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Research Article – The Natural History of Juvenile or Subacute GM2 Gangliosidosis

In 2006 a research article called “The Natural History of Juvenile or Subacute GM2 Gangliosidosis: 21 New Cases and Literature Review of 134 Previously Reported” was published in the Official Journal of the American Academy of Pediatrics. The article was written by Maegawa GH, Stockley T, Tropak M, Banwell B, Blaser S, Kok F, Giugliani R, Mahuran D and Clarke JT.

The research article objectives

The objective of the study was to determine whether it was possible to “delineate the natural history of the condition (Juvenile or Subacute GM2 Gangliosidosis) and identify genotype-phenotype correlations that might be helpful in predicting the course of the disease in individual patients” (Maegawa et al, 2006).

You can download the a PDF of the research article by clicking on the image below or you can access an online version here.

The Natural History of Juvenile or Subacute GM2 Gangliosidosis

 

The research article conclusions

The conclusions of the study show that Juvenile GM2 gangliosidosis varies for each indiviudal “not only in terms of age of onset and clinical features but also with regard to the course of the disease. In general, the earlier the onset of symptoms, the more rapidly the disease progresses. The Tay-Sachs and Sandhoff variants differed somewhat in the frequency of specific clinical characteristics. Speech deterioration progressed more rapidly than gait abnormalities in both the Tay-Sachs variant and Sandhoff variant groups. Among patients with the Tay-Sachs variant, the HEXA genotype showed a significant correlation with the clinical course.” (Maegawa et al 2006).
 
To read an overview of Juvenile Tay-Sachs click here which provides a summary of this variant of the disease.
 
Source: Gustavo H. B. Maegawa, Tracy Stockley, Michael Tropak, Brenda Banwell, Susan Blaser, Fernando Kok, Roberto Giugliani, Don Mahuran and Joe T.R. Clarke (2006), The Natural History of Juvenile or Subacute GM2 Gangliosidosis: 21 New Cases and Literature Review of 134 Previously Reported, Pediatrics 2006;118;e1550; originally published online October 2, 2006; DOI: 10.1542/peds.2006-0588

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