Spastic paresis

Phene ID

1619

Name

Spastic paresis

Phene Name

posterior paralysis; hind-limb paralysis

OMIA ID

928

Species ID

9913

Characterised

No

Characterised Year

N/A

Leipold et al. (1967) concluded that the "pattern of occurrence suggested recessive inheritance" but had insufficient evidence for a firm conclusion. Hanset et al. (1993) fitted a single-locus model to more extensive data, but the model was not sufficient to explain all occurrences.

In an imaginative approach to investigating an intractable disorder, Pariset et al. (2013) compared gene expression in the most likely candidate tissue (the spinal cord from C6 to L6) between affected and normal animals, using RNA from two pools (of 4 affecteds and 4 normals) on a 15k cDNA expression array that includes cDNA from a bovine brain library and a bovine monocyte library. The 268 differentially expressed genes suggested involvement of "a defective glycinergic synaptic transmission in the development of the disease and an alteration of calcium signalling proteins". Clusters of differentially expressed genes are located "in narrow regions on BTA3, BTA5, BTA18 BTA21 and BTA22". For the 86 genes that were under-expressed in affected animals, the only significant KEGG pathway was C2 (Neurodegenerative Diseases).
Krull et al. (2025) "used transcriptomics to analyse the brainstem, spinal cord and affected gastrocnemius muscle tissue of eight animals affected by BSP and eight control animals from slaughterhouses to gain new insights into the molecular mechanisms underlying BSP. We found that the expression of several genes was significantly different in animals affected by BSP compared to control animals. ... [The authors] conclude that BSP is caused by an autoimmune reaction directed against inhibitory interneurons in the brainstem and is due to a combination of genetics and environmental influences."