Amengual-Batle Pablo, Rusbridge Clare, José-López Roberto, Golini Lorenzo, Shelton G Diane, Mellersh Cathryn S, Gutierrez-Quintana Rodrigo
Small Animal Hospital, School of Veterinary Medicine, University of Glasgow, Glasgow, United Kingdom.
Fitzpatrick Referrals, Eashing, Surrey, United Kingdom.
J Vet Intern Med. 2018 Nov;32(6):2082-2087. doi: 10.1111/jvim.15312. Epub 2018 Oct 11.
Two unrelated 8-month-old male mixed breed dogs were presented for evaluation of progressive ataxia, knuckling, and lack of pain perception in the distal limbs. Because of the similarity in age of onset, progression, and clinical findings with previously described sensory neuropathy in Border Collies, the affected dogs were screened for an FAM134B mutation and were determined to be homozygous for the mutation. Despite few phenotypic similarities with other breeds, genetic testing for specific diseases should be considered in mixed breed dogs with compatible clinical signs, especially if ancestry is unknown.
两只8个月大的无关混种雄性犬因进行性共济失调、关节弯曲和远端肢体痛觉缺失前来评估。由于发病年龄、病情进展和临床症状与先前描述的边境牧羊犬感觉神经病变相似，对患病犬进行了FAM134B突变筛查，结果确定为该突变的纯合子。尽管与其他品种几乎没有表型相似性，但对于具有相符临床症状的混种犬，尤其是谱系不明的犬只，应考虑针对特定疾病进行基因检测。
