Patterson Edward E, Mickelson James R, Da Yang, Roberts Monica C, McVey Alistair S, O'Brien Dennis P, Johnson Gary S, Armstrong P Jane
Department of Small Animal Clinical Sciences, University of Minnesota, College of Veterinary Medicine, St Paul, MN 55108, USA.
J Vet Intern Med. 2003 May-Jun;17(3):319-25. doi: 10.1111/j.1939-1676.2003.tb02455.x.
Medical record, seizure survey, and telephone interview information was obtained for 29 Vizslas with idiopathic epilepsy (IE), 74 unaffected siblings, and 41 parents to determine the common clinical characteristics and most likely mode of inheritance. IE was diagnosed on the basis of the age of seizure onset, laboratory results, and neurologic examination findings. Computerized tomography (CT) or magnetic resonance imaging (MRI) scan with cerebrospinal fluid (CSF) analysis was required for the inclusion of dogs with an age of seizure onset of < 6 months or > 5 years. Simple segregation analysis was performed with an ascertainment correction and chi-square analysis. IE appeared to be familial in these pedigrees, with 79% of affected Vizslas exhibiting partial onset seizures. Partial seizure signs included a combination of limb tremors, staring, pupillary dilatation, or salivation without loss of consciousness in > 50% of the dogs with partial signs. The estimated segregation frequency of P = .22 (95% CI, P = .08 to .36) was consistent with autosomal recessive inheritance; however, polygenic inheritance could not be excluded as a possibility. Simulated linkage with FASTSLINK estimated that the average logarithm of odds (LOD) score would be 3.23 with a 10-centimorgan (cM) whole-genome scan for these families, indicating that these families would be useful for a whole-genome scan to potentially find the chromosomal segment(s) containing the epilepsy gene or genes. We conclude that IE in Vizslas appears to be primarily a partial onset seizure disorder that may be inherited as an autosomal recessive trait.
获取了29只患有特发性癫痫（IE）的维兹拉犬、74只未受影响的同胞犬以及41只父母犬的病历、癫痫调查和电话访谈信息，以确定其共同的临床特征和最可能的遗传模式。IE的诊断基于癫痫发作年龄、实验室检查结果和神经学检查结果。对于癫痫发作年龄小于6个月或大于5岁的犬只，需要进行计算机断层扫描（CT）或磁共振成像（MRI）扫描以及脑脊液（CSF）分析才能纳入研究。采用校正确定法和卡方分析进行简单分离分析。在这些家系中，IE似乎具有家族性，79%的患犬表现为部分性发作。部分发作症状包括肢体震颤、凝视、瞳孔散大或流涎等多种症状组合，超过50%有部分症状的犬只发作时意识未丧失。估计的分离频率P = 0.22（95%可信区间，P = 0.08至0.36）与常染色体隐性遗传一致；然而，不能排除多基因遗传的可能性。使用FASTSLINK进行模拟连锁分析估计，对这些家系进行10厘摩（cM）的全基因组扫描时，平均优势对数（LOD）分数将为3.23，这表明这些家系对于全基因组扫描以潜在地找到包含癫痫基因的染色体片段将是有用的。我们得出结论，维兹拉犬的IE似乎主要是一种部分性发作障碍，可能作为常染色体隐性性状遗传。
