1.
Neurology
; 36(3): 438-40, 1986 Mar.
Article
in English
| MEDLINE
| ID: mdl-3081832
ABSTRACT
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.
Subject(s)
G(M2) Ganglioside/cerebrospinal fluid , Gangliosides/cerebrospinal fluid , Gangliosidoses/cerebrospinal fluid , Cerebral Cortex/pathology , Gangliosidoses/enzymology , Gangliosidoses/pathology , Hexosaminidases/metabolism , Humans , Infant , Leukocytes/enzymology , Male , Neurons/pathology
2.
J Neurochem
; 29(2): 351-3, 1977 Aug.
Article
in English
| MEDLINE
| ID: mdl-407331