Congenital spongiform leukodystrophy in 2 female littermate German shepherd puppies

被引：0

作者：

De Miguel, Ricardo ^{[1
]}

Hague, Devon Wallis ^{[2
]}

Johnson, Jennifer L. ^{[3
]}

Zilinger, Amber M. ^{[3
]}

Kukekova, Anna ^{[3
]}

Lezmi, Stephane ^{[4
,5
]}

机构：

[1] AnaPath Serv GmbH, Liestal, Switzerland

[2] Univ Illinois, Dept Vet Clin Med, Urbana, IL USA

[3] Univ Illinois, Coll Agr Consumer & Environm Sci, Dept Anim Sci, Champaign, IL USA

[4] Univ Illinois, Dept Pathobiol, Champaign, IL 61802 USA

[5] Excilone Serv, Jouy En Josas, France

来源：

JOURNAL OF VETERINARY INTERNAL MEDICINE | 2024年 / 38卷 / 03期

关键词：

ASPA gene; aspartoacylase; Canavan disease; myelin; SPONGY DEGENERATION; CEREBELLAR-ATAXIA; MUTATION; DOGS; LEUKOENCEPHALOMYELOPATHY; GENE;

D O I：

10.1111/jvim.17055

中图分类号：

S85 [动物医学（兽医学）];

学科分类号：

0906 ;

摘要：

Two 9-week-old female littermate German Shepherd puppies showed severe high-frequency low-amplitude trembling that worsened with movement. The white matter (WM) of the central nervous system (CNS) showed bilateral diffuse severe spongiosis in the cerebellum, brainstem, spinal cord, and the neuropil of the oculomotor and red nuclei. The cortical corona radiata was less severely affected. Rare necrotic or apoptotic glia-like cells also were identified in the WM. Luxol fast blue staining disclosed severe diffuse myelin loss in the entire CNS; peripheral nerves were spared. Glial fibrillary acidic protein immunohistochemistry showed diffuse astrogliosis and astrocytosis in the WM. Genetic analyses of the littermates excluded the aspartoacylase (ASPA) gene as a candidate for this condition in dogs. In conclusion, this description of a rare congenital spongiform leukodystrophy in the German Shepherd breed, closely resembling to Canavan disease in humans, is likely caused by a genetic alteration unrelated to the ASPA gene.

引用

页码：1730 / 1736

页数：7

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