Adult-onset GM2 gangliosidosis. Seizures, dementia, and normal pressure hydrocephalus associated with glycolipid storage in the brain and arachnoid granulation
O'neill, B.; Butler, A.B.; Young, E.; Falk, P.M.; Bass, N.H.
Neurology 28(11): 1117-1123
1978
ISSN/ISBN: 0028-3878 PMID: 568730 Document Number: 134069
Ultrastructural and biochemical studies were performed on biopsy and postmortem tissue from a 22 yr old woman with generalized seizures and intellectual and behavioral deterioration. Her symptoms began at age 18 and, during the last year of life, normal-pressure hydrocephalus was demonstrated. Abnormal accumulation of granular periodic acid-Schiff (PAS)-positive material was found in the cytoplasm of cells of both brain and spleen. Numerous membrane-bound, multilamellar cytoplasmic inclusions were seen in cells of the brain, spleen and arachnoid granulation. Tissue concentrations of lipid-bound sialic acid were 38% greater than age-matched control specimens. A marked increase of only the GM2 ganglioside was demonstrated by TLC. An 8-fold increase in the quantity of GM2 ganglioside was found in the cerebral cortex. Total hexosaminidase activity was increased 85%, associated with an increase in the activity of both hexosaminidase A and B, resembling an adult onset form of the AB variant of GM2 gangliosidosis.