Startle Hyperekplexia (Wolfhound Type)

Category:

Nervous system / Neurologic - Associated with the brain, spinal cord and nerves

Gene:

Solute carrier family 6 member 5 (SLC6A5) on Chromosome 21

Variant Detected:

Nucleotide Deletion CanFam 3.1 chr21:42583623-42587925del (4203 bp deletion)

Severity:

Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.

Mode of Inheritance:

Autosomal Recessive

Research Citation(s):

Gill, JL. et al. Startle disease in Irish wolfhounds associated with a microdeletion in the glycine transporter GlyT2 gene. (2011) Neurobiology of Disease 43;184–189.

Associated Breed(s):

Irish Wolfhound, Mixed Breed,