AB variant GM2 gangliosidosis: cerebrospinal fluid and neuropathologic characteristics.
A child with AB variant GM2 gangliosidosis who had progressive intellectual deterioration and seizures commencing at the age of 12 months is described. Neuronal loss, and neuronal and astrocytic inclusions characteristic of the gangliosidoses, were seen on cortical biopsy. GM2 ganglioside was detected in the CSF. As CNS ganglioside accumulation in this condition occurs in the presence of normal leukocyte hexosaminidase A and B levels, spinal fluid assay for GM2 ganglioside may serve as a valuable aid in diagnosis.
Kotagal
S
S
Wenger
D A
DA
Alcala
H
H
Gomez
C
C
Horenstein
S
S
D002540:Cerebral Cortex / Q000473:pathology; D005678:G(M2) Ganglioside / Q000134:cerebrospinal fluid*; D005732:Gangliosides / Q000134:cerebrospinal fluid*; D005733:Gangliosidoses / Q000134:cerebrospinal fluid* / Q000201:enzymology / Q000473:pathology; D006596:Hexosaminidases / Q000378:metabolism; D006801:Humans; D007223:Infant; D007962:Leukocytes / Q000201:enzymology; D008297:Male; D009474:Neurons / Q000473:pathology
D005732:Gangliosides; D005678:G(M2) Ganglioside; D006596:Hexosaminidases