Magnetic resonance imaging findings and novel mutations in GM1 gangliosidosis.
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.
Gururaj
Aithala
A
Department of Paediatrics, Faculty of Medicine and Health Sciences, United Arab Emirates University and Tawam Hospital, Al Ain, UAE. guruaja@uaeu.ac.ae
Sztriha
László
L
Hertecant
Josef
J
Johansen
Johan G
JG
Georgiou
Theodoros
T
Campos
Yvan
Y
Drousiotou
Anthi
A
d'Azzo
Alessandra
A
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
D001616:beta-Galactosidase