The metabolism of Tay-Sachs ganglioside: catabolic studies with lysosomal enzymes from normal and Tay-Sachs brain tissue

The metabolism of Tay-Sachs ganglioside: catabolic studies with lysosomal enzymes from normal and Tay-Sachs brain tissue.

The catabolism of Tay-Sachs ganglioside, N-acetylgalactosaminyl- (N-acetylneuraminosyl) -galactosylglucosylceramide, has been studied in lysosomal preparations from normal human brain and brain obtained at biopsy from Tay-Sachs patients. Utilizing Tay-Sachs ganglioside labeled with (14)C in the N-acetylgalactosaminyl portion or (3)H in the N-acetylneuraminosyl portion, the catabolism of Tay-Sac...

The catabolism of Tay-Sachs ganglioside in rat brain lysosomes.

The metabolism of Tay-Sachs ganglioside, Cer-Glc-Gal(NeuAc)-GalNAc (G& was investigated by using GNIZ specifically labeled with 3H in the NeuAc moiety or with W in GalNAc. There are two possible pathways for the catabolism of GM2 in brain, initiated via GMM-sialidase or GM2hexosaminidase. The products of the sialidase reaction were identified and are Cer-Glc-Gal-GalNAc and NeuAc; the hexosamini...

Tay-Sachs Disease

In 1881 British ophthalmologist Warren Tay made an unusual observation. He reported a cherry-red spot on the retina of a one-year-old patient, a patient who was also showing signs of progressive degeneration of the central nervous system [4] as manifested in the child?s physical and mental retardation [5]. This cherry-red spot is a characteristic that would eventually come to be associated with...

Late-onset Tay-Sachs disease.

We discuss the assessment and differential diagnoses of a young adult Hungarian man with a 1-year history of a progressive and symmetric amyotrophic lateral sclerosis-like syndrome, along with irregular action tremor and stimulus-sensitive myoclonus of the arms. MR scan of the brain showed isolated cerebellar atrophy and formal neuropsychometric testing identified significant subclinical defici...

Tay-Sachs disease: a centenary.