-transparent.png){kind=logo}
Clinical and neuropathological studies of a case of AB variant GM2-gangliosidosis have been presented. The patient was a 14 months old black female infant who had "black cherry spot" in the retinas. The total activities of beta-galactosidase and N-acetyl-beta-hexosaminidase, as well as the proportion of hexosaminidase A and B components in her serum and leukocytes were normal when the assays were carried out with artificial fluorogenic substrate. Diagnosis of GM2-gangliosidosis AB variant was established by an abnormal increase of GM2-ganglioside in the biopsied brain tissue, similar to classical Tay-Sachs disease. Her clinical manifestation appeared to be similar but somewhat milder than those of classical Tay-Sachs disease. Light microscopic features of the cerebral biopsy were also closely similar to Tay-Sachs disease and Sandhoff disease but gliosis and neuronal loss were less pronounced. Electron microscopic study revealed numerous membranous cytoplasmic bodies (MCB) and zebra bodies in neurons. In addition, varieties of large intracytoplasmic inclusions in astrocytes, a feature distinctly different from classical Tay-Sachs disease, were observed. Numerous cytoplasmic inclusions were also present in oligodendroglia, pericytes and microglial cells.
C M de Baecque, and
K Suzuki, and
I Rapin, and
A B Johnson, and
D L Whethers
January 1986,
Annals of neurology,
C M de Baecque, and
K Suzuki, and
I Rapin, and
A B Johnson, and
D L Whethers
July 1981,
Biochemical and biophysical research communications,
C M de Baecque, and
K Suzuki, and
I Rapin, and
A B Johnson, and
D L Whethers
January 1998,
Ryoikibetsu shokogun shirizu,
C M de Baecque, and
K Suzuki, and
I Rapin, and
A B Johnson, and
D L Whethers
May 2023,
International journal of molecular sciences,
C M de Baecque, and
K Suzuki, and
I Rapin, and
A B Johnson, and
D L Whethers
January 1980,
Acta neuropathologica,
C M de Baecque, and
K Suzuki, and
I Rapin, and
A B Johnson, and
D L Whethers
March 1986,
Neurology,
C M de Baecque, and
K Suzuki, and
I Rapin, and
A B Johnson, and
D L Whethers
July 2016,
BMC pediatrics,
C M de Baecque, and
K Suzuki, and
I Rapin, and
A B Johnson, and
D L Whethers
January 2023,
Frontiers in pediatrics,
C M de Baecque, and
K Suzuki, and
I Rapin, and
A B Johnson, and
D L Whethers
March 1982,
Pediatric research,
C M de Baecque, and
K Suzuki, and
I Rapin, and
A B Johnson, and
D L Whethers
November 1996,
American journal of human genetics,
