Fukuyama congenital muscular dystrophy: Clinical aspects

Translational Research in Muscular Dystrophy

Volumn , Issue , 2016, Pages 1-19

  Ishigaki, Keiko ^a  

^a TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

Author keywords

Cobblestone lissencephaly; Fukutin; Rhabdomyolysis; Dystroglycanopathy

Indexed keywords

EID: 85018227336     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1007/978-4-431-55678-7_1     Document Type: Chapter

References (48)

1. Fukuyama Y, Kawazura M, Hamura H (1960) A peculiar form of congenital muscular dystrophy. Report of fifteen cases. Paedoatr Univ Tokyo 4: 5-8
2. Osawa M, Sumida S, Suzuki N et al (1997) Fukuyama type congenital muscular dystrophy. In: Fukuyama Y, Osawa M, Saito K (eds) Congenital muscular dystrophies. Elsevier Science, Amsterdam, pp 31-68
3. Watanabe M, Kobayashi K, Jin F et al (2005) Founder SVA retrotransposal insertion in Fukuyama-type congenital muscular dystrophy and its origin in Japanese and Northeast Asian populations. Am J Med Genet A 138: 344-348
4. Toda T, Miyake M, Kobayashi K et al (1996) Linkage-disequilibrium mapping narrows the Fukuyama-type congenital muscular dystrophy (FCMD) candidate region to <100 kb. Am J Hum Genet 59: 1313-1320
5. Kobayashi K, Nakahori Y, Miyake M et al (1998) An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy. Nature 394: 388-392
6. Kondo-Iida E, Kobayashi K, Watanabe M et al (1999) Novel mutations and genotypephenotype relationships in 107 families with Fukuyama-type congenital muscular dystrophy (FCMD). Hum Mol Genet 8: 2303-2309
7. Saito K, Osawa M, Wang ZP et al (2000) Haplotype-phenotype correlation in Fukuyama congenital muscular dystrophy. Am J Med Genet 29: 184-190
8. Colombo R, Bignamini AA, Carobene A et al (2000) Age and origin of the FCMD 3-0-untranslated-region retrotransposal insertion mutation causing Fukuyama-type congenital muscular dystrophy in the Japanese population. Hum Genet 107: 559-567
9. Taniguchi-Ikeda M, Kobayashi K, Kanagawa M et al (2011) Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy. Nature 478: 127-131
10. Godfrey C, Clement E, Mein R et al (2007) Refining genotype-phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. Brain 130: 2725-2735
11. Cotarelo RP, Valero MC, Prados B et al (2008) Two new patients bearing mutations in the fukutin gene confirm the relevance of this gene in Walker-Warburg syndrome. Clin Genet 73: 139-145
12. Tunc BT, Mungan IA, Okulu E et al (2009) Hyperekplexia in a neonate: a novel finding in Fukuyama type congenital muscular dystrophy. Genet Couns 20: 275-279
13. Vuillaumier-Barrot S, Quijano-Roy S, Bouchet-Seraphin C et al (2009) Four Caucasian patients with mutations in the fukutin gene and variable clinical phenotype. Neuromuscul Disord 19: 182-188
14. Aida N, Tamagawa K, Takada K et al (1996) Brain MR in Fukuyama congenital muscular dystrophy. AJNR Am J Neuroradiol 17: 605-613
15. Kato T, Funahash M, Matsui A et al (2000) MRI of disseminated developmental dysmyelination in Fukuyama type of CMD. Pediatr Neurol 23: 385-388
16. Kato Z, Saito K, Isogaki K et al (2006) Magnetic resonance imaging and spectroscopy in Fukuyama-type congenital muscular dystrophy. J Pediatr Neurol 4: 261-264
17. Kato Z, Morimoto M, Orii KE et al (2010) Developmental changes of radiological findings in Fukuyama-type congenital muscular dystrophy. Pediatr Radiol 40: 127-129
18. Arai Y (1993) Characteristic of muscles involvement evaluated by CT scans in early stages of progressive muscular dystrophy: comparison between Duchenne and Fukuyama types (in Japanese). J Tokyo Wom Med Univ 63: 1089-1103
19. Hayashi YK, Ogawa M, Tagawa K et al (2001) Selective deficiency of alpha-dystroglycan in Fukuyama-type congenital muscular dystrophy. Neurology 57: 115-121
20. Nakano I, Funahashi M, Takada K et al (1996) Are breaches in the glia limitans the primary cause of the micropolygyria in Fukuyama-type congenital muscular dystrophy (FCMD)? Pathological study of the cerebral cortex of an FCMD fetus. Acta Neuropathol 91: 313-321
21. Yamamoto T, Kawaguchi M, Sakayori N et al (2006) Intracellular binding of fukutin and alpha-dystroglycan: relation to glycosylation of alpha-dystroglycan. Neurosci Res 56: 391-399
22. Saito Y, Yamamoto T, Mizuguchi M et al (2006) Altered glycosylation of alpha-dystroglycan in neurons of Fukuyama congenital muscular dystrophy brains. Brain Res 1075: 223-228
23. Hiroi A, Yamamoto T, Shibata N et al (2011) Roles of fukutin, the gene responsible for Fukuyama-type congenital muscular dystrophy, in neurons: possible involvement in synaptic function and neuronal migration. Acta Histochem Cytochem 44: 91-101
24. Fukuyama Y, Osawa M, Suzuki H (1983) Congenital progressive muscular dystrophy of the Fukuyama type - clinical, genetic and pathological considerations. Brain Dev 3: 1-29
25. Osawa M, Suzuki N, Arai Y et al (1993) Fukuyama-type congenital progressive muscular dystrophy (FCMD)-special comment on the relationship between case reported by Nakayama et al and FCMD. Neuropathologica 13: 259-268
26. Hino-Fukuyo N, Haginoya K, Hayashi YK et al (2006) A case of Fukuyama-type congenital muscular dystrophy with a very mild mental deficit. Neuromuscul Disord 16: 274-276
27. Saito K, Kobayashi M (2001) Fukuyama congenital muscular dystrophy. In: Emery AEH (ed) Muscular dystrophies. Oxford Press, Oxford, pp 39-54
28. Yoshioka M, Higuchi Y (2005) Long-term prognosis of epilepsies and related seizure disorders in Fukuyama-type congenital muscular dystrophy. J Child Neurol 20: 385-391
29. Akiyama T, Ohtsuka Y, Takata T et al (2006) The mildest known case of Fukuyama-type congenital muscular dystrophy. Brain Dev 28: 537-540
30. Yoshioka M, Higuchi Y, Fujii T et al (2007) Seizure-genotype relationship in Fukuyama-type congenital muscular dystrophy. Brain Dev 30: 59-67
31. Tsutsumi A, Uchida Y, Osawa M et al (1989) Ocular findings in Fukuyama type congenital muscular dystrophy. Brain Dev 11: 413-419
32. Hino N, Kobayashi M, Shibata N et al (2001) Clinicopathological study on eyes from cases of Fukuyama type congenital muscular dystrophy. Brain Dev 23: 97-107
33. Miura K, Shirasawa H (1987) Congenital muscular dystrophy of the Fukuyama type (FCMD) with severe myocardial fibrosis. A case report with postmortem angiography. Acta Pathol Jpn 37: 1823-1835
34. Nakanishi T, Sakauchi M, Kaneda Y et al (2006) Cardiac involvement in Fukuyama-type congenital muscular dystrophy. Pediatrics 117: e1187-e1192
35. Jefferies JL, Eidem BW, Belmont JW et al (2005) Genetic predictors and remodeling of dilated cardiomyopathy in muscular dystrophy. Circulation 112: 2799-2804
36. Kajimoto H, Ishigaki K, Okumura K et al (2006) Beta-blocker therapy for cardiac dysfunction in patients with muscular dystrophy. Circ J 70: 991-994
37. Murakami T, Hayashi YK, Noguchi S et al (2006) Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness. Ann Neurol 60: 597-602
38. Arimura T, Hayashi YK, Murakami T et al (2009) Mutational analysis of fukutin gene in dilated cardiomyopathy and hypertrophic cardiomyopathy. Circ J 73: 158-161
39. Mizuno T, Komaki H, Sasaki M et al (2012) Efficacy and tolerance of gastrostomy feeding in Japanese muscular dystrophy patients. Brain Dev 34: 756-762
40. Sato T, Ishigaki K, Kajino S et al (2013) Insomnia in patients with Fukuyama congenital muscular dystrophy. J Tokyo Wom Med Univ 83: 42-46
41. Itoh M, Houdou S, Kawahara H et al (1996) Morphological study of the brainstem in Fukuyama type congenital muscular dystrophy. Pediatr Neurol 15: 327-331
42. Murakami T, Ishigaki K, Shirakawa S et al (2012) Severe muscle damage following viral infection in patients with Fukuyama congenital muscular dystrophy. Brain Dev 34: 293-297
43. Godfrey C, Escolar D, Brockington M et al (2006) Fukutin gene mutations in steroidresponsive limb girdle muscular dystrophy. Ann Neurol 60: 603-610
44. Ikenaka H, Kawahara M, Yanagaki S et al (2000) Transient exacerbation of muscle weakness induced by febrile illness in patients with congenital muscular dystrophy. J Tokyo Wom Med Univ 70: 40-46
45. Komine S, Kodaira K, Ikeya K et al (2013) Glucose metabolism in patients with congenital muscular dystrophy (in Japanese). J Tokyo Wom Med Univ 83: 25-35
46. Takaso M, Nakazawa T, Imura T et al (2010) Surgical correction of spinal deformity in patients with congenital muscular dystrophy. J Orthop Sci 15: 493-501
47. Saito K (2006) Prenatal diagnosis of Fukuyama congenital muscular dystrophy. Prenat Diagn 26: 415-417
48. Kanagawa M, Yu CC, Ito C et al (2013) Impaired viability of muscle precursor cells in muscular dystrophy with glycosylation defects and amelioration of its severe phenotype by limited gene expression. Hum Mol Genet 22: 3003-3015