Introduction A considerable body of knowledge has been accumulated in recent years concerning severe genetic neurological diseases such as Tay-Sachs, Sandhoffs disease, juvenile GM2 gangliosidosis, juvenile GM1 gangliosidosis, chronic Gaucher's disease, and Fabry's disease. Those are in effect genetic sphingolipid-oses (O'Brien et al., 1972). The detection of both homozygotes and heterozygotes ...

The mitochondrial function in skeletal muscle was investigated in skeletal muscle biopsies of 26 patients with sporadic amyotrophic lateral sclerosis (ALS) and compared with investigations of 28 age-matched control muscle samples and biopsies of 6 patients with spinal muscular atrophy (SMA) and two patients with Tay-Sachs disease. In comparison to the control, SMA and Tay-Sachs biopsies, we obs...

Mouse models of the GM2 gangliosidoses [Tay-Sachs, late onset Tay-Sachs (LOTS), Sandhoff] and GM1 gangliosidosis have been studied to determine whether there is a common neuro-inflammatory component to these disorders. During the disease course, we have: (i) examined the expression of a number of inflammatory markers in the CNS, including MHC class II, CD68, CD11b (CR3), 7/4, F4/80, nitrotyrosi...

The two major isozymes of N-acetylhexosaminidase, namely hexosaminidases A and B were quantitatively determined in tissues and biological fluids of both normal individuals and Tay-Sachs patients. The determination was carried out by two sensitive immunoassays:radial immunodiffusion, using chromogenic substrate, and radioimmunoassay, which were developed in this study. For this purpose [correcte...

The lysosomal enzyme, @-hexosaminidase, is composed of two chains, a and 8. In Tay-Sachs disease, mutations in the gene encoding the a-chain produce a @-hexosaminidase deficiency that results in the storage of its natural substrate, GMz ganglioside. To obtain the background information for the eventual identification of the mutational errors in Tay-Sachs disease and to determine possible relati...

BACKGROUND GM2 gangliosidosis-AB variants a rare autosomal recessive neurodegenerative disorder occurring due to deficiency of GM2 activator protein resulting from the mutation in GM2A gene. Only seven mutations in nine cases have been reported from different population except India. CASE PRESENTATION Present case is a one year old male born to 3rd degree consanguineous Indian parents from Ma...

GM2 gangliosidosis, a subset of lysosomal storage disorders, is caused by a deficiency of the glycohydrolase, β-N-acetylhexosaminidase, and includes the closely related Tay-Sachs and Sandhoff diseases. The enzyme deficiency prevents the normal, stepwise degradation of ganglioside, which accumulates unchecked within the cellular lysosome, particularly in neurons. As a result, individuals with GM...

Waren Tay was born in 1843; he qualified in medicine at the London Hospital and was appointed to it as a surgeon. He was also on the staff of the Royal London Ophthalmic Hospital at Moorfields and City Road, and the North East Hospital for Children, which became Queen Elizabeth Hospital, Hackney Road. A versatile man, he was also dermatologist to the Hospital for Diseases of the Skin. In 1881 h...

Sphingolipidoses are human metabolic storage disorders characterized by the accumulation of harmful quantities of glycosphingolipids and phosphosphingolipids. These lipids have in common a hydrophobic portion of their structure called ceramide. In glycosphingolipids, various oligosaccharides are linked to ceramide through glycosidic bonds. An example is glucocerebroside, composed of ceramide an...