Muscular dystrophy: Central nervous system α-dystroglycan glycosylation defects and brain malformation

Gigliola Fagiolari, Anna Cappellini, Rachele Cagliani, Alessandro Prelle, Valeria Lucchini, Francesco Fortunato, Federica Locatelli, Veronica Crugnola, Giacomo Pietro Comi, Nereo Bresolin, Maurizio Moggio, Costanza Lamperti

Research output: Contribution to journalArticlepeer-review


The authors describe the case of a patient affected with congenital muscular dystrophy with lack of muscle α-dystroglycan. Brain gross anatomy showed lissencephaly and pachygyria. Light microscopy showed heterotopias in white matter. The brain stem and cerebellum were normal. They found no expression of α-dystroglycan either in the frontal cortex or in the heterotopic nuclei, while a normal expression was found in the cerebellum. These results suggest that α-dystroglycan glycosylation defects may account for both the muscle disease and the brain supratentorial malformation in our patient. The authors did not identify any mutations in the genes most frequently related to these syndromes. Therefore, this case suggests that a new gene may be associated with congenital muscular dystrophy with α-dystroglycan glycosylation defects, cortical migration defects, and sparing of the cerebellum.

Original languageEnglish
Pages (from-to)312-320
Number of pages9
JournalJournal of Child Neurology
Issue number3
Publication statusPublished - Mar 2010


  • α-dystroglycan
  • Congenital muscular dystrophies
  • Glycosylation
  • Lissencephaly

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health


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