ArticleJournal of neuropathology and experimental neurology2014
Clinical, pathologic, and mutational spectrum of dystroglycanopathy caused by LARGE mutations.
Article in Journal of neuropathology and experimental neurology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
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Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it, 51 citations in OpenAlex.
- Neuropathology of genetically defined malformations of cortical development-A systematic literature review.Neuropathology and applied neurobiology · 2021Pooled it
- Pathogenic mechanisms and clinical insights intoJournal of neuromuscular diseases · 2025Article
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- Deep Mutational Scanning in Disease-related Genes with Saturation Mutagenesis-Reinforced Functional Assays (SMuRF).bioRxiv : the preprint server for biology · 2024Article
- Alteration of LARGE1 abundance in patients and a mouse model of 5q-associated spinal muscular atrophy.Acta neuropathologica · 2024Article
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- Human embryoid bodies as a 3D tissue model of the extracellular matrix and α-dystroglycanopathies.Disease models & mechanisms · 2020Article
- Somatic copy number alterations are associated with EGFR amplification and shortened survival in patients with primary glioblastoma.Neoplasia (New York, N.Y.) · 2020Article
- Value of muscle magnetic resonance imaging in the differential diagnosis of muscular dystrophies related to the dystrophin-glycoprotein complex.Orphanet journal of rare diseases · 2019Article
- Cortical Malformations: Lessons in Human Brain Development.Frontiers in cellular neuroscience · 2019Review
- The roles of dystroglycan in the nervous system: insights from animal models of muscular dystrophy.Disease models & mechanisms · 2018Review
- Molecular Therapies for Muscular Dystrophies.Current treatment options in neurology · 2018Review
- The genomic landscape of African populations in health and disease.Human molecular genetics · 2017Review
- Malformations of cortical development.Annals of neurology · 2016Review
- Article
- Behavioral Responses in Animal Model of Congenital Muscular Dystrophy 1D.Molecular neurobiology · 2016Article
- Matriglycan: a novel polysaccharide that links dystroglycan to the basement membrane.Glycobiology · 2015Review
- Article
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Authors and funding
18 authors at 9 institutions in 2 countries.
Funding
Abstract
Dystroglycanopathies are a subtype of congenital muscular dystrophy of varying severity that can affect the brain and eyes, ranging from Walker-Warburg syndrome with severe brain malformation to milder congenital muscular dystrophy presentations with affected or normal cognition and later onset. Mutations in dystroglycanopathy genes affect a specific glycoepitope on α-dystroglycan; of the 14 genes implicated to date, LARGE encodes the glycosyltransferase that adds the final xylose and glucuronic acid, allowing α-dystroglycan to bind ligands, including laminin 211 and neurexin. Only 11 patients with LARGE mutations have been reported. We report the clinical, neuroimaging, and genetic features of 4 additional patients. We confirm that gross deletions and rearrangements are important mutational mechanisms for LARGE. The brain abnormalities overshadowed the initially mild muscle phenotype in all 4 patients. We present the first comprehensive postnatal neuropathology of the brain, spinal cord, and eyes of a patient with a homozygous LARGE mutation at Cys443. In this patient, polymicrogyria was the predominant cortical malformation; densely festooned polymicrogyria were overlaid by a continuous agyric surface. In view of the severity of these abnormalities, Cys443 may be a functionally important residue in the LARGE protein, whereas the mutation p.Glu509Lys of Patient 1 in this study may confer a milder phenotype. Overall, these results expand the clinical and genetic spectrum of dystroglycanopathy.
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