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Congenital spongiform leukodystrophy in 2 female littermate German shepherd puppies.
Journal of Veterinary Internal Medicine 2024 March 28
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.
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