| 英文描述 | Fucosidosis is a progressive neurologic disorder with signs appearing at 1-3 years of age in springer spaniels. This is a 'storage-like' disease due to a deficiency of alpha-L-fucosidase leading to vacuolation of nervous and other tissues. Intracytoplasmic vacuoles can be seen in lymphocytes. Inherited as an autosomal recessive, and heterozygotes have fucosidase levels half that of non-carrier dogs. Dx by very low levels of fucosidase in plasma and extracts of leucocytes. Clinical signs are usually multifocal. There is no treatment, and in one study no affected animals survived to 4 years of age. |
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