Peer-reviewed veterinary case report
High GM1-ganglioside in cerebrospinal fluid helps diagnose
By Satoh, Hiroyuki et al.·Published in Journal of veterinary diagnostic investigation : official publication of the American Association of Veterinary Laboratory Diagnosticians, Inc·2004·Department of Veterinary Clinical Sciences, Japan·View original on PubMed →
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Original publication title: Increased concentration of GM1-ganglioside in cerebrospinal fluid in dogs with GM1- and GM2-gangliosidoses and its clinical application for diagnosis.
- Species:
- dog
Plain-English summary
A 5-month-old Shiba Inu was showing early signs of neurological problems and was diagnosed with GM1-gangliosidosis, a serious genetic disease. Tests of the dog's cerebrospinal fluid revealed high levels of GM1-ganglioside, which helped confirm the diagnosis. This method allows vets to diagnose this condition early, even without needing tissue samples. However, it's important to conduct further tests to distinguish between GM1- and GM2-gangliosidosis, as both can show similar elevated levels of GM1-ganglioside. Unfortunately, GM1-gangliosidosis is a severe condition with no cure, so supportive care is typically the focus.
People also search for: Shiba Inu neurological problems · GM1-gangliosidosis in dogs · dog cerebrospinal fluid test
Abstract
GM1- and GM2-gangliosidoses are lethal lysosomal diseases that are caused by a defect of acid hydrolases, resulting in the intralysosomal accumulation of the specific physiological substrates, GM1- and GM2-gangliosides, respectively. In the present study a method for the diagnosis of canine GM1-gangliosidosis was established using canine cerebrospinal fluid (CSF). The concentration of GM1-ganglioside in CSF was determined by thin-layer chromatography-enzyme immunostaining using biotin-conjugated cholera toxin B, which specifically binds with GM1-ganglioside. The concentration of CSF GM1-ganglioside was increased in Shiba dogs with GM1-gangliosidosis, and the increased level was approximately proportional to the age of the dogs. The concentration was high in the affected dog even at 5 months of age, when Shiba dogs with GM1-gangliosidosis first manifest neurologic signs. In addition, the concentration of CSF GM1-ganglioside in a dog with the GM2-gangliosidosis 0 variant (Sandhoff disease) was also 7 times the normal level. From these results it was concluded that this laboratory technique enables a definitive and early diagnosis of canine GM1-gangliosidosis even if tissues and organs cannot be obtained. However, because GM1-ganglioside can also be elevated in cases of GM2-gangliosidosis, it is necessary to assay for specific enzyme deficiencies to definitively separate GM1- from GM2-gangliosidosis.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/15152837/