title: Muscular dystrophy: central nervous system alpha-dystroglycan glycosylation defects and brain malformation.
abstract: The authors describe the case of a patient affected with congenital muscular dystrophy with lack of muscle alpha-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 alpha-dystroglycan either in the frontal cortex or in the heterotopic nuclei, while a normal expression was found in the cerebellum. These results suggest that alpha-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 alpha-dystroglycan glycosylation defects, cortical migration defects, and sparing of the cerebellum.
authors.affiliation: Dipartimento di Scienze Neurologiche, Fondazione Ospedale Maggiore Policlinico, Mangiagalli, Regina Elena IRCCS, Centro Dino Ferrari University of Milan, Milan, Italy.
authors.forename: Gigliola
authors.initials: G
authors.lastname: Fagiolari
authors.forename: Anna
authors.initials: A
authors.lastname: Cappellini
authors.forename: Rachele
authors.initials: R
authors.lastname: Cagliani
authors.forename: Alessandro
authors.initials: A
authors.lastname: Prelle
authors.forename: Valeria
authors.initials: V
authors.lastname: Lucchini
authors.forename: Francesco
authors.initials: F
authors.lastname: Fortunato
authors.forename: Federica
authors.initials: F
authors.lastname: Locatelli
authors.forename: Veronica
authors.initials: V
authors.lastname: Crugnola
authors.forename: Giacomo Pietro
authors.initials: GP
authors.lastname: Comi
authors.forename: Nereo
authors.initials: N
authors.lastname: Bresolin
authors.forename: Maurizio
authors.initials: M
authors.lastname: Moggio
authors.forename: Costanza
authors.initials: C
authors.lastname: Lamperti
mesh_terms: D001921:Brain / Q000002:abnormalities* / Q000378:metabolism*; D049030:Dystroglycans / Q000378:metabolism*; D017809:Fatal Outcome; D006031:Glycosylation; D006801:Humans; D007150:Immunohistochemistry; D007223:Infant; D008297:Male; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology; D009136:Muscular Dystrophies / Q000235:genetics / Q000378:metabolism* / Q000473:pathology*; D017422:Sequence Analysis, DNA
chemical_list: D049030:Dystroglycans