Cerebellar degeneration in Old English Sheepdogs

Abstract

Results of our study indicate that a slowly progressing late-onset form of cerebellar degeneration develops in OESD, and the mode of inheritance is by an autosomal recessive gene.

Canine Hereditary Ataxia in Old English Sheepdogs and Gordon Setters Is Associated with a Defect in the Autophagy Gene Encoding RAB24

“…Based on published pedigree analysis, a highly penetrant autosomal recessive mode of inheritance was assumed [20]. Preliminary linkage analysis revealed a region on CFA4 that had LOD scores of greater than 3 between markers FH3310 and FH2776.…”

“…Forms that primarily target the granular layer or produce ataxia without cell loss are also reported [12]–[18]. The canine form of the disease targets the cerebellum primarily and is most commonly inherited as a fully penetrant autosomal recessive trait [11], [13], [19], [20]. Onset may be neonatal [13], juvenile [21] or even older [22].…”

“…The genetic cause of three of these canine disorders has been described and include a mutation in SEL1L , a protein important in endoplasmic reticulum associated protein degradation in the Finnish hound [23], SPTBN2 gene encoding β-III spectrin in the beagle [24], and GRM1 , the metabotropic glutamate 1 receptor in the Coton de Tulear [25]. Autosomal recessive cerebellar degenerative disorders have been described in the Old English Sheepdog [20] and the Gordon Setter [26], [27]. The clinical phenotype is identical in both breeds with an onset of cerebellar ataxia first noted in juvenile to young adult dogs aged from six months to four years.…”

Canine Hereditary Ataxia

“…15,16,20,21 Juvenile onset of signs (between 2 and 12 months) with slow progression over several years has been described in Gordon Setters 13,22 and Old English Sheepdogs. 11 Onset of signs in Scottish Terriers usually occurs in this juvenile period, but in many dogs, progression is slow and signs stabilize resulting in a lifelong mild phenotype. 14,23 A more rapid progression has been reported in the English Bulldog 24 and Australian Kelpie.…”

“…Most of the familial syndromes reported thus far are inherited by an autosomal recessive mode including the Old English Sheepdog (OES), 11,12 Gordon Setter, 12,13 Scottish Terrier, 14 Finnish Hound, 15 Rhodesian Ridgeback, 16 Beagle, 17 and Australian Kelpie. 18 An X-linked disorder has been reported in the English Pointer.…”