Neurodegenerative disease affecting peripheral sensory and autonomic neurons
Symptoms Loss of sensitivity to pain starting on the extremities of the limbs, particularly on the hind legs, and gradually moving up the leg over time, tendency to lick and chew the tips of the paws up to and including the self-amputation of phalanges and claws, chronic progressive pelvic limb gait abnormalities.
Gene involved RETREG1
Mutation tested c.656C>T
Transmission mode : Autosomal recessive Age of onset : Between 3 and 18 months old
Publication : Letko et al. (2024). A RETREG1 variant is associated with hereditary sensory and autonomic neuropathy with acral self-mutilation in purebred German Spitz.