Neuronal Ceroid Lipofuscinosis 12 (NCL12)
            Breed: Australian Cattle Dog
        
        
        
        
    Generic Phene Data
        
            Breeds
        
    
    
                
                Relevance Rating: There is some evidence or research available  in this breed 
                
            
            
            
                
                Relevance Rating: The test is unknown, there is no evidence (i.e. research) available, or it has not been evaluated yet. These tests may or may not be meaningful  in this breed 
                
            
            
        
        
        
            GTPs
        
    
    
General
        
            Disease Name
        
    
    
            Neuronal Ceroid Lipofuscinosis 12 (NCL12)
            
        
        
        
            OMIA
        
    
    
            1552
            
        
        
        
            Gene Name
        
    
    
            ATP13A2
            
        
        
        
            Mutation
        
    
    
            c.1623delG
            
        
        
        
            Test Type
        
    
    
            Genetic Disease/Disorder
            
        
        
        
            Details
        
    
    
            The Neuronal ceroid lipofuscinosis (NCLs) are a group of inherited neurodegenerative diseases characterized by accumulation of autofluorescent cytoplasmic antibodies within cells of the nervous system. Affected dogs typically exhibit a condition of cerebellar dysfunction in which voluntary muscular movements tend to result in loss of control and coordination. Behavioural changes, dementia, seizures, tremors, vision problems, ataxia, aggressiveness and cognitive decline (4-6 years of age)
            
        
        
        
            Details 2
        
    
    
            The Neuronal ceroid lipofuscinosis (NCLs) are a group of inherited neurodegenerative diseases characterized by accumulation of autofluorescent cytoplasmic antibodies within cells of the nervous system. Affected dogs typically exhibit a condition of cerebellar dysfunction in which voluntary muscular movements tend to result in loss of control and coordination. Behavioural changes, dementia, seizures, tremors, vision problems, ataxia, aggressiveness and cognitive decline (4-6 years of age)
            
        
        
        
            Published
        
    
    
            Farias et al., 2011, Neurobiology of Disease 42(3): A truncating mutation in ATP13A2 is responsible for adult-onset neuronal ceroid lipofuscinosis in Tibetan terriers
            
        
        
        
            Body/System/Process
        
    
    
            Metabolic
            
        
        
        
            OMIA Url
        
    
    
        
            Inheritance
        
    
    
            AR
            
        
        HSP Test-Specific Data
Genomia s.r.o
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            Genomia s.r.o
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            GTP Disease Synonym
        
    
    
            NCL12
            
        
        
        
            Gene Name
        
    
    
            ATP13A2
            
        
        
        
            Mutation
        
    
    
            c.1118C>T
            
        
        
        
            Mutation Comment
        
    
    
            g.81208162C>T
            
        
        
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