Hereditary ataxia (HA)

General description

Hereditary ataxia (HA) is a progressive disease, clinical signs are hypermetria, loss of balance, incoordination of gait and intention tremor, which later progress to severe gait disturbances. In Old English Sheepdogs and Gordon Setters, affected dogs will show first indications of cerebellar neurodegeneration at an age between six months and up to four years; in Norwegian Elkhounds and Norwegian Buhund symptoms develop at the age of 4 to 20 weeks, while affected Australian Shepherds and Miniature American Shepherds show symptoms at the age between 4 and 19 months.

Breeds

Australian Shepherd, Gordon Setter, Miniature American Shepherd, Norwegian Buhund, Norwegian Elkhound , Old English Sheepdog

Hereditary Ataxia (HA) - Old English Sheepdog, Gordon Setter

In the breeds Old English Sheepdog and Gordon Setter first symptoms appear within the age of 5 months to 4 years. A variant in the RAB24 gene was identified to cause HA in these breeds.

Hereditary Ataxia (HA) - Australian Shepherd

In the breed Australian Shepherd and Miniature American Shepherd, first signs like hypermetria, bunny-hopping and a wobbly and stiff gait on the pelvic limbs can be seen between 4 and 19 months. These uncoordinated movements and spasticity are worsening progressively and leading to inability to walk at the age of 30 to 44 months. Brain histology results revealed diffuse demyelination. A mutation in the PNPLA8 gene was identified to cause HA in this breed.

Hereditary Ataxia (HA) - Norwegian Elkhound

A mutation in the HACE1 gene causes HA in the breed Norwegian Elkhound. Affected puppies show clinical symptoms at an age between 4 and 20 weeks. The puppies slipped easily on the ground, occasionally fell over and had a hanging tail atypical for the breed.

Hereditary Ataxia (HA) - Norwegian Buhund

A mutation in the KCNIP4 gene causes HA in the breed Norwegian Buhund. Affected puppies show clinical symptoms at an age between 4 and 20 weeks. The puppies slipped easily on the ground, occasionally fell over and had a hanging tail atypical for the breed.