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OMIA:001091-9823 : Ataxia, progressive in Sus scrofa

In other species: dog , taurine cattle

Categories: Behaviour / neurological phene

Links to MONDO diseases: No links.

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Considered a defect: yes

Key variant known: no

Cross-species summary: A progressive failure of muscle co-ordination, resulting in perverse movements. References for cattle are listed under: Hypomyelinogenesis, congenital (OMIA 000527-9913)

Species-specific name: congenital progressive ataxia and spastic paresis

Species-specific symbol: CPA

Species-specific description: The central nervous system appears normal at birth, but older pigs show dysplasia of the cerebellar cortex. Rimaila-Parnanen (1982) provided convincing evidence of autosomal recessive inheritance

Markers: y

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.

2014 Vögeli, P., Bertschinger, H.U., Bürgi, E., Neuenschwander, S. :
[Inheritance and disease in the pig: possibilities of use for breeding]. Schweiz Arch Tierheilkd 156:269-77, 2014. Pubmed reference: 24867239 . DOI: 10.1024/0036-7281/a000589.
2009 Genini, S., Nguyen, T.T., Bürgi, E., Stranzinger, G., Vögeli, P., Giuffra, E. :
Elimination of INPP4A and SLC5A7 as candidate genes for congenital progressive ataxia and spastic paresis in pigs. Anim Genet 40:789-90, 2009. Pubmed reference: 19397514 . DOI: 10.1111/j.1365-2052.2009.01889.x.
2007 Genini, S., Kratzsch, A., Korczak, B., Neuenschwander, S., Brenig, B., Jörg, H., Bürgi, E., Ossent, P., Stranzinger, G., Vögeli, P. :
Analysis and mapping of CACNB4, CHRNA1, KCNJ3, SCN2A and SPG4, physiological candidate genes for porcine congenital progressive ataxia and spastic paresis. J Anim Breed Genet 124:269-76, 2007. Pubmed reference: 17868079 . DOI: 10.1111/j.1439-0388.2007.00673.x.
1999 Kratzsch, A., Stricker, C., Gmur, C., Rieder, S., Jorg, H., Ossent, P., Burgi, E., Zimmermann, W., Stranzinger, G., Vogeli, P. :
Congenital progressive ataxia and spastic paresis, a hereditary disease in swine, maps to Chromosome 3 by linkage analysis Mammalian Genome 10:1036-1038, 1999. Pubmed reference: 10501979 .
1982 Rimaila-Parnanen, E. :
Recessive mode of inheritance in progressive ataxia and incoordination in Yorkshire pigs Hereditas 97:305-306, 1982.

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  • Created by Frank Nicholas on 01 Dec 2009