Adult onset GM2 gangliosidosis. Seizures, dementia and normal pressure hydrocephalus associated with glycolipid storage in the brain and arachnoid granulation

Brian Patrick O'Neill, A. B. Butler, E. Young

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20 Citations (Scopus)

Abstract

Ultrastructural and biochemical studies were performed on biopsy and postmortem tissue from a 22 year 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 thin layer chromatography. An eightfold 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.

Original languageEnglish (US)
Pages (from-to)1117-1123
Number of pages7
JournalNeurology
Volume28
Issue number11
StatePublished - 1978
Externally publishedYes

Fingerprint

GM2 Gangliosidosis
G(M2) Ganglioside
Normal Pressure Hydrocephalus
Arachnoid
Glycolipids
AB Variant Tay-Sachs Disease
Dementia
Seizures
Hexosaminidase B
Spleen
Hexosaminidase A
Hexosaminidases
Periodic Acid
Inclusion Bodies
Brain
N-Acetylneuraminic Acid
Thin Layer Chromatography
Cerebral Cortex
Cytoplasm
Lipids

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

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title = "Adult onset GM2 gangliosidosis. Seizures, dementia and normal pressure hydrocephalus associated with glycolipid storage in the brain and arachnoid granulation",
abstract = "Ultrastructural and biochemical studies were performed on biopsy and postmortem tissue from a 22 year 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 thin layer chromatography. An eightfold 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.",
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AU - Butler, A. B.

AU - Young, E.

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N2 - Ultrastructural and biochemical studies were performed on biopsy and postmortem tissue from a 22 year 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 thin layer chromatography. An eightfold 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.

AB - Ultrastructural and biochemical studies were performed on biopsy and postmortem tissue from a 22 year 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 thin layer chromatography. An eightfold 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.

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