Congenital muscular dystrophy with central and peripheral nervous system involvement in a Belgian patient

Belpaire-Dethiou, Marie-Claude; Saito, Kayoko; Fukuyama, Yukio; Kondo-Iida, Eri; Toda, Tatsushi; Duprez, Thierry; Verellen-Dumoulin, Ch.; Bergh, Peter Van den

doi:10.1016/s0960-8966(99)00009-7

Cited by 12 publications

(8 citation statements)

References 11 publications

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“…In humans, Laminin-2 mutations (merosin-deficient congenital muscular dystrophy, MDC1A) can lead to muscular dystrophy and a neuropathy characterized by short IL and reduced nerve conduction velocity (Shorer et al, 1995; Mora et al, 1996; Belpaire-Dethiou et al, 1999; Deodato et al, 2002; Di Muzio et al, 2003). To determine if Schwann cells in human MDC1A exhibit a defect in cytoplasmic compartmentalization that could explain the reduced IL, we measure the f-ratio EM from the sural biopsy of a MDC1A patient, from which a neuropathy with reduced IL was directly documented (Di Muzio et al, 2003) and a biopsy from a control patient with a chronic inflammatory demyelinating neuropathy, but morphologically normal sural nerve biopsy.…”

Section: Resultsmentioning

confidence: 99%

A Laminin-2, Dystroglycan, Utrophin Axis Is Required for Compartmentalization and Elongation of Myelin Segments

Court¹,

Hewitt²,

Davies³

et al. 2009

J. Neurosci.

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Animal and plant cells compartmentalize to perform morphogenetic functions. Compartmentalization of myelin-forming Schwann cells may favor elongation of myelin segments to the size required for efficient conduction of nerve impulses. Compartments in myelinated fibers were described by Ramón y Cajal and depend on periaxin, mutated in the hereditary neuropathy Charcot-Marie-Tooth disease type 4F (Charcot-Marie-Tooth 4F). Lack of periaxin in mice causes loss of compartments, formation of short myelin segments (internodes) and reduced nerve conduction velocity. How compartments are formed and maintained, and their relevance to human neuropathies is largely unknown. Here we show that formation of compartments around myelin is driven by the actin cytoskeleton, and maintained by actin and tubulin fences through linkage to the dystroglycan complex. Compartmentalization and establishment of correct internodal length requires the presence of glycosylated dystroglycan, utrophin and extracellular laminin-2/211. A neuropathic patient with reduced internodal length and nerve conduction velocity because of absence of laminin-2/211 (congenital muscular dystrophy 1A) also shows abnormal compartmentalization. These data link formation of compartments through a laminin2, dystroglycan, utrophin, actin axis to internodal length, and provide a common pathogenetic mechanism for two inherited human neuropathies. Other cell types may exploit dystroglycan complexes in similar fashions to create barriers and compartments.

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Section: Resultsmentioning

confidence: 99%

A Laminin-2, Dystroglycan, Utrophin Axis Is Required for Compartmentalization and Elongation of Myelin Segments

Court¹,

Hewitt²,

Davies³

et al. 2009

J. Neurosci.

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“…In addition to the brain and ocular defects, the FCMD, WWS, and MEB patients exhibit poor muscle functioning, which is mostly characterized by the stiffness and uncoordinated movements of limbs (Belpaire‐Dethiou et al, ; Pabuscu et al, ). A similar phenotype was also found in Nes;Ric8a CKO mice: newborn animals were laying on their sides being unable to right themselves because of the dropped forelimbs and stiff lower limbs (Kask et al, ), the latter being a characteristic feature of endomysial fibrosis (Jannapureddy et al, ; Bönnemann et al, ).…”

Section: Discussionmentioning

confidence: 99%

“…In addition to brain defects, several ocular malformations have been reported, including retinal dysplasia and retinal detachment, lens coloboma, cataract, glaucoma, buphthalmos, microphthalmia, anterior chamber dysgenesis, optic atrophy, and optic nerve hypoplasia (Nabi et al, 2003). Patients with FCMD, WWS, and MEB also have neuromuscular innervation defects, characterized by limb stiffness due to a muscle fiber atrophy and subsequent fibrosis (Belpaire-Dethiou et al, 1999;Pabuscu et al, 2003). One of the common symptoms is the axon dysmyelination which is in concordance with the muscle innervation defects (Belpaire-Dethiou et al, 1999;Pabuscu et al, 2003).…”

Section: Introductionmentioning

confidence: 99%

Targeted deletion of RIC8A in mouse neural precursor cells interferes with the development of the brain, eyes, and muscles

Kask

Tikker

Ruisu

et al. 2018

Developmental Neurobiology

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Autosomal recessive disorders such as Fukuyama congenital muscular dystrophy, Walker-Warburg syndrome, and the muscle-eye-brain disease are characterized by defects in the development of patient's brain, eyes, and skeletal muscles. These syndromes are accompanied by brain malformations like type II lissencephaly in the cerebral cortex with characteristic overmigrations of neurons through the breaches of the pial basement membrane. The signaling pathways activated by laminin receptors, dystroglycan and integrins, control the integrity of the basement membrane, and their malfunctioning may underlie the pathologies found in the rise of defects reminiscent of these syndromes. Similar defects in corticogenesis and neuromuscular disorders were found in mice when RIC8A was specifically removed from neural precursor cells. RIC8A regulates a subset of G-protein α subunits and in several model organisms, it has been reported to participate in the control of cell division, signaling, and migration. Here, we studied the role of RIC8A in the development of the brain, muscles, and eyes of the neural precursor-specific conditional Ric8a knockout mice. The absence of RIC8A severely affected the attachment and positioning of radial glial processes, Cajal-Retzius' cells, and the arachnoid trabeculae, and these mice displayed additional defects in the lens, skeletal muscles, and heart development. All the discovered defects might be linked to aberrancies in cell adhesion and migration, suggesting that RIC8A has a crucial role in the regulation of cell-extracellular matrix interactions and that its removal leads to the phenotype characteristic to type II lissencephaly-associated diseases. © 2018 Wiley Periodicals, Inc. Develop Neurobiol 78: 374-390, 2018.

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“…Some authors reported many structural encephalic malformations among patients with CMD, such as cortical dysplasia, cerebellar hypoplasia, cerebellar cists and ventriculomegaly 4,[8][9][10] . For example, Topaloglu and co-workers reported two cases of CMD and cerebellar cysts on cranial MRI 9 .…”

Section: Discussionmentioning

confidence: 99%

“…For example, Topaloglu and co-workers reported two cases of CMD and cerebellar cysts on cranial MRI 9 . Belpaire-Delthiou and co-workers reported a case of a patient with CMD and cortical dysplasia, a thin corpus callosum, and diffuse ventriculomegaly 10 . In our patient, for an unknown reason, none of these alterations were detected on MRI.…”

Section: Discussionmentioning

confidence: 99%

Merosin-positive congenital muscular dystrophy: neuroimaging findings

Matta

Gonsalves

2007

Arq. Neuro-Psiquiatr.

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-Congenital muscle dystrophy (CMD) is a heterogeneous group of autosomal recessive myopathies. It is known that CMD may affect the central nervous system (CNS). Some authors have shown that merosin-negative CMD patients may have encephalic metabolic disturbances. In order to study metabolic changes within the brain, the authors performed a magnetic resonance spectroscopy (MRS) study in a 1-year-old girl with merosin-positive CMD (MP-CMD). MRS of brain demonstrated that NAA/Cr ratio was decreased (1.52), while Cho/Cr ratio was increased (1.78). These findings suggest that metabolic changes in CNS can also be found in patients with MP-CMD.KEY WORDS: congenital muscle dystrophy, merosin, magnetic resonance.Distrofia muscular congênita merosina-positiva: achados de neuroimagem RESUMO -A distrofia muscular congênita (DMC) é um grupo heterogêneo de miopatias autossômicas recessivas que também podem afetar o sistema nervoso central (SNC). Alguns autores mostraram previamente que pacientes com DMC por deficiência da merosina podem apresentar alterações metabólicas no encé-falo. Com o objetivo de estudar as possíveis alterações metabólicas no SNC, os autores realizaram um estudo por ressonância magnética com espectroscopia em uma paciente de 1 ano com DMC sem deficiência da merosina. A razão NAA/Cr estava reduzida (1,52), enquanto que a razão Cho/Cr estava aumentada (1,78). Estes achados sugerem que alterações metabólicas no SNC também podem ser encontradas em pacientes com DMC merosina-positiva. PALAVRAS-CHAVE: distrofia muscular congênita, merosina, ressonância magnética.

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Congenital muscular dystrophy with central and peripheral nervous system involvement in a Belgian patient

Cited by 12 publications

References 11 publications

A Laminin-2, Dystroglycan, Utrophin Axis Is Required for Compartmentalization and Elongation of Myelin Segments

A Laminin-2, Dystroglycan, Utrophin Axis Is Required for Compartmentalization and Elongation of Myelin Segments

Targeted deletion of RIC8A in mouse neural precursor cells interferes with the development of the brain, eyes, and muscles

Merosin-positive congenital muscular dystrophy: neuroimaging findings

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