Neuroaxonal Dystrophy, Juvenile
            Breed: Spanish Waterdog
        
        
        
        
    Generic Phene Data
        
            Breeds
        
    
    
                
                Relevance Rating: There is some evidence or research available  in this breed 
                
            
            
        
        General
        
            Disease Name
        
    
    
            Neuroaxonal Dystrophy, Juvenile
            
        
        
        
            OMIA
        
    
    
            1975
            
        
        
        
            Gene Name
        
    
    
            TECPR2
            
        
        
        
            Mutation
        
    
    
            c.4009C>T
            
        
        
        
            Test Type
        
    
    
            Genetic Disease/Disorder
            
        
        
        
            Details
        
    
    
            Neuroaxonal Dystrophy, Juvenile, is a progressive degeneration of nerve cells causing "spheroids" to form on the nerve endings. Considered to be rare. The nerve cells are no longer able to transmit normally to each other causing the loss of coordination. Early signs include: respiratory failure, scoliosis, joint contractures, progressing to: odd gait, stumbling, poor coordination, tremors especially of the head, no bowel or urine control, increased risk of vitamin E deficenct and pneumonia. Age of onset not specified, but associated with young (juvenile/puppy) dogs. Some dogs do not show symptoms until adulthood.
            
        
        
        
            Details 2
        
    
    
            Clinical, pathological and genetic examination revealed an as yet uncharacterized juvenile-onset neuroaxonal dystrophy (NAD) in Spanish water dogs. Affected dogs presented with various neurological deficits including gait abnormalities and behavioral deficits. Histopathology demonstrated spheroid formation accentuated in the grey matter of the cerebral hemispheres, the cerebellum, the brain stem and in the sensory pathways of the spinal cord. Iron accumulation was absent. Ultrastructurally spheroids contained predominantly closely packed vesicles with a double-layered membrane, which were characterized as autophagosomes using immunohistochemistry... (Hahn et al, 2017)
            
        
        
        
            Published
        
    
    
            Hahn, K., Rohdin, C., Jagannathan, V., Wohlsein, P., Baumgärtner, W., Seehusen, F., Spitzbarth, I., Grandon, R., Drögemüller, C., Jäderlund, K.H. : TECPR2 Associated Neuroaxonal Dystrophy in Spanish Water Dogs. PLoS One 10:e0141824, 2015. Pubmed reference: 26555167. DOI: 10.1371/journal.pone.0141824.
            
        
        
        
            Body/System/Process
        
    
    
            Neurologic
            
        
        
        
            OMIA Url
        
    
    
        
            Inheritance
        
    
    
            AR
            
        
        Breed Specific Info
        
            Researched Breeds
        
    
    
            Spanish Water Dog
            
        
        HSP Test-Specific Data
Antagene
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            Antagene
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            TECPR2
            
        
        
        
            Mutation
        
    
    
            c.4009C>T
            
        
        
        
            Nature of test
        
    
    
            mutation test
            
        
        
        
            Application in the Breed
        
    
    
            Neurodegenerative disease leading to loss of motor function and to behavioural deficits
            
        
        
        
            FCI Number
        
    
    
            336
            
        
        
        
            GTP Breed
        
    
    
            Spanish Waterdog
            
        
        EVG Diagnostics
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            EVG Molecular Diagnostics
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            TECPR2
            
        
        
        
            Mutation
        
    
    
            c.4009C>T
            
        
        Genomia s.r.o
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            Genomia s.r.o
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            GTP Disease Synonym
        
    
    
            NAD
            
        
        
        
            Gene Name
        
    
    
            TECPR2
            
        
        
        
            Mutation
        
    
    
            c.4009C>T
            
        
        
        
            Mutation Comment
        
    
    
            g.70433320C>T
            
        
        The Royal Kennel Club
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            The Kennel Club
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            TECPR2
            
        
        
        
            Mutation
        
    
    
            c.4009C>T
            
        
        
        
            This test is outsourced to:
        
    
    
            Weatherby's
            
        
        Paw Print Genetics
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            Paw Print Genetics
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            TECPR2
            
        
        
        
            Mutation
        
    
    
            c.4009C>T
            
        
        
        
            Nature of test
        
    
    
            mutation test
            
        
        
        
            FCI Number
        
    
    
            336
            
        
        VetGen LLC
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            VetGen LLC
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            TECPR2
            
        
        
        
            Mutation
        
    
    
            c.4009C>T
            
        
        Weatherbys Scientific
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            Weatherbys Scientific
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            TECPR2
            
        
        
        
            Mutation
        
    
    
            c.4009C>T
            
        
        Wisdom Panel - Kinship
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            Wisdom Panel - Kinship
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            TECPR2
            
        
        
        
            Mutation
        
    
    
            c.4009C>T
            
        
        
        
            Nature of test
        
    
    
            mutation test
            
        
        
        
            FCI Number
        
    
    
            336
            
        
        
        
            GTP Breed
        
    
    
            Spanish Waterdog
            
        
        AnimaLabs
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            AnimaLabs
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
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