Gangliosidosis GM2 type II / Sandhoff disease (HEXB-related) - Cat

GM2 gangliosidosis type II in cats

This genetic test analyses the HEXB variant c.1467_1491inv25, which causes Gangliosidosis GM2 type II. The condition is also known as GM2 gangliosidosis type II or Sandhoff disease. HEXB encodes the beta subunit of hexosaminidase, a lysosomal enzyme needed for breakdown of GM2 gangliosides.

When this enzyme does not function properly, GM2 gangliosides accumulate in nervous tissue. Affected cats develop progressive neurological signs, often including tremors, ataxia, weakness, coordination problems, behavioural or movement changes and eventually severe deterioration.

Practical value of this test

• Determines whether the cat is clear, a carrier or genetically affected for the tested HEXB variant.
• Helps breeders avoid carrier combinations and prevent affected kittens.
• Provides clear genetic information in progressive neurological signs or when GM2/Sandhoff is relevant in the line.

The trait follows an autosomal recessive mode of inheritance. Cats with two copies of the variant are genetically affected; carriers can pass the variant to offspring.