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纯种欧亚犬家族性非进行性共济失调伴小脑下发育不全类似丹迪-沃克样畸形:一项回顾性和前瞻性临床队列研究

Inferior cerebellar hypoplasia resembling a Dandy-Walker-like malformation in purebred Eurasier dogs with familial non-progressive ataxia: a retrospective and prospective clinical cohort study.

作者信息

Bernardino Filipa, Rentmeister Kai, Schmidt Martin J, Bruehschwein Andreas, Matiasek Kaspar, Matiasek Lara A, Lauda Alexander, Schoon Heinz A, Fischer Andrea

机构信息

Centre for Clinical Veterinary Medicine, Clinic of Small Animal Medicine, Ludwig Maximilian University, Munich, Germany.

Tierärztliche Praxis für Neurologie, Dettelbach, Germany.

出版信息

PLoS One. 2015 Feb 10;10(2):e0117670. doi: 10.1371/journal.pone.0117670. eCollection 2015.

Abstract

Cerebellar malformations can be inherited or caused by insults during cerebellar development. To date, only sporadic cases of cerebellar malformations have been reported in dogs, and the genetic background has remained obscure. Therefore, this study`s objective was to describe the clinical characteristics, imaging features and pedigree data of a familial cerebellar hypoplasia in purebred Eurasier dogs. A uniform cerebellar malformation characterized by consistent absence of the caudal portions of the cerebellar vermis and, to a lesser degree, the caudal portions of the cerebellar hemispheres in association with large retrocerebellar fluid accumulations was recognized in 14 closely related Eurasier dogs. Hydrocephalus was an additional feature in some dogs. All dogs displayed non-progressive ataxia, which had already been noted when the dogs were 5-6 weeks old. The severity of the ataxia varied between dogs, from mild truncal sway, subtle dysmetric gait, dysequilibrium and pelvic limb ataxia to severe cerebellar ataxia in puppies and episodic falling or rolling. Follow-up examinations in adult dogs showed improvement of the cerebellar ataxia and a still absent menace response. Epileptic seizures occurred in some dogs. The association of partial vermis agenesis with an enlarged fourth ventricle and an enlarged caudal (posterior) fossa resembled a Dandy-Walker-like malformation in some dogs. Pedigree analyses were consistent with autosomal recessive inheritance.

摘要

小脑畸形可能是遗传性的,也可能是在小脑发育过程中受到损伤所致。迄今为止,犬类中仅报道过散发性小脑畸形病例,其遗传背景仍不明确。因此,本研究的目的是描述纯种欧亚犬家族性小脑发育不全的临床特征、影像学特征和系谱数据。在14只亲缘关系密切的欧亚犬中,发现了一种一致的小脑畸形,其特征为小脑蚓部尾部持续缺失,小脑半球尾部在较小程度上缺失,并伴有小脑后大量积液。脑积水是部分犬的另一个特征。所有犬均表现为非进行性共济失调,在5-6周龄时就已出现。不同犬之间共济失调的严重程度有所不同,从轻度躯干摇摆、轻微辨距不良步态、平衡失调和后肢共济失调到幼犬严重的小脑共济失调以及发作性跌倒或翻滚。成年犬的随访检查显示小脑共济失调有所改善,但威胁反应仍缺失。部分犬出现癫痫发作。部分蚓部发育不全与第四脑室扩大和后颅窝扩大相关,在部分犬中类似Dandy-Walker样畸形。系谱分析符合常染色体隐性遗传。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d463/4323131/b2be2ee55a75/pone.0117670.g001.jpg

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