Brain magnetic resonance imaging abnormalities in merosin-positive congenital muscular dystrophy

European Journal of Paediatric Neurology

Volumn 4, Issue 3, 2000, Pages 109-114

  Philpot, J ^a   Pennock, J ^b   Cowan, F ^b   Sewry, C A ^a   Dubowitz, V ^a   Bydder, G ^b   Muntoni, F ^a,b  

^a Dubowitz Neuromuscular Centre   (United Kingdom)

^b HAMMERSMITH HOSPITAL   (United Kingdom)

Author keywords

Brain magnetic resonance imaging; Congenital muscular dystrophy; Merosin positive

Indexed keywords

MEROSIN;

ADOLESCENT; ARTICLE; BRAIN VENTRICLE DILATATION; CEREBELLUM ATROPHY; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; COMPLEX PARTIAL SEIZURE; DEVELOPMENTAL DISORDER; FEMALE; HUMAN; MALE; MICROGYRIA; MOTOR PERFORMANCE; MUSCLE HYPOTONIA; MUSCLE WEAKNESS; MUSCULAR DYSTROPHY; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL;

EID: 0034192753     PISSN: 10903798     EISSN: None     Source Type: Journal    
DOI: 10.1053/ejpn.2000.0277     Document Type: Article

References (22)

1. Osawa M, Sumida S, Suzuki N et al. Fukuyama type congenital progressive muscular dystrophy. In: Fukuyama Y, Osawa M, Saito K (eds) Congenital Muscular Dystrophies. Amsterdam: Elsevier, 1997: 31-68.
2. Santavuori P, Leisti J, Kruus S. Muscle, eye and brain disease: A new syndrome. Neuropädiatrie 1977; 8: 553-558.
3. Dobyns WB, Pagon RA, Armstrong D et al. Diagnostic criteria for Walker-Warburg syndrome. Am J Med Genet 1989; 32: 195-210.
4. Dubowitz V. 22nd ENMC sponsored workshop on congenital muscular dystrophy. Neuromusc Disord 1994; 4: 75-81.
5. Tomé FMS, Evangelista T, Leclerc A et al. Congenital muscular dystrophy with merosin deficiency. C R Acad Sci Paris, Life Sci 1994; 317: 351-357.
6. 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.
7. Hillaire D, Leclerc A, Fauré S et al. Localisation of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping. Hum Mol Genet 1994; 3: 1657-1661.
8. Helbling-Leclerc A, Topaloglu H, Tomé FMS et al. Readjusting the localisation of merosin (laminin α2 chain) deficiency CMD locus on chromosome 6q2. Cr Acad Sci Paris Life Sci 1995; 318: 1245-1252.
9. Naom I, D'Alessandro M, Topaloglu H et al. Refinement of the α2 chain locus to human chromosome 6q2 in severe and mild merosin-deficient congenital muscular dystrophy. J Med Genet 1997; 34: 99-104.
10. Helbling-Leclerc A, Zhang X, Topaloglu H et al. Mutations in the laminin α2 chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy. Nature Genet 1995; 11: 216-218.
11. Moghadaszadeh B, Desguerre I, Topaloglu H et al. Identification of a new locus for congenital muscular dystrophy with rigid spine syndrome to chromosome 1p35-36. Am J Hum Genet 1998; 62: 1439-1445.
12. Sunada Y, Edgar TS, Lotz BP, Rust RS, Campbell KP. Merosin-negative congenital muscular dystrophy associated with extensive brain abnormalities. Neurology 1995; 45: 2084-2089.
13. Pini A, Merlini L, Tome FMS, Chevallay M, Gobbi G. Merosin-negative congenital muscular dystrophy, occipital epilepsy with periodic spasms and focal cortical dysplasia. Report of three Italian cases in two families. Brain Dev 1996; 18: 316-322.
14. Van der Knaap MS, Smit LME, Barth PG et al. Magnetic resonance imaging in classification of congenital muscular dystrophies with brain abnormalities. Ann Neurol 1997; 42: 50-59.
15. Philpot J, Cowan F, Pennock J et al. Merosin-deficient congenital muscular dystrophy: The spectrum of brain involvement of magnetic resonance imaging. Neuromusc Disord 1999; 9: 81-85.
16. Barkovich AJ. Pediatric Neuroradiology 2nd Edn. New York: Raven Press, 1995: 5.
17. Trevisan CP, Martinello F, Feruzza E et al. Brain alterations in the classical form of congenital muscular dystrophy. Clinical and neuroimaging follow-up of 12 cases and correlation with the expression of merosin in the muscle. Childs Nerv Syst 1996; 12: 604-610.
18. De Stefano N, Dotti MT, Villanova M et al. Merosin positive congenital muscular dystrophy with severe involvement of the central nervous system. Brain Dev 1996; 18: 323-326.
19. Echenne B, Rivier F, Jellali AJ et al. Merosin positive congenital muscular dystrophy with mental deficiency, epilepsy and MRI changes in the cerebral white matter. Neuromusc Disord 1997; 7: 187-190.
20. Echenne B, Rivier F, Tardieu M. Congenital muscular dystrophy and cerebellar atrophy. Neurology 1998; 50: 1477-1480.
21. Voit T, Cohn RD, Sperner J et al. Merosin positive congenital muscular dystrophy with transient brain dysmyelination, pontocerebellar hypoplasia and mental retardation. Neuromusc Disord 1999; 9: 95-101.
22. 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.