Merosin-deficient congenital muscular dystrophy (CMD): a study of 25 Brazilian patients using MRI

Leite, Claudia da Costa; Lucato, Leandro Tavares; Martin, Maria G. M.; Ferreira, Luciana Garros; Resende, Maria Bernadete Dutra de; Carvalho, Mary S.; Marie, Suely Kazue Nagahashi; Jinkins, J. R.; Reed, Umbertina Conti

doi:10.1007/s00247-004-1398-y

Cited by 38 publications

(21 citation statements)

References 23 publications

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“…2). Expression of laminins correlates with the onset of CNS myelination (Colognato et al 2002;Colognato et al 2005), and varied degrees of defects have been found in white matter tracts of patients suffering from MDC (Caro et al 1999;Leite et al 2005). Mice lacking laminin a2 have a developmental delay in oligodendrocyte maturation, resulting in hypomyelination (Chun et al 2003;Relucio et al 2009).…”

Section: Lamininsmentioning

confidence: 99%

Extracellular Matrix: Functions in the Nervous System

Barros

Franco

Müller

2010

Cold Spring Harbor Perspectives in Biology

337

260

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An astonishing number of extracellular matrix glycoproteins are expressed in dynamic patterns in the developing and adult nervous system. Neural stem cells, neurons, and glia express receptors that mediate interactions with specific extracellular matrix molecules. Functional studies in vitro and genetic studies in mice have provided evidence that the extracellular matrix affects virtually all aspects of nervous system development and function. Here we will summarize recent findings that have shed light on the specific functions of defined extracellular matrix molecules on such diverse processes as neural stem cell differentiation, neuronal migration, the formation of axonal tracts, and the maturation and function of synapses in the peripheral and central nervous system.

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Section: Lamininsmentioning

confidence: 99%

Extracellular Matrix: Functions in the Nervous System

Barros

Franco

Müller

2010

Cold Spring Harbor Perspectives in Biology

337

260

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“…We did not include CMD with Merosin deficiency in this study, because it does not manifest brain features of CBSC and is not of the group of disorders previously called type 2 lissencephaly. 15 After this initial classification, the posterior fossa in each case was carefully reviewed with separate attention to the midbrain, the pons, the medulla, the cerebellar vermis, and the cerebellar hemispheres. Morphologic features were then recorded according to a systematic visual analysis as follows:…”

Section: )mentioning

confidence: 99%

Midbrain–hindbrain involvement in lissencephalies

Jissendi-Tchofo¹,

Kara²,

Barkovich³

2009

Neurology

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Objectives:To determine the involvement of the midbrain and hindbrain (MHB) in the groups of classic (cLIS), variant (vLIS), and cobblestone complex (CBSC) lissencephalies and to determine whether a correlation exists between the cerebral malformation and the MHB abnormalities.Methods: MRI scans of 111 patients (aged 1 day to 32 years; mean 5 years 4 months) were retrospectively reviewed. After reviewing the brain involvement on MRI, the cases were reclassified according to known mutation (LIS1, DCX, ARX, VLDLR, RELN, MEB, WWS) or mutation phenotype (LIS1-P, DCX-P, RELN-P, ARX-P, VLDLR-P) determined on the basis of characteristic MRI features. Abnormalities in the MHB were then recorded. For each structure, a score was assigned, ranging from 0 (normal) to 3 (severely abnormal). The differences between defined groups and the correlation between the extent of brain agyria/pachygyria and MHB involvement were assessed using Kruskal-Wallis and 2 McNemar tests. Results:There was a significant difference in MHB appearance among the three major groups of cLIS, vLIS, and CBSC. The overall score showed a severity gradient of MHB involvement: cLIS (0 or 1), vLIS (7), and CBSC (11 or 12). The extent of cerebral lissencephaly was significantly correlated with the severity of MHB abnormalities (p ϭ 0.0029). Conclusion: GLOSSARYA ϭ autosomal; ACC ϭ agenesis of corpus callosum; AD ϭ autosomal dominant; AP ϭ anteroposterior; AR ϭ autosomal recessive; CBL ϭ cerebellar; CBSC ϭ cobblestone complex; cLIS ϭ classic lissencephaly; CMD ϭ congenital muscular dystrophy; CSZ ϭ cell-sparse zone; DV ϭ dorsal-ventral; FCMD ϭ Fukuyama congenital muscular dystrophy; IVH ϭ inferior vermis hypoplasia; LV ϭ lateral ventricle; m ϭ medulla; M ϭ midbrain; MDS ϭ Miller-Dieker syndrome; MEB ϭ muscle-eyebrain; MHB ϭ midbrain and hindbrain; MR ϭ magnetic resonance; ND ϭ not determined; P ϭ pons; RC ϭ rostrocaudal; SCBH ϭ subcortical band heterotopia; SELH ϭ subependymal linear heterotopia; V ϭ vermis; vLIS ϭ variant lissencephaly; WI ϭ weighted image; WWS ϭ Walker-Warburg syndrome; XLD ϭ X-linked dominant; XLR ϭ X-linked recessive.The term lissencephaly (smooth outer brain surface) refers to a paucity of gyral and sulcal development. 1 It encompasses a spectrum of gyral malformations ranging from complete agyria to regional pachygyria and includes subcortical band heterotopia. Lissencephaly has been traditionally classified in two distinct groups: classic (cLIS, formerly called lissencephaly type 1) and cobblestone complex (CBSC, formerly called lissencephaly type 2) based on both brain imaging and pathology. To date, five genes have been identified as causing or contributing to human cLIS: LIS1, 14-3-3 in Miller-Dieker syndrome (MDS), DCX, RELN, and ARX. [1][2][3][4][5][6] A new classification has recently been proposed defining four groups of cLIS differing from each other by genetics and neuropathologic features of the cerebral cortex, cerebellum, and brainstem. 3 1)

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“…These disorders mainly include agyria/pachygyria and polymicrogyria of occipital cortex 5,7 . Leite et al 5 . described only one case of bioccipitial pachygyria in MRI series of 25 cases with laminin α2 related congenital muscular dystrophy.…”

Section: Discussionmentioning

confidence: 98%

“…Most of the patients have abnormal brain magnetic resonance imaging (MRI), which consists of high signal on T2 weighted and FLAIR images 1,2 . Malformations of cortical development mainly involving the occipital cortex have been not well appreciated in clinical practice to be associated with laminin α2 related congenital muscular dystrophy [3][4][5][6][7][8][9] .…”

mentioning

confidence: 99%

Occipital cortex dysgenesis with white matter changes due to mutations in Laminin a2

Yış¹,

Dixit²,

Işıkay³

et al. 2017

Turk J Pediatr

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Laminin α2 related congenital muscular dystrophy is one of the most common congenital muscular dystrophies of childhood with or without clinical evidence of central nervous system involvement. It may be associated with significant white matter abnormalities resembling leukodystrophies. In this study, we elaborated on two cases with laminin α2 related congenital muscular dystrophy who had occipital cortex dysgenesis in addition to characteristic white matter abnormalities. Although laminin α2 related congenital muscular dystrophy with white matter abnormalities is known, the association with occipital cortex dysplasia has been not well recognized by clinical colleagues.Key words: laminin α2, congenital muscular dystrophy, occipital cortex, dysgenesis.The clinical manifestations of LAMA2-related muscular dystrophy (LAMA2 MD) range from severe, early-onset congenital muscular dystrophy (CMD) -referred to as early-onset LAMA2-related muscular dystrophy (LAMA2 MD) to mild, later childhood-onset limb-girdle type muscular dystrophy as late-onset LAMA2-related muscular dystrophy (LAMA2 MD) 1 . LAMA2 Laminin α2 related CMD is caused by the mutations in the LAMA2 gene (OMIM 607855) located on chromosome 6q22-23 coding the α2 chain of laminin-211, also known as merosin, a heterotrimeric extracellular matrix protein 2 . It is one of the most common forms of CMD. Patients present with hypotonia, weakness of the extremities and contractures in the distal extremities. Patients with complete deficiency do not achieve independent ambulation but patients with a partial deficiency present with milder phenotypes 1,2 . Most of the patients have abnormal brain magnetic resonance imaging (MRI), which consists of high signal on T2 weighted and FLAIR images 1,2 . Malformations of cortical development mainly involving the occipital cortex have been not well appreciated in clinical practice to be associated with laminin α2 related congenital muscular dystrophy 3-9 . Case Reports Case 1A four-month-old boy was admitted for the investigation of delayed motor milestones. Birth history was unremarkable. Parents were second-degree consanguineous and he had a healthy four-year-old sister. He was not able to hold his head. He was hypotonic and deep tendon reflexes could not be obtained. Serum creatinine kinase was elevated with 4267 IU/L. Congenital muscular dystrophy was suggested and the patient was referred for ophthalmologic examination and brain magnetic resonance imaging (MRI) scans. Ophthalmologic examination was normal but brain MRI revealed occipital cortical dysgenesis with a subcortical band heterotopia (Fig. 1a).

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Merosin-deficient congenital muscular dystrophy (CMD): a study of 25 Brazilian patients using MRI

Cited by 38 publications

References 23 publications

Extracellular Matrix: Functions in the Nervous System

Extracellular Matrix: Functions in the Nervous System

Midbrain–hindbrain involvement in lissencephalies

Occipital cortex dysgenesis with white matter changes due to mutations in Laminin a2

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