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GM1 - Gangliosidosis Overview

GM1 - Gangliosidosis
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Category: Neurologic (Associated with the Brain, Spinal and Nerves)

Gene: GLB 1

Variant Detected: Base Substitution G>C

Severity: Scale 5 is the most extreme in severity. It comprises rapidly fatal diseases that may also cause a significant decrease in the quality of life.

Mode of Inheritance: Autosomal Recessive

Test Overview: A fatal neurodegenerative disease which is caused by a deficiency of the enzyme lysosomal ?-D-galactosidase. Was first described in Siamese cats.Onset of clinical neurological disease in affected cats occurs at approximately 3.5 months of age with a fine head or limb tremor. GM1 mutant cats have progressive dysmetria and ambulatory difficulties, with blindness and epileptiform seizures in the terminal disease stage at 9–10 months of age.

Research Citation(s): Mol Genet Metab. 2008 Jun;94(2):212-21

Associated Breed(s): Burmese,  Domestic Short Hair,  Korat,  Siamese,