RAB24-related cerebellar cortical abiotrophy is an autosomal recessive hereditary disorder described in the Old English Sheepdog and the Gordon Setter. The first signs appear between 6 months and 4 years of age, with progressive cerebellar ataxia, marked hypermetria, truncal sway and intention tremors, which may progress to severe gait disturbances. MRI can reveal cerebellar atrophy, and the reported lesions notably include a marked loss of Purkinje neurons. The genetic test allows identification of the associated RAB24 variant; it is also recommended in the Flemish Region breeding programme for the Airedale Terrier.
Transmission
Autosomal recessive
Breed
Setter Gordon, Old English Sheepdog, Airedale Terrier
