Cerebellar ataxia (CA1)
A Cerebellar Ataxia (CA1) causing, autosomal recessive variant in the RALGAPA1 gene was... altro
Disease
A Cerebellar Ataxia (CA1) causing, autosomal recessive variant in the RALGAPA1 gene was identified in Belgian Shepherds. This gene encodes for the Ral GTPase-activating protein catalytic subunit ?1.
Affected puppies develop cerebellar dysfunction and are less active and alert compared to healthy littermates. The puppies show a wide-based stance and ataxic gait, exaggerated gait movements as well as stumbling, staggering and intention tremor of the head. Mild proprioceptive deficits can also be detected and the occulovestibular response seems to be normal to reduced. Clinical examinations of cerebrospinal fluid and blood remain unremarkable. CA1 has an early onset of around 4 weeks of age, when the activity and mobility of the puppies increases.
In some cases, the cerebellar symptoms were slowly progressive, requiring the puppies to be euthanized due to the severity of the symptoms at the age of 5 weeks. In other cases, the clinical signs were stable until the age of 11 week and the dogs reached adulthood without obvious worsening of the symptoms.
Affected puppies develop cerebellar dysfunction and are less active and alert compared to healthy littermates. The puppies show a wide-based stance and ataxic gait, exaggerated gait movements as well as stumbling, staggering and intention tremor of the head. Mild proprioceptive deficits can also be detected and the occulovestibular response seems to be normal to reduced. Clinical examinations of cerebrospinal fluid and blood remain unremarkable. CA1 has an early onset of around 4 weeks of age, when the activity and mobility of the puppies increases.
In some cases, the cerebellar symptoms were slowly progressive, requiring the puppies to be euthanized due to the severity of the symptoms at the age of 5 weeks. In other cases, the clinical signs were stable until the age of 11 week and the dogs reached adulthood without obvious worsening of the symptoms.
Breed
Belgian Shepherd Dog,
Groenendael,
Laekenois,
Malinois,
Tervueren
Heredity
autosomal recessive
Test duration
1-2 weeks after arrival of the sample in the lab
