, et al. Oculopharyngeal muscular dystrophy; report and genetic studies of an Australian kindred. Clin Genet 1997;51:52-55
38. Brais B, Bouchard J-P, Ya-Gang X, et al. Using the full power of linkage analysis in 11 French Canadian families to fine map the oculopharyngeal muscle dystrophy gene. Neuromusc Disord 1997;7:S70-S75
39. Bouchard J-P, Marcoux S, Gosselin F, et al. A simple test for the detection of the dysphagia in members of families with oculopharyngeal muscular dystrophy (OPMD). Can J Neurol Sci 1992;19:296-297
40. Brais B, Bouchard J-P, Xie Y-G, et al. Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy. Nature Genet 1998;18:164-167
41. Bienroth S, Keller W, Wahle E. Assembly of a processive messenger RNA polyadenylation complex. EMBO J 1993;12:585-594
42. Krause S, Fakan S, Weis K, Wahle E. Immunodetection of poly(A) binding protein II in cell nucleus. Exp Cell Res 1994;214: 75-82
43. Nemeth A, Krause S, Blank D, et al. Isolation of genomic and cDNA clones encoding bovine poly(A) binding protein II. Nucleic Acids Res 1995;23:4034-4041
44. Wahle E. A novel poly(A)-binding protein acts as a specificity factor in the second phase of messenger RNA polyadenylation. Cell 1991;66:759-768
45. Wahle E, Lustig A, Jenö P, Maurer P. Mammalian Poly(A)-binding protein II: Physical properties and binding to polynucleotides. J Biol Chem 1993;268:2937-2945
46. Paulson HL, Fischbeck KH. Trinuleotide repeats in neurologic disorders. Annu Rev Neurosci 1996;19:79-107
47. 1A-voltage-dependem calcium channel. Nature Genet 1997;15:62-69
48. Matsuyama Z, Kawakami H, Maruyama H, et al. Molecular features of the CAG repeats of spinocerebellar ataxia 6 (SCA6). Hum Mol Genet 1997;6:1283-1287
49. Ishikawa K, Tanaka H, Saito M, et al. Japanese families with autosomal dominant pure cerebellar ataxia map to chromosome 19p13.1-13.2 and are strongly associated with mild CAG expansions in spinocerebellar ataxia type 6 gene in chromosome 19p13.1. Am J Hum Genet 1997;61:336-346
50. 1A-voltage-dependent calcium channel gene. Hum Mol Genet 1997;6:1289-1293
51. Gacy AM, Goellner G, Juranic N, et al. Trinucleotide repeats that expand in human disease form hairpin structure in vitro. Cell 1995;81:533-540
52. Wells DR. Molecular basis of genetic instability of triplet repeats. J Biol Chem 1996;271:2875-2878
53. Ohshima K, Wells RD. Hairpin formation during DNA synthesis primer realignment in vitro in triplet repeat sequences from human hereditary disease genes. J Biol Chem 1997;272: 16798-16806
54. Richards RI, Sutherland GR. Dynamic mutation: Possible mechanisms and significance in human sisease. Trends Biol Sci 1997; 22:432-436
55. Green H. Human genetic diseases due to codon reiteration: Relationship to an evolutionary mechanism. Cell 1993;24:955-956
56. Bouchard J-P, Brais B, Brunet D, et al. Recent studies on oculopharyngeal muscular dystrophy in Quebec. Neuromusc Disord 1997;7:S22-S29
57. Bouchard J-P, Brais B, Tom FMS. Oculopharyngeal muscular dystrophy. In: Emery AEH, ed. Neuromuscular disorders: Clinical and molecular genetics. Chichester: John Wiley & Sons, 1998: 157-179
58. Fried K, Arlozorov A, Spira R. Autosomal recessive oculopharyngeal muscular dystrophy. J Med Genet 1975;12:416-418
59. Little BW, Perl DP. Oculopharyngeal muscular dystrophy. An autopsied case from the French-Canadian kindred. J Neurol Sci 1982;53:145-158
60. Mahdavi V, Chambers AP, Nadal-Ginard B. Cardiac α-and β-myosin heavy chain genes are organized in tandem. Proc Natl Acad Sci USA 1984;81:2626-2670
61. Lichter P, Umeda PK, Levin JE, Vosberg H-P. Partial characterization of the human β-myosin heavy-chain gene which is expressed in heart and skeletal muscle. Eur J Biochem 1986;160:419-426
62. Saez LJ, Leinwand LA. Characterization of diverse forms of myosin heavy chain expressed in adult human skeletal muscle. Nucleic Acids Res 1986;14:2951-2969
63. Cha J-HJ, Dure LSI. Trinucleotide repeats in neurologic diseases: An hypothesis concerning the pathogenesis of Huntington's disease. Kennedy's disease, and spinocerebellar ataxia type 1. Life Sci 1994;54:1459-1464
64. Burright EN, Clark HB, Servadio A, et al. SCA1 transgenic mice: A model for neurodegeneration caused by an expanded CAG repeat. Cell 1995;82:937-948
65. Davies SW, Turmaine M, Cozens BA, et al. Formation of neuronal intranuclear inclusions underlies the neurological dysfunctions in mice transgenic for the HD mutation. Cell 1997;90:537-548
66. Mangiarini L, Sathasivam K, Seller M, et al. Exon 1 of the HD gene with an expanded CAG repeat is sufficient to cause a progressive neurological phenotype in transgenic mice. Cell 1996; 87:493-506
67. Ordway JM, Tallaksen-Greene S, Gutekunst C-A, et al. Ectopically expressed CAG repeats cause inranuclear inclusions and a preogressive late onset neurological phenotype in mouse. Cell 1997;91:753-763
68. Paulson HL, Perez MK, Trottier Y, et al. Intranuclear inclusions of expanded polyglutamine protein in spinocerebellar ataxia type 3. Neuron 1997;19:333-344
69. Forood B, Pérez-Payá E, Houghten RA, Blondelle SE. Formation of an extremely stable polyalanine β-sheet macromolecule. Biochem Biophys Res Commun 1995;211:7-13
70. Yang A-S, Honig B. Free energy determinants of secondary structure formation. II. Antiparallel β-sheets. J Mol Biol 1995;252: 366-376
71. Simmons AH, Michal CA, Jelinski LW. Molecular orientation and two-component nature of the crystalline fraction of spider dragline silk. Science 1996;271:84-87
72. Blondelle SE, Forood B, Houghten RA. Pérez-Payá E. Polyalanine-based peptides as models for self-associated β-pleated-sheet complexes. Biochemistry 1997;36:8393-8400
73. Prusiner SB. Prion diseases and the BSE crisis. Science 1997;278:245-251
74. Stott K, Blackburn JM, Burler PJG, Perutz MF. Incorporation of glutamine repeats makes protein oligomerize: Implications for neurodegenerative diseases. Proc Natl Acad Sci USA 1995;92: 6509-6513
75. Scherzinger E, Lurz R, Turmaine M, et al. Huntingtin-encoded polyglutamine expansions form amyloid-like protein aggregates in vitro and in vivo. Cell 1997;90:549-558
76. Onodera O, Roses AD, Tsuji S, et al. Toxicity of expanded polyglutamine-domain proteins in Escherichia coli. FEBS Lett 1996;399:135-139
77. DiFiglia M, Sapp E, Chase KO, et al. Huntington is a cytoplasmic protein associated with vesicles in human and rat brain neurons. Neuron 1995;14:1075-1081
78. Skinner PJ, Koshy BT, Cummings CJ. et al. Ataxin-1 with an expanded glutamine tract alters nuclear matrix-associated structures. Nature 1997;389:971-974
79. Jackson M, Gentleman S, Lennox G, et al. The cortical neuritic pathology of Huntington's disease. Neuropathol Appl Neurobiol 1995;21:18-26
80. Igarashi S, Koide R, Shimohata T, et al. Suppression of aggregate fromation and apoptosis by transglutaminase inhibitors in cells expressing truncated DRPLA protein with an expanded polyglutamine stretch. Nature Genet 1998;18:111-117
81. Duranceau A, Forand MD, Fauteux JP. Surgery in oculopharyngeal muscular dystrophy. Am J Surg 1980;139:33-39
82. Akarsu AN, Stoilov I, Yilmaz E, et al. Genomic structure of HOXD13 gene: A nine polyalanine duplication causes synpolydactyly in two unrelated families. Hum Mol Genet 1996;5: 945-952
83. Muragaki Y, Mundlos S, Upton J, Olsen BR. Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13. Science 1996;272:548-551
84. Mundlos S, Otto F, Mundlos C, et al. Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia. Cell 1997;89:773-779