Gangliosidosis Type 1 (GM1)
Gangliosidosis (GM1) is a deficiency in the enzyme beta-galactosidase which causes defects in the catabolism of gangliosides resulting in their accumulation in neuron lysosomes.
Age of Onset: Less than 7 months of age
Sex Predisposition: Any sex of animal can be affected
Clinical Course:
Clinical signs worsen over time
Clinical signs worsen over time
Clinical Signs:
Behavioral/Mental Awareness
Behavior changes
Hyperactivity
Movement
Ataxia
Dysmetria
Hypermetria
Head tremor
Spastic paraplegia or tetraplegia
Cranial Nerves
Visual impairment
Nystagmus
Other
Death
Behavioral/Mental Awareness
Behavior changes
Hyperactivity
Movement
Ataxia
Dysmetria
Hypermetria
Head tremor
Spastic paraplegia or tetraplegia
Cranial Nerves
Visual impairment
Nystagmus
Other
Death
Brain and spinal cord
Autosomal recessive inheritance - Missense point mutation (G to A transition)
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