Spinal dural ossification causing neurological signs in a cat

A six-year-old Ragdoll cat underwent examination due to a six-month history of slowly progressive gait abnormalities. The cat presented with an ambulatory tetraparesis with a neurological examination indicating a C1-T2 myelopathy. Radiographs of the spine showed a radiopaque irregular line ventrally in the vertebral canal dorsal to vertebral bodies C3-C5. In this area, magnetic resonance imaging revealed an intradural extramedullary/extradural lesion compressing the spinal cord. The spinal cord was surgically decompressed. The cause of the spinal cord compression was dural ossification, a diagnosis confirmed by histopathological examination of the surgically dissected sample of dura mater. The cat gradually improved after the procedure and was ambulating better than prior to the surgery. The cat’s locomotion later worsened again due to ossified plaques in the dura causing spinal cord compression on the same cervical area as before. Oral prednisolone treatment provided temporary remission. Ten months after surgery, the cat was euthanized due to severe worsening of gait abnormalities, non-ambulatory tetraparesis. Necropsy confirmed spinal cord compression and secondary degenerative changes in the spinal cord on cervical and lumbar areas caused by dural ossification. To our knowledge, this is the first report of spinal dural ossification in a cat. The reported cat showed neurological signs associated with these dural changes. Dural ossification should be considered in the differential diagnosis of compressive spinal cord disorders in cats

A SEL1L Mutation Links a Canine Progressive Early-Onset Cerebellar Ataxia to the Endoplasmic Reticulum-Associated Protein Degradation (ERAD) Machinery

Peer reviewe

Genetic studies.

<p>(A) A Manhattan plot of case-control genome-wide association test performed using 13 cases and 7 unaffected sibling-controls. (B) Results of the family-based testing on the disease associated chromosome 8. Plotted are single-point linkage analysis LOD scores, association test p-values and joint analysis p-values. (C) Genotypes at the disease associated locus on CFA8. All cases share a 1.5 Mb homozygous block, and within this block BICF2P948919 shows complete segregation with the disease. (D) A schematic representation of the seven genes found on the 1.5 Mb block and of the <i>SEL1L</i> gene structure. <i>SEL1L</i> exons are marked with black boxes and red denotes the untranslated regions (UTRs). BICF2P948919 is located on second <i>SEL1L</i> intron and the c.1972T>C mutation on exon 19. (E) Chromatograms of the c.1972T>C mutation in an affected, a carrier and a wild-type dog.</p

SEL1L protein structure and partial sequence alignment.

<p>(A) A Schematic representation of the SEL1L protein, which shows the multi-modular protein structure. The p.Ser658Pro mutation hits one of the C-terminal Sel1-repeats. (B) SEL1L amino acid sequence alignment. Position of the mutation is conserved in all aligned species except for <i>C. elegans</i> and yeast. The Hrd3-motif, which is positioned five residues downstream from the Ser658, shows conservation across all aligned species.</p

Brain MRI scans.

<p>Sagittal midline T2W brain MRI images of a normal and affected Finnish Hounds. (A) A control dog with normal cerebellum (arrow). (B) An affected dog that has smaller cerebellar size and increased cerebrospinal fluid space (white) between the cerebellum and the occipital bone ventrally (arrow). (C) An affected dog that shows reduced cerebellar size and increase in the fluid filled space in the area of the fourth ventricle (arrow). (D) Another affected dog that has reduced cerebellar size and increased fluid filled spaces between the cerebellar folia (arrows).</p

A summary of clinical and pathological examinations in Finnish Hound puppies.

<p>A summary of clinical and pathological examinations in Finnish Hound puppies.</p

Finnish Hound ataxia pedigree.

<p>Pedigree shows those affected litters that were used in the study. Disease segregation is consistent with autosomal recessive mode of inheritance as all affected dogs are born from healthy parents and both sexes are affected. The proportion of affected puppies is 29%, which is close to expected 25%. Denoted are the clinically and pathologically examined cases and the dogs that were genotyped for genome-wide analyses. The numbering of litters and puppies refers to the numbering used in <a href="http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1002759#pgen-1002759-t001" target="_blank">Table 1</a>. *In this one litter, the total number of offspring was unknown.</p