Breeds
General
Disease Name
Alpha Fucosidosis
OMIA
396
Gene Name
FUCA1
Mutation
c.379_392del14bp
OMIM
230000
Disease Code
FUCA1
Test Type
Genetic Disease/Disorder
Synonyms/Related Terms
Fucosidosis
Details
Signs include behavioral changes and signs of physical dysfunction that, on average, start 1-2 years of age, with some signs starting as early as 4-6 months. Affected dogs exhibit abnormal behavior patterns, may be aggressive or depressed, and appear "forgetful". Other signs include appearing unsteady on their feet, blindness and deafness, and may suffer from gastrointestinal problems. The disease can appear to progress rapidly, and death or euthanasia usually occurs within a few weeks from the onset of clinical signs. Nearly all dogs with this disease die or are put to sleep by 4 years.
Details 2
Signs include progressive ataxia, proprioceptive dysfunction, change in temperament, dysphagia, dysphonia, loss of learned behavior, muscle wasting, and blindness. Affected dogs appear clinically normal until around 4-6 months of age, when behavioral signs may first be noticeable. However, diagnosis may only be picked up later, 1-2 years of age. Affected dogs usually die or are euthanized by 3-4 years of age.
Published
Skelly, B.J., Sargan, D.R., Herrtage, M.E., Winchester, B.G. : The molecular defect underlying canine fucosidosis Journal of Medical Genetics 33:284-288, 1996. Pubmed reference: 8730282.
Published 2
Holmes, N.G., Acheson, T., Ryder, E.J., Binns, M.M. : A PCR-based diagnostic test for fucosidosis in English Springer Spaniels Veterinary Journal 155:113-114, 1998.
Published 3
Skelly, B.J., Sargan, D.R., Winchester, B.G., Smith, M.O., Herrtage, M.E., Giger, U. : Genomic screening for fucosidosis in English Springer Spaniels American Journal of Veterinary Research 60:726-729, 1999. Pubmed reference: 10376901.
Body/System/Process
Metabolic
OMIA Url
Inheritance
AR
Gene Name Text
fucosidase, alpha-L- 1, tissue
