title: Magnetic resonance imaging findings and novel mutations in GM1 gangliosidosis.
abstract: Two unrelated children and their siblings of Arab origin were diagnosed as having GM1 gangliosidosis on the basis of clinical features and markedly low levels of beta-galactosidase. The T2-weighted magnetic resonance images of the brain revealed certain characteristic features, including delayed myelination and abnormal appearance of the subcortical white matter, internal capsule, and basal ganglia. Their mutation analysis showed two novel mutations, which have not been described in an Arabic population.
authors.affiliation: Department of Paediatrics, Faculty of Medicine and Health Sciences, United Arab Emirates University and Tawam Hospital, Al Ain, UAE. guruaja@uaeu.ac.ae
authors.forename: Aithala
authors.initials: A
authors.lastname: Gururaj
authors.forename: László
authors.initials: L
authors.lastname: Sztriha
authors.forename: Josef
authors.initials: J
authors.lastname: Hertecant
authors.forename: Johan G
authors.initials: JG
authors.lastname: Johansen
authors.forename: Theodoros
authors.initials: T
authors.lastname: Georgiou
authors.forename: Yvan
authors.initials: Y
authors.lastname: Campos
authors.forename: Anthi
authors.initials: A
authors.lastname: Drousiotou
authors.forename: Alessandra
authors.initials: A
authors.lastname: d'Azzo
mesh_terms: D018912:Arabs; D001479:Basal Ganglia; D001921:Brain / Q000473:pathology*; D002675:Child, Preschool; D003241:Consanguinity; D004252:DNA Mutational Analysis; D003711:Demyelinating Diseases / Q000209:etiology / Q000235:genetics; D005260:Female; D016537:Gangliosidosis, GM1 / Q000235:genetics* / Q000473:pathology*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D010375:Pedigree; D035781:Siblings; D001616:beta-Galactosidase
chemical_list: D001616:beta-Galactosidase