Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations

Archives of Neurology

Volumn 63, Issue 2, 2006, Pages 251-257

  Mercuri, Eugenio ^a,b   Topaloglu, Haluk ^c   Brockington, Martin ^a   Berardinelli, Angela ^d   Pichiecchio, Anna ^d   Santorelli, Filippo ^e   Rutherford, Mary ^a   Talim, Beril ^c   Ricci, Enzo ^b   Voit, Thomas ^f   Muntoni, Francesco ^a  

^a IMPERIAL COLLEGE LONDON   (United Kingdom)

^b CATHOLIC UNIVERSITY   (Italy)

^c HACETTEPE UNIVERSITY   (Turkey)

^d C MONDINO NATIONAL NEUROLOGICAL INSTITUTE   (Italy)

^e Bambino Gesu   (Italy)

^f UNIVERSITY HOSPITAL ESSEN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

FUKUTIN;

ARTICLE; BRAIN CYST; BRAIN DISEASE; CEREBELLUM CORTEX; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; FEMALE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INTELLIGENCE; MALE; MENTAL DEFICIENCY; MUSCULAR DYSTROPHY; NUCLEAR MAGNETIC RESONANCE IMAGING; PONS; PRIORITY JOURNAL; SPECTRUM; WALKER WARBURG SYNDROME;

BRAIN; CHILD; CHILD, PRESCHOOL; FEMALE; GENOTYPE; HUMANS; INFANT; INTELLIGENCE; MAGNETIC RESONANCE IMAGING; MALE; MUSCULAR DYSTROPHIES; PHENOTYPE; PROTEINS; RETROSPECTIVE STUDIES; SEVERITY OF ILLNESS INDEX;

EID: 32944460140     PISSN: 00039942     EISSN: None     Source Type: Journal    
DOI: 10.1001/archneur.63.2.251     Document Type: Article

References (30)

1. Brockington M, Blake DJ, Prandini P, et al. Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan. Am J Hum Genet. 2001;69:1198-1209.
2. Brockington M, Yuva Y, Prandini P, et al. Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C. Hum Mol Genet. 2001;10:2851-2859.
3. Toda T, Segawa M, Nomura Y, et al. Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31-33 [published correction appears in Nat Genet. 1994;7:113]. Nat Genet. 1993;5:283-286.
4. Yoshida A, Kobayashi K, Manya H, et al. Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1. Dev Cell. 2001;1:717-724.
5. Beltran-Valero de Bernabe D, Currier S, Steinbrecher A, et al. Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. Am J Hum Genet. 2002;71:1033-1043.
6. Longman C, Brockington M, Torelli S, et al. Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan. Hum Mol Genet. 2003;12:2853-2861.
7. Mercuri E, Brockington M, Straub V, et al. Phenotypic spectrum associated with mutations in the fukutin-related protein gene. Ann Neurol. 2003;53:537-542.
8. Topaloglu H, Brockington M, Yuva Y, et al. FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts. Neurology. 2003;60:988-992.
9. Louhichi N, Triki C, Quijano-Roy S, et al. New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities: identification of a founder mutation in Tunisian families. Neurogenetics. 2004;5:27-34.
10. Beltran-Valero de Bernabe D, Voit T, Longman C, et al. Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome. J Med Genet. 2004;41:e61.
11. Matsumoto H, Hayashi YK, Kim DS, et al. Congenital muscular dystrophy with glycosylation defects of alpha-dystroglycan in Japan. Neuromuscul Disord. 2005;15:342-348.
12. Philpot J, Cowan F, Pennock J, Muntoni F, Bydder G, Dubowitz V. Merosin deficient congenital muscular dystrophy: the spectrum of brain lesions on magnetic resonance imaging. Neuromuscul Disord. 1999;9:81-85.
13. Taniguchi K, Kobayashi K, Saito K, et al. Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease. Hum Mol Genet. 2003;12:527-534.
14. Diesen C, Saarinen A, Pihko H, et al. POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease. J Med Genet. 2004;41:e115.
15. Vervoort VS, Holden KR, Ukadike KC, Collins JS, Saul RA, Srivastava AK. POMGnT1 gene alterations in a family with neurological abnormalities. Ann Neurol. 2004;56:143-148.
16. Longman C, Mercuri E, Cowan F, et al. Antenatal and postnatal brain magnetic resonance imaging in muscle-eye-brain disease Arch Neurol. 2004;61:1301-1306.
17. Haltia M, Leivo I, Somer H, et al. Muscle-eye-brain disease: a neuropathological study. Ann Neurol. 1997;41:173-180.
18. 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.
19. Pini A, Merlini L, Tome FM, Chevalley M, Gobbi G. Merosin negative congenital muscular dystrophy, occipital epilepsy with periodic spasms and focal cortical dysplasia: report from three Italian cases in two families. Brain Dev. 1996;18:316-322.
20. Aida N, Tamagawa K, Takada K, et al. Brain MR in Fukuyama congenital muscular dystrophy. AJNR Am J Neuroradiol. 1996;17:605-613.
21. 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.
22. Takashima S, Mizuguchi M. Cytoarchitectonic alterations of the cerebral cortex in Fukuyama type congenital muscular dystrophy and other cortical dysplasia syndrome. In: Fukuyama Y, Osawa M, Saito K, eds. Congenital Muscular Dystrophies. Amsterdam, the Netherlands: Elsevier Science Publishers; 1997: chap 4.
23. Saito Y, Kobayashi M, Itoh M, et al. Aberrant neuronal migration in the brainstem of Fukuyama-type congenital muscular dystrophy. J Neuropathol Exp Neurol. 2003;62:497-508.
24. Brown SC, Torelli S, Brockington M, et al. Abnormalities in alpha-dystroglycan expression in MDC1C and LGMD2I muscular dystrophies. Am J Pathol. 2004;164:727-737.
25. Gleeson JG, Walsh CA. Neuronal migration disorders: from genetic diseases to developmental mechanisms. Trends Neurosci. 2000;23:352-359.
26. Montanaro F, Carbonetto S. Targeting dystroglycan in the brain. Neuron. 2003;37:193-196.
27. Qu Q, Smith FI. Alpha-dystroglycan interactions affect cerebellar granule neuron migration. J Neurosci Res. 2004;76:771-782.
28. Bronner-Fraser M. Analysis of the early stages of trunk neural crest migration in avian embryos using monoclonal antibody HNK-1. Dev Biol. 1986;115:44-55.
29. Dobyns WB, Pagon RA, Armstrong D, et al. Diagnostic criteria for Walker-Warburg syndrome. Am J Med Genet. 1989;32:195-210.
30. Esapa CT, McIlhinney RA, Blake DJ. Fukutin-related protein mutations that cause congenital muscular dystrophy result in ER-retention of the mutant protein in cultured cells. Hum Mol Genet. 2005;14:295-305.