OMIA:000929-9913 : Spastic syndrome in Bos taurus
In other species: sheep
Categories: Nervous system phene
Links to MONDO diseases: No links.
Mendelian trait/disorder: no
Mode of inheritance: Multifactorial
Considered a defect: yes
Key variant known: no
Mapping: From a GWAS of 46 Holstein AI bulls affected with bovine spastic paresis (BSP) and/or bovine spastic syndrome (BSS), and 213 unspecified control cattle, each genotyped with the BovineLD BeadChip, yielding 9,092 markers, Krull et al. (2020) identified four QTL on chromosome BTA15, and one each on BTA8 and BTA19.
Markers: Whole-genome sequencing of "one affected sire and his two full brothers (one known to be unaffected), two further affected sires and their respective parents, and the affected grandfather (mother's father) of one of these" enabled Krull et al. (2020) to identify a potential marker at BTA15:g.78135822_78135823insC (UMD3.1). However, even allowing for the relatively late onset of this disorder, the high frequency of this variant (73.7%) in 3,093 animals from the 1000 Bull Genomes Project suggests that more work is required before this variant is put to any use as a marker for BSS/BSP.
Prevalence: Krull et al. (2020): "An allele frequency of the [g.78135822_78135823insC] variant of 0.74 was determined in 3,093 samples of the 1000 Bull Genomes Project."
Cite this entry
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
|2023||Neustaeter, A., Brito, L.F., Hanna, W.J.B., Baird, J.D., Schenkel, F.S. :|
|Investigating the genetic background of spastic syndrome in North American Holstein cattle based on heritability, genome-wide association, and functional genomic analyses. Genes (Basel) 14:, 2023. Pubmed reference: 37510383 . DOI: 10.3390/genes14071479.|
|2022||Santifort, K.M., Mandigers, P.J.J. :|
|Dystonia in veterinary neurology. J Vet Intern Med 36:1872-1881, 2022. Pubmed reference: 36086931 . DOI: 10.1111/jvim.16532.|
|2020||Krull, F., Hirschfeld, M., Wemheuer, W.E., Brenig, B. :|
|Frameshift variant in novel adenosine-A1-receptor homolog associated with bovine spastic syndrome/late-onset bovine spastic paresis in Holstein sires. Front Genet 11:591794, 2020. Pubmed reference: 33329738 . DOI: 10.3389/fgene.2020.591794.|
|2018||Goeckmann, V., Rothammer, S., Medugorac, I. :|
|Bovine spastic syndrome: a review. Vet Rec 182:693, 2018. Pubmed reference: 29678888 . DOI: 10.1136/vr.104814.|
|2002||van Wuijckhuise, L., de Boer, R.K., Vandehoek, J.E.D., Terbijhe, R.J. :|
|Periodic spasticity in cattle - She does act strange, but she doesn't have mad cow disease Tijdschrift voor Diergeneeskunde 127:366-369, 2002. Pubmed reference: 12073784 .|
|1998||Tenszen, A. :|
|Spastic syndrome in a canadian hereford bull Canadian Veterinary Journal - Revue Veterinaire Canadienne 39:716-717, 1998.|
|1994||Ohl, M.W., Ott, R.S., Nelson, D.R., Scott, J.V. :|
|Testicular Degeneration Associated with Spastic Syndrome in a Simmental Bull Agri - Practice 15:24, 1994.|
|1987||Wells, G.A.H., Hawkins, S.A.C., O'Toole,D.T., Done, S.H., Duffell, S.J., Bradley, R., Hebert, C.N. :|
|Spastic syndrome in a Holstein bull: a histologic study Veterinary Pathology 24:345-353, 1987. Pubmed reference: 3617400 .|
|1956||Lafortune, J.G. :|
|The spastic syndrome in cattle Canadian Journal of Comparative Medicine 20:206-215, 1956.|
|1953||Roberts, S.J. :|
|A spastic syndrome in cattle Cornell Veterinarian 43:380-388, 1953. Pubmed reference: 13067627 .|
|1941||Frauchiger, E., Hofmann, W. :|
|Die Nervenkrankheiten des Rindes: eine Grundlage für eine vergleichende Neurologie von Mensch und Haustier Bern: Huber :, 1941.|
- Created by Frank Nicholas on 06 Sep 2005
- Changed by Frank Nicholas on 19 Dec 2020
- Changed by Imke Tammen2 on 12 Jan 2023