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Cerebelläre Abiotrophie bei Vollblutaraber-Fohlen

(1995) PFERDEHEILKUNDE. 11(6). p.423-431
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Abstract
Four pure-bred Arabian foals showed severe central nervous symptoms at three weeks to three months of age. The clinical diagnosis ''cerebellar abiotrophy'' was established and later confirmed histopathologically in three of the cases (one foal was not available for autopsy). The dominant clinical signs consisted in severe ataxia, distinctly more pronounced in the front legs (including rump ataxia), in dys- and extreme hypermetric gaits and - above all - in an intention tremor of the head. The menace or blink reflex was absent although the vision of the foals was probably unimpaired. The clinical signs were due to an almost total hypoplasia or atrophy of the Purkinje cell layer. The analysis of the pedigrees of the four Swiss cases, as well as of seven Belgian and one Finnish case showed that all foals were inbred to Skowronek, a stallion born in 1909 in the Ukraine and used predominantly in England. All foals trace to Skowronek through his son Naseem (England, later in Russia) and/or his grandson Nana Sahib (Spain). In addition, some of the foals also trace, through Bakszysz and nor through Skowronek, to Skowronek's grandfather Rymnik. An autosomal recessive mode of inheritance of the trait is the most likely.
Keywords
HORSES, MUTATION, population generics, HYPERKALEMIC PERIODIC PARALYSIS, histopachology, pure-bred Arabian, clinical picture, cerebellar ataxia, FOALS, DIAGNOSIS

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Citation

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Chicago
Gerber, H, CL Gaillard, R Fatzer, E Marti, B Pfistner, Bart Sustronck, G Ueltschi, et al. 1995. “Cerebelläre Abiotrophie Bei Vollblutaraber-Fohlen.” Pferdeheilkunde 11 (6): 423–431.
APA
Gerber, H., Gaillard, C., Fatzer, R., Marti, E., Pfistner, B., Sustronck, B., Ueltschi, G., et al. (1995). Cerebelläre Abiotrophie bei Vollblutaraber-Fohlen. PFERDEHEILKUNDE, 11(6), 423–431.
Vancouver
1.
Gerber H, Gaillard C, Fatzer R, Marti E, Pfistner B, Sustronck B, et al. Cerebelläre Abiotrophie bei Vollblutaraber-Fohlen. PFERDEHEILKUNDE. 1995;11(6):423–31.
MLA
Gerber, H, CL Gaillard, R Fatzer, et al. “Cerebelläre Abiotrophie Bei Vollblutaraber-Fohlen.” PFERDEHEILKUNDE 11.6 (1995): 423–431. Print.
@article{186885,
  abstract     = {Four pure-bred Arabian foals showed severe central nervous symptoms at three weeks to three months of age. The clinical diagnosis ''cerebellar abiotrophy'' was established and later confirmed histopathologically in three of the cases (one foal was not available for autopsy). 
The dominant clinical signs consisted in severe ataxia, distinctly more pronounced in the front legs (including rump ataxia), in dys- and extreme hypermetric gaits and - above all - in an intention tremor of the head. The menace or blink reflex was absent although the vision of the foals was probably unimpaired. 
The clinical signs were due to an almost total hypoplasia or atrophy of the Purkinje cell layer. 
The analysis of the pedigrees of the four Swiss cases, as well as of seven Belgian and one Finnish case showed that all foals were inbred to Skowronek, a stallion born in 1909 in the Ukraine and used predominantly in England. All foals trace to Skowronek through his son Naseem (England, later in Russia) and/or his grandson Nana Sahib (Spain). In addition, some of the foals also trace, through Bakszysz and nor through Skowronek, to Skowronek's grandfather Rymnik. An autosomal recessive mode of inheritance of the trait is the most likely.},
  author       = {Gerber, H and Gaillard, CL and Fatzer, R and Marti, E and Pfistner, B and Sustronck, Bart and Ueltschi, G and Meier, HP and Herholz, C and Straub, R and Geissb{\"u}hler, U and Gerber, V},
  issn         = {0177-7726},
  journal      = {PFERDEHEILKUNDE},
  language     = {ger},
  number       = {6},
  pages        = {423--431},
  title        = {Cerebell{\"a}re Abiotrophie bei Vollblutaraber-Fohlen},
  url          = {http://www.hippiatrika.com/download.htm?id=19950606},
  volume       = {11},
  year         = {1995},
}