OMIA:000928-9913 : Spastic paresis in Bos taurus (taurine cattle)

In other species: pig

Categories: Nervous system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 149400 (trait)

Mendelian trait/disorder: no

Mode of inheritance: Multifactorial

Disease-related: yes

Key variant known: no

Species-specific name: posterior paralysis; hind-limb paralysis

Inheritance: 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.

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.

Molecular basis: 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).

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

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2020). OMIA:000928-9913: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

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.

2023 Ro, Y., Choi, W., Hong, L., Min, K., Ryu, I., Kim, D. :
Application of tenotomy on Korean native cattle (Hanwoo) with spastic paresis symptoms in the field. J Vet Sci 24:e45, 2023. Pubmed reference: 37271513. DOI: 10.4142/jvs.23018.
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.
2016 Goeckmann, V., Rothammer, S., Medugorac, I. :
Bovine spastic paresis: A review of the genetic background and perspectives for the future. Vet J 216:64-71, 2016. Pubmed reference: 27687928. DOI: 10.1016/j.tvjl.2016.07.001.
2014 De Vlamynck, C., Pille, F., Vlaminck, L. :
Bovine spastic paresis: current knowledge and scientific voids. Vet J 202:229-35, 2014. Pubmed reference: 25201252. DOI: 10.1016/j.tvjl.2014.07.015.
2013 Binanti, D., Fantinato, E., De Zani, D., Riccaboni, P., Pravettoni, D., Zani, D.D. :
Segmental spinal cord hypoplasia in a Holstein Friesian calf. Anat Histol Embryol 42:316-20, 2013. Pubmed reference: 23094595. DOI: 10.1111/ahe.12012.
De Vlamynck, C., Vlaminck, L., Hauspie, S., Saunders, J., Gasthuys, F. :
Ultrasound-guided femoral nerve block as a diagnostic aid in demonstrating quadriceps involvement in bovine spastic paresis. Vet J 196:451-5, 2013. Pubmed reference: 23199615. DOI: 10.1016/j.tvjl.2012.10.033.
Pariset, L., Bongiorni, S., Bueno, S., Gruber, C.E., Prosperini, G., Chillemi, G., Bicorgna, S., Gentile, A., Valentini, A. :
Microarray gene expression profiling of neural tissues in bovine spastic paresis. BMC Vet Res 9:122, 2013. Pubmed reference: 23782433. DOI: 10.1186/1746-6148-9-122.
2005 Griffiths, IB. :
Spastic paresis in calves. Vet Rec 156:786-7, 2005. Pubmed reference: 15951506.
2004 Ledoux, JM. :
Hypothesis of interference to superinfection between bovine spastic paresis and bovine spongiform encephalopathy; suggestions for experimentation, theoretical and practical interest. Med Hypotheses 62:346-53, 2004. Pubmed reference: 14975501. DOI: 10.1016/j.mehy.2003.11.019.
2002 Gentile, A. :
La Paresi Spastica nel bovino di razza Romagnola. Atti Soc It Buiatria 9:191-198, 2002.
2001 Ledoux, J.M. :
Bovine spastic paresis: etiological hypotheses Medical Hypotheses 57:573-579, 2001. Pubmed reference: 11735313. DOI: 10.1054/mehy.2001.1411.
2000 Vlaminck, L., De, Moor, A., Martens, A., Steenhaut, M., Gasthuys, F., Desmet, P., Van, Branteghem, L. :
Partial tibial neurectomy in 113 Belgian blue calves with spastic paresis Veterinary Record 147:16-19, 2000. Pubmed reference: 10975347.
1993 Hanset, R., Serteyn, D., Grobet, L., Michaux, C. :
The bovine spastic paresis and its inheritance Annales de Medecine Veterinaire 137:237-247, 1993.
Harper, P.A.W. :
Spastic paresis in Brahman crossbred cattle Australian Veterinary Journal 70:456-457, 1993. Pubmed reference: 8117215.
1989 Pavaux, C. :
The Triple Tenectomy - A New Surgical Method for Treatment of Spastic Paresis of Calves Revue de Medecine Veterinaire 140:691-696, 1989.
Yamada, H., Miyahara, K., Kameya, T., Oda, Y. :
A successful case of spastic paresis in a calf by partial tibial neurectomy. Nihon Juigaku Zasshi 51:213-4, 1989. Pubmed reference: 2927031. DOI: 10.1292/jvms1939.51.213.
1987 Horst, H. :
Spastic paresis - genetic and environmental factors involved Simmental News :1-2, 1987.
1986 Browning, G.F., Rawlinson, R.J., Begg, A.P. :
Spastic paresis in a Poll Hereford heifer. Aust Vet J 63:367-9, 1986. Pubmed reference: 3827772. DOI: 10.1111/j.1751-0813.1986.tb02899.x.
1982 Leipold, H.W. :
Study on bovine spastic paresis. Bovine Practice 3:31-32, 1982.
1981 Keith, J.R. :
Spastic paresis in beef and dairy cattle Veterinary Medicine and Small Animal Clinician 76:1043-1047, 1981. Pubmed reference: 6914085.
1980 Bradley, R., Wijeratne, W.V. :
A locomotor disorder clinically similar to spastic paresis in an adult Friesian bull. Vet Pathol 17:305-15, 1980. Pubmed reference: 7368524. DOI: 10.1177/030098588001700304.
1976 Bijleveld, K., Hartman, W. :
Electromyographic studies in calves with spastic paresis. Tijdschr Diergeneeskd 101:805-8, 1976. Pubmed reference: 941125.
Karczewski, W., Hoppe, R., Empel, W. :
The genetic variability of the hock joint angle of bulls as related to parental inheritance of spastic paresis Proceedings of the Eighth International Congress on Animal Reproduction and Artificial Insemination, Krakow 128:?, 1976.
Wijeratine, WV. :
Letter: Heritability of spastic paresis. Vet Rec 98:139-40, 1976. Pubmed reference: 1258318.
1975 Dawson, P.L.L. :
The economic aspect of spastic paresis of the hind legs of Friesian cattle Veterinary Record 97:432-433, 1975. Pubmed reference: 1216428.
1974 Baird, J.D., Johnston, K.G., Hartley, W.J. :
Spastic paresis in Friesian calves Australian Veterinary Journal 50:239-245, 1974. Pubmed reference: 4415847.
Zebrowski, L. :
Karyotype analysis in cases of spastic paresis in cattle. Preliminary report Medycyna Weterynaryjna 30:159, 1974.
1973 Bijleveld, K. :
[Heredity of spastic paresis in cattle. A contra-indication to surgical treatment?]. Tijdschr Diergeneeskd 98:799-802, 1973. Pubmed reference: 4766008.
Bijleveld, K., Binkhorst, G.J. :
[Examination of the blood and cerebrospinal fluid in calves with spastic paresis]. Tijdschr Diergeneeskd 98:803-6, 1973. Pubmed reference: 4766009.
Bijleveld, K. :
[Total neurectomy of the tibial nerve in the treatment of spastic paresis in cattle]. Tijdschr Diergeneeskd 98:791-4, 1973. Pubmed reference: 4732468.
Chomiak, M., Lakomy, M., Szteyn, S., Milart, Z. :
[Further histopatological studies of the central nervous system of cattle with spastic paresis]. Arch Exp Veterinarmed 27:791-8, 1973. Pubmed reference: 4785714.
Osinga, A., De Boer, G. :
[Field experience of partial and total neurectomy of the tibial nerve in spastic paresis of calves]. Tijdschr Diergeneeskd 98:795-8, 1973. Pubmed reference: 4766007.
1972 Matousková, O., Lojda, L., Stavíková, M. :
[Heritability of the position of the hindlimbs in tarsal angles in the Czech pied cattle in relation to spastic paresis]. Vet Med (Praha) 17:159-64, 1972. Pubmed reference: 4624039.
1971 Chomiak, M., Szteyn, S., Lewandowski, M. :
[Changes of the central nervous system in cattle with spastic paresis]. Monatsh Veterinarmed 26:813-5, 1971. Pubmed reference: 5146330.
Milart, Z., Chomiak, M. :
Pathological changes in the central nervous system of a bull affected with spastic paresis. Vet Rec 88:66-8, 1971. Pubmed reference: 5100595. DOI: 10.1136/vr.88.3.66.
Stolzenburg, U., Schonmuth, G. :
Experimental studies on the economic aspects and heredity of spastic paresis of the hind legs Wissenschaftliche Zeitschrift der Humboldt-Universitat zu Berlin 20:353-370, 1971.
Stolzenburg, U., Schonmuth, G. :
Spastic paresis of the hindlegs in cattle. II. Origin and breeding history of all the A.I. bulls of the German Black Pied breed culled in East Germany from 1957-1966 Archiv fur Tierzucht 14:453-469, 1971.
Vestweber, J.G., Noordsy, J.L. :
Surgical treatment of bovine spastic paresis. Vet Med Small Anim Clin 66:52-4, 1971. Pubmed reference: 5212183.
1970 Bargai, U. :
Spastic paresis in Israeli-Friesian cattle Refuah Veterinarith 27:30-35, 1970.
Chomiak, M., Szteyn, S. :
[Changes in the central nervous system in a case of spastic paresis in a bull]. Schweiz Arch Tierheilkd 112:397-401, 1970. Pubmed reference: 5534655.
Gadgil, B.A., Agarwal, S.P., Patel, U.G. :
Spastic paresis in adult Indian cattle. Vet Rec 86:694-7, 1970. Pubmed reference: 5528400. DOI: 10.1136/vr.86.23.694.
Gerov, K., Chushkov, P., Dikov, V., Tomov, A., Lisichkov, V., Rangelov, P. :
Hereditary paralysis in Bulgarian Red calves Veterinarna Sbirka 67:26-31, 1970.
Huskamp, B., Daniels, H. :
[Treatment of spastic paresis in calves by De Moor's denervation of the M. gastrocnemius]. Dtsch Tierarztl Wochenschr (1946) 77:28-31, 1970. Pubmed reference: 5529176.
1969 Genchi, C. :
[Serum creatine phosphokinase in cattle. 3. In normal calves and in calves affected with spastic paresis]. Arch Vet Ital 20:349-54, 1969. Pubmed reference: 5407459.
1968 Denniston, JC., Shive, RJ., Friedli, U., Boucher, WB. :
Spastic paresis syndrome in calves. J Am Vet Med Assoc 152:1138-49, 1968. Pubmed reference: 5689298.
1967 Boyd, JS., Weaver, AD. :
Spastic paresis in cattle. Vet Rec 80:529-30, 1967. Pubmed reference: 6068052.
Leipold, H.W., Huston, K., Guffy, M.M., Noordsy, J.L. :
Spastic paresis in beef Shorthorn cattle Journal of the American Veterinary Medical Association 151:598-601, 1967. Pubmed reference: 6069487.
1965 Rieck, G.W., Leipold, H.W. :
[Investigations on the pathogenic relationship between the straight-hocked condition in cattle and spastic paresis] Zentralbl Veterinarmed A 12:559-79, 1965. Pubmed reference: 4954085.
1964 Sybesma, R.P. :
[Spastic paresis] Tijdschrift voor Diergeneeskunde 89:613-615, 1964.
1963 Rasbech, N.O. :
Spastic paresis of the hind leg of offspring from bulls of the Red Danish Milk breed Proceedings of the Ninth Nordic Veterinary Congress, Copenhagen 11:519-523, 1963.
1962 Rasbech, N.O. :
Investigations on steep hocks and progressive contraction of tendons (spastic paresis) in Danish Red cows Aarsberetning. Institut for Sterilitetsforskning, Copenhagen :7-13, 1962.
Schmahlstieg, R., Matzke, U. :
Investigations on the localisation, actiology and heritability of spastic paresis in cattle. II. Manganese levels in health animals and animals with spastic paresis Zentralblatt fur Veterinarmedizin 9:507-519, 1962.
Schmahlstieg, R., Matzke, U. :
[Site, aetiology and inheritance of spastic paresis in cattle. I. Accommodation of the extensors of the hock and stifle] Zentralblatt fur Veterinarmedizin 9:12-45, 1962.
1961 Jelinek, K. :
The inheritance of spastic paresis in Red Pied bulls used in artificial insemination Zivocisna Vyroba 6:601-610, 1961.
1960 Wheat, J.D. :
Spastic lameness of the hindlimbs of an Aberdeen Angus heifer Journal of the American Veterinary Medical Association 137:659-660, 1960. Pubmed reference: 13784729.
1959 Schalk, C., Hoekstra, P. :
Preliminary investigation on the occurrence of 'Straight hocks' in Dutch cattle Tijdschrift voor Diergeneeskunde 84:927-934, 1959.
1952 Christensen, E., Christensen, N.O. :
Congenital hereditary paralysis in calves. A clinical and pathologic-anatomical study Nordisk Veterinaermed 4:861-878, 1952.
1950 Nielsen, J. :
Studies on congenital paraplegia of Danish Red calves Thesis; published by Copenhagen: Danske Forlag :173 pp, 1950.
1922 Hamoir, J. :
La contracture des muscles jumeaux chez le bœuf Echo Vét. 51:163-175, 1922.

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  • Created by Frank Nicholas on 18 Mar 2011
  • Changed by Frank Nicholas on 26 Jan 2013
  • Changed by Frank Nicholas on 31 Aug 2013
  • Changed by Frank Nicholas on 19 Dec 2020