/ 0

Store

Cerebellar Ataxia (Spinone Italiano Type) - SINGLE ASSAY TEST - Blood or Tissue Samples ONLY

$55

(ONLINE PRICE)

Order

Test Overview:

Cerebellar Ataxia (Spinone Italiano type) is an inherited neurological disease affecting Italian spinoni. Affected dogs present around 4 months of age with progressive neurological dysfunction primarily due to nerve cell degeneration of a part of the brain known as the Cerebellum, which plays an important role in coordinated movement. Clinical signs include uncoordinated movement (ataxia), wide-based stance, high-stepping gait, abnormal eye movements, poor balance, loss of menace response (a type of blink reflex), and head tremors which become more severe over time. Though the speed of progression is variable, affected dogs may be unable to stand by one year of age and are often euthanized due to quality-of-life concerns.

Category:

Haemolymphatic - Associated with the blood and lymph

Gene:

ITPR1

Variant Detected:

chr20:12880740-12880742 (canFam3): large indel, variable repeat expansion

Severity:

It is a trait and so is tested based on preference, not usually for health concerns.

Mode of Inheritance:

Dominant with Variable Expressivity

Research Citation(s):

Forman OP, De Risio L, Matiasek K, Platt S, Mellersh C. Spinocerebellar ataxia in the Italian Spinone dog is associated with an intronic GAA repeat expansion in ITPR1. Mamm Genome. 2015 Feb;26(1-2):108-17. doi: 10.1007/s00335-014-9547-6. Epub 2014 Oct 30. [PubMed: 25354648] Wheeler S, Rusbridge C. Neurological syndrome in Italian spinones. Vet Rec. 1996 Mar 2;138(9):216. [PubMed: 8686161]

Associated Breed(s):

Italian Spinone,

##parent-placeholder-19bd1503d9bad449304cc6b4e977b74bac6cc771##