Magnetic resonance imaging in classification of congenital muscular dystrophies with brain abnormalities

Annals of Neurology

Volumn 42, Issue 1, 1997, Pages 50-59

  Van Der Knaap, M S ^a   Smit, L M E ^a   Barth, P G ^b   Catsman Berrevoets, C E ^c   Brouwer, O F ^d   Begeer, J H ^e   De Coo, I F M ^f   Valk, J ^a  

^a VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^b ACADEMIC MEDICAL CENTER   (Netherlands)

^c SOPHIA CHILDREN S HOSPITAL   (Netherlands)

^d LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^e UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^f RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; AGYRIA; ARTICLE; BRAIN AQUEDUCT STENOSIS; BRAIN MALFORMATION; CEREBELLUM VERMIS; CHILD; CLINICAL ARTICLE; HUMAN; HYDROCEPHALUS; HYPOPLASIA; INFANT; MICROGYRIA; MUSCULAR DYSTROPHY; NUCLEAR MAGNETIC RESONANCE IMAGING; PACHYGYRIA; PONS; POSTERIOR FOSSA; PRIORITY JOURNAL; WALKER WARBURG SYNDROME; WHITE MATTER;

ADOLESCENT; ADULT; BRAIN; CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MUSCULAR DYSTROPHIES;

EID: 0030837406     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.410420110     Document Type: Article

References (53)

1. Arahata K, Ishii H, Hayashi YK. Congenital muscular dystrophies. Curr Opin Neurol 1995;8:385-390
2. Reed UC, Marie SK, Vainzof M, et al. Congenital muscular dystrophy with cerebral white matter hypodensity. Correlation of clinical features and merosin deficiency. Brain Dev 1996;18: 53-58
3. Dubowitz V. 22nd ENMC sponsored workshop on congenital muscular dystrophy. Neuromusc Disord 1994;4:75-81
4. Dubowitz V, Fardeau M. Proceedings of the 27th ENMC sponsored workshop on congenital muscular dystrophy. Neuromusc Disord 1995;5:253-258
5. Dubowitz V. Muscle disorders in childhood. London: WB Saunders, 1995:93-105
6. Kihira S, Nonaka I. Congenital muscular dystrophy. A histochemical study with morphometric analysis on biopsied muscles. J. Neurol Sci 1985;70:139-149
7. Dobyns WB, Pagon RA, Armstrong D, et al. Diagnostic criteria for Walker-Warburg syndrome. Am J Med Genet 1989;32: 195-210
8. Raybaud C. Cystic malformations of the posterior fossa: abnormalities associated with the development of the roof of the fourth ventricle and adjacent meningeal structures. J Neuroradiol 1982;9:103-133
9. Kimura S, Sasaki Y, Kobayashi T, et al. Fukuyama-type congenital muscular dystrophy and the Walker-Warburg syndrome. Brain Dev 1993;15:182-191
10. Dobyns WB, Kirpatrick JB, Hittner HM, et al. Syndromes with lissencephaly. II: Walker-Warburg and cerebro-ocular-muscular syndromes and a new syndrome with type II lissencephaly. AMJ Med Genet 1985;22:157-195
11. Towfighi J, Sassani JW, Suzuki K, Ladda RL. Cerebro-ocular dysplasia-muscular dystrophy (COD-MD) syndrome. Acta Neuropathol 1984;65:110-123
12. Gammal TE, Allen MB, Brooks BS, Mark EK. MR evaluation of hydrocephalus. Am J Neuroradiol 1987;8:591-597
13. Friede RL. Hydrocephalus - basic concepts and general pathology. In: Developmental neuropathology. Heidelberg: Springer, 1989:220-230
14. Krijgsman JB, Barth PG, Stam FC, et al. Congenital muscular dystrophy and cerebral dysgenesis in a Dutch family. Neuropediatrics 1980;11:108-120
15. Federico A, Dotti MT, Malandrini A, et al. Cerebro-ocular dysplasia and muscular dystrophy: report of two cases. Neuropediatrics 1988;19:109-112
16. Takada K, Becker LE, Takashima S. Walker-Warburg syndrome with skeletal muscle involvement. Pediatr Neurosci 1987;13:202-209
17. 2) expression in skeletal muscle distinguishes Walker-Warburg syndrome from Fukuyama muscular dystrophy and merosin-deficient congenital muscular dystrophy. Neuropediatrics 1995;26:148-155
18. Di Rocco M, Leveratto L, Cama A, et al. Report on a patient with congenital muscular dystrophy, hydrocephalus, Dandy-Walker malformation and leukodystrophy. Genet Counsel 1993;4:295-298
19. Laverda AM, Battaglia MA, Drigo P, et al. Congenital muscular dystrophy, brain and eye abnormalities: one or more clinical entities? Child Nerv Syst 1993;9:84-87
20. Valanne L, Pihko H, Katevuo K, et al. MRI of the brain in muscle-eye-brain (MEB) disease. Neuroradiology 1994;36:473-476
21. Pihko H, Lappi M, Raitta C, et al. Ocular findings in muscle-eye-brain (MEB) disease: a follow-up study. Brain Dev 1995; 17:57-61
22. Gerding H, Gullotta F, Kuchelmeister K, Busse H. Ocular findings in Walker-Warburg syndrome. Child Nerv Syst 1993; 9:418-420
23. Trevisan CP, Carollow C, Segalla P, et al. Congenital muscular dystrophy: brain alterations in an unselected series of Western patients. J Neurol Neurosurg Psychiatry 1991;54:330-334
24. Trevisan CP, Martinello F, Ferruzza E, Angelini C. Divergence of central nervous system involvement in two Italian sisters with congenital muscular dystrophy: a clinical and neuroradiological follow-up. Eur Neurol 1995;35:230-235
25. Sunada Y, Edgar TS, Lotz BP, et al. Merosin-negative congenital muscular dystrophy associated with extensive brain abnormalities. Neurology 1995;45:2084-2089
26. Mercuri E, Muntoni F, Berardinelli A, et al. Somatosensory and visual evoked potentials in congenital muscular dystrophy: correlation with MRI changes and muscle merosin status. Neuropediatrics 1995;26:3-7
27. Mercuri E, Dubowitz L, Berardinelli A, et al. Minor neurological and perceptuomotor deficits in children with congenital muscular dystrophy: correlation with brain MRI changes. Neuropediatrics 1995;26:156-162
28. Philpot J, Topaloglu H, Pennock J, Dubowitz V. Familial concordance of brain magnetic resonance imaging changes in congenital muscular dystrophy. Neuromusc Dis 1995;5:227-231
29. Philpot J, Sewry C, Pennock J, Dubowitz V. Clinical phenotype in congenital muscular dystrophy: correlation with expression of merosin in skeletal muscle. Neuromusc Disord 1995;5: 301-305
30. Vainzof M, Marie SKN, Reed UC, et al. Deficiency of merosin (laminin M or α2) in congenital muscular dystrophy associated with cerebral white matter alterations. Neuropediatrics 1995;26: 293-297
31. Echenne B, Pages M, Marry-Double C. Congenital muscular dystrophy with cerebral white matter spongiosis. Brain Dev 1984;6:491-495
32. Egger J, Kendall BE, Erdohazi M, et al. Involvement of the central nervous system in congenital muscular dystrophies. Dev Med Child Neurol 1983;25:32-42
33. Jervis GA. Progressive muscular dystrophy with extensive demyelination of the brain. J Neuropathol Exp Neurol 1955;14:376-386
34. Yoshioka M, Kuroki S. Clinical spectrum and genetic studies of Fukuyama congenital muscular dystrophy. Am J Med Genet 1994;53:245-250
35. Fukuyama Y, Osawa M, Suzuki H. Congenital progressive muscular dystrophy of the Fukuyama type - clinical, genetic and pathological considerations. Brain Dev 1981;3:1-29
36. Dobyns WB. Classification of the cerebro-oculo-muscular syndrome(s). Brain Dev 1993;15:242-244
37. Takashima S, Becker LE, Chan F, Takada K. A Golgo study of the cerebral cortex in Fukuyama-type congenital muscular dystrophy, Walker-type "lissencephaly," and classical lissencephaly. Brain Dev 1987;9:621-626
38. Yoshioka M, Saiwai, S, Kuroki S, Nigami H. MR imaging of the brain in Fukuyama-rype congenital muscular dystrophy. Am J Neuroradiol 1991;12:63-65
39. Aihara M, Tanabe Y, Kato K. Serial MRI in Fukuyama type congenital muscular dystrophy. Neuroradiology 1992;34:396-398
40. Aida N, Tamagawa K, Takada K, et al. Brain MR in Fukuyama congenital muscular dystrophy. Am J Neuroradiol 1996;17: 605-613
41. Aida N, Yagishita A, Takada K, Katsumata Y. Cerebellar MR in Fukuyama congenital muscular dystrophy: polymicrogyna with cystic lesions. Am J Neuroradiol 1994;15:1755-1759
42. Takada K, Nakamura H. Cerebellar micropolygyria in Fukuyama congenital muscular dystrophy: observations in fetal and pediatric cases. Brain Dev 1990;12:774-778
43. Yoshioka M, Okuno T, Ito M, et al. Congenital muscular dystrophy (Fukuyama type), repeated CT studies in 19 children. Comput Tomogr 1981;5:81-88
44. Takada K, Rin YS, Kasagi S, et al. Long survival in Fukuyama congenital muscular dystrophy: occurrence of neurofibrillary tangles in the nucleus basalis of Meynert and locus ceruleus. Acta Neuropathol 1986;71:228-232
45. Takada K, Nakamura H, Tanaka J. Cortical dysplasia in congenital muscular dystrophy with central nervous system involvement (Fukuyama type). J Neuropathol Exp Neurol 1984;43: 395-407
46. Peters ACB, Bots GTAM, Roos RAC, van Gelderen HH. Fukuyama type congenital muscular dystrophy - two Dutch siblings. Brain Dev 1984;6:406-416
47. Yoshioka M, Kuroki S, Nigami H, et al. Clinical variation within sibships in Fukuyama-type congenital muscular dystrophy. Brain Dev 1992;14:334-337
48. Toda T, Yoshioka M, Nakahon Y, et al. Genetic identity of Fukuyama-type congenital muscular dystrophy and Walker-Warburg syndrome. Ann Neurol 1995;37:99-101
49. Ranta S, Pihko H, Santavuori P, et al. Muscle-eye-brain disease and Fukuyama type congenital muscular dystrophy are not allelic. Neuromusc Dis 1995;5:221-225
50. Hillaire D, Leclerc A, Fauré S, et al. Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping. Hum Mol Genet 1994;3:1657-1661
51. Leyten QH, Ter Laak HJ, Gabreëls FJM, et al. Congenital muscular dystrophy, a study on the variability of morphological changes and dystrophin distribution in muscle biopsies. Acta Neuropathol 1993;86:386-392
52. Hayashi YK, Engvall E, Arikawa-Hirasawa E, et al. Abnormal localization of laminin subunits in muscular dystrophies. J Neurol Sci 1993;119:53-64
53. Van der Knaap MS, Valk J. Magnetic resonance of myelin, myelination, and myelin disorders. 2nd ed. Heidelberg: Springer, 1995