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Research Article – GM2 gangliosidosis in a UK study of children with progressive neurodegeneration

A new research article by Professor Cox and his team was published online in November 2011 which looked at children diagnosed with GM2 gangliosidosis in the UK. The research is called “GM2 gangliosidosis in a UK study of children with progressive neurodegeneration: 73 cases reviewed“. It is written by Smith, N. J., Winstone, A. M., Stellitano, L., Cox, T. M. and Verity, C. M. and was published in Developmental Medicine & Child Neurology, Volume 54, Issue 2, pages 176–182, February 2012.

GM2 gangliosidoses refers to a group of lysosomal lipid storage disorders caused by mutations in at least 1 of 3 recessive genes: HEXA, HEXB, and GM2A. Normal products of all 3 genes are required for normal catabolism of the GM2 ganglioside substrate. Deficient activity of these enzymes leads to accumulation of the substrate inside neuronal lysosomes, leading to cell buy lamisil death.

Tay-Sachs is one of the GM2 gangliosidoses diseases, along with Sandhoff and GM2 activator protein deficiency.

The abstract for the study can be found by either clicking on the snap shot below or accessing the link here.

GM2 gangliosidosis in a UK study of children with progressive neurodegeneration: 73 cases reviewed

 
The study by Smith et al (2012) shows it is becoming increasingly important to diagnosis a child with one of the GM2 gangliosidoses diseases as early as possible so that any treatments which are developed can be implemented before disease progression is significant.
 
Source: SMITH, N. J., WINSTONE, A. M., STELLITANO, L., COX, T. M. and VERITY, C. M. (2012), GM2 gangliosidosis in a UK study of children with progressive neurodegeneration: 73 cases reviewed. Developmental Medicine & Child Neurology, 54: 176–182. doi: 10.1111/j.1469-8749.2011.04160.x

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