GM1-gangliosidosis is a lysosomal storage disorder caused by a deficiency of beta-galactosidase. It is mainly characterized by progressive neurodegeneration and in its most severe infantile form it leads to death before the age of four. We have performed molecular analysis of five patients with the
An autopsy case of infantile GM1 gangliosidosis with adrenal calcification
β Scribed by Ritambhra Nada; Kirti Gupta; Sadhna Bhasin Lal; Rakesh Kumar Vasishta
- Publisher
- Springer
- Year
- 2011
- Tongue
- English
- Weight
- 391 KB
- Volume
- 26
- Category
- Article
- ISSN
- 0885-7490
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We have studied, by the polymerase chain reaction, the beta-galactosidase cDNA from several Italian patients with infantile GM1-gangliosidosis. One homozygote for a previously undiscovered G > A mutation at position 1479, causing an arginine to histidine change, was detected. The same mutation, in h
## Abstract We describe a 46βyearβold woman with adultβonset generalised dystonia and a severe speech disorder with an abnormal magnetic resonance imaging signal in the basal ganglia. A storage disease study demonstrated the presence of a GM1 gangliosidosis. This rare condition should be investigat