OMIA 000929-9913 : Spastic syndrome in Bos taurus

In other species: domestic cat , sheep

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."

References


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.
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.

Edit History


  • Created by Frank Nicholas on 06 Sep 2005
  • Changed by Frank Nicholas on 19 Dec 2020