Muscular dystrophy: central nervous system alpha-dystroglycan glycosylation defects and brain malformation.
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.
Fagiolari
Gigliola
G
Dipartimento di Scienze Neurologiche, Fondazione Ospedale Maggiore Policlinico, Mangiagalli, Regina Elena IRCCS, Centro Dino Ferrari University of Milan, Milan, Italy.
Cappellini
Anna
A
Cagliani
Rachele
R
Prelle
Alessandro
A
Lucchini
Valeria
V
Fortunato
Francesco
F
Locatelli
Federica
F
Crugnola
Veronica
V
Comi
Giacomo Pietro
GP
Bresolin
Nereo
N
Moggio
Maurizio
M
Lamperti
Costanza
C
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
D049030:Dystroglycans