Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease

Neurology
B CormandA-E Lehesjoki

Abstract

Three rare autosomal recessive disorders share the combination of congenital muscular dystrophy and brain malformations including a neuronal migration defect: muscle-eye-brain disease (MEB), Walker-Warburg syndrome (WWS), and Fukuyama congenital muscular dystrophy (FCMD). In addition, ocular abnormalities are a constant feature in MEB and WWS. Lack of consistent ocular abnormalities in FCMD has allowed a clear clinical demarcation of this syndrome, whereas the phenotypic distinction between MEB and WWS has remained controversial. The MEB gene is located on chromosome 1p32-p34. To establish distinguishing diagnostic criteria for MEB and WWS and to determine whether MEB and WWS are allelic disorders. The authors undertook clinical characterization followed by linkage analysis in 19 MEB/WWS families with 29 affected individuals. With use of clinical diagnostic criteria based on Finnish patients with MEB, each patient was categorized as having either MEB or WWS. A linkage and haplotype analysis using 10 markers spanning the MEB locus was performed on the entire family resource. Patients in 11 families were classified as having MEB and in 8 families as WWS. Strong evidence in favor of genetic heterogeneity was obtained in the 19 fam...Continue Reading

Citations

Aug 20, 2010·Journal of Orthopaedic Science : Official Journal of the Japanese Orthopaedic Association·Masashi TakasoSeiji Ohtori
Aug 25, 2006·Current Neurology and Neuroscience Reports·Jenny Carmichael, Christopher Woods
Oct 22, 2003·Current Opinion in Structural Biology·Tobias WillerSabine Strahl
Jun 22, 2002·Current Opinion in Genetics & Development·Eric C Olson, Christopher A Walsh
Jun 22, 2002·Current Opinion in Genetics & Development·Madeleine Durbeej, Kevin P Campbell
Jun 6, 2003·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Cecilia Jiménez-MallebreraFrancesco Muntoni
May 17, 2005·Journal of Medical Genetics·J van ReeuwijkH van Bokhoven
Aug 5, 2006·Orphanet Journal of Rare Diseases·Jiri Vajsar, Harry Schachter
Jul 29, 2005·The Journal of Neuroscience : the Official Journal of the Society for Neuroscience·Agnieszka NiewmierzyckaLouis F Reichardt
Dec 31, 2003·Proceedings of the National Academy of Sciences of the United States of America·Hiroshi ManyaTamao Endo
Jun 24, 2004·Nature Reviews. Genetics·Han G Brunner, Marc A van Driel
Apr 1, 2012·Retinal Cases & Brief Reports·Mehnaz KhanFranco M Recchia
Sep 16, 2004·Current Opinion in Neurology·Göknur Haliloğlu, Haluk Topaloğlu
Aug 20, 2003·Human Molecular Genetics·Prabhjit K Grewal, Jane E Hewitt
Nov 1, 2009·Expert Opinion on Medical Diagnostics·Carmen Navarro, Susana Teijeira
Feb 26, 2016·Human Molecular Genetics·Mingchu XuRui Chen
Aug 23, 2012·Seminars in Fetal & Neonatal Medicine·Jin HuangKwong Wai Choy
Nov 14, 2012·Journal of Neuropathology and Experimental Neurology·Timothy D MyshrallRobert F Hevner
Sep 21, 2007·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Serap TeberGülhis Deda
Jan 8, 2005·American Journal of Medical Genetics. Part a·Sophie C CurrierChristopher A Walsh
Mar 1, 2005·Clinical Genetics·J van ReeuwijkH van Bokhoven
Jul 6, 2004·Annals of Neurology·Virginie S VervoortAnand K Srivastava
Jul 23, 2003·Genesis : the Journal of Genetics and Development·Ichiko NishijimaAllan Bradley
Dec 11, 2008·Annals of Neurology·Emma ClementFrancesco Muntoni
Dec 13, 2006·Prenatal Diagnosis·Burcu BalciPervin Dinçer
Feb 13, 2013·American Journal of Medical Genetics. Part a·Simone FunkeEva Morava
Feb 24, 2005·Neuromuscular Disorders : NMD·Ronald D Cohn
Jul 9, 2005·Clinica Chimica Acta; International Journal of Clinical Chemistry·Michela GuglieriGiacomo P Comi
Nov 16, 2002·Neurologic Clinics·Kathryn R Wagner
Jan 28, 2004·Neurologic Clinics·Jack E RiggsSydney S Schochet
Jan 28, 2004·Neurologic Clinics·Katherine D Mathews
Sep 18, 2015·BioMed Research International·Francesca SciandraAndrea Brancaccio
Mar 31, 2011·Molecular and Cellular Neurosciences·Hisatomo TakahashiHiroshi Takahashi
Apr 15, 2016·American Journal of Medical Genetics. Part a·Hülya KayseriliRasim Özgür Rosti
Jan 13, 2006·Developmental Biology·Andrea LunardiLuciana Dente
Jun 23, 2009·Biochimica Et Biophysica Acta·Jane E Hewitt
Nov 14, 2006·Biochimica Et Biophysica Acta·Matthew T Lisi, Ronald D Cohn

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