Tremor, X-linked
            Breed: English Springer Spaniel
        
        
        
        
    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 
                
            
            
        
        General
        
            Disease Name
        
    
    
            Tremor, X-linked
            
        
        
        
            OMIA
        
    
    
            770
            
        
        
        
            Gene Name
        
    
    
            PLP1
            
        
        
        
            Mutation
        
    
    
            c.110A>C
            
        
        
        
            Mutation 2
        
    
    
            p.H37P
            
        
        
        
            Mutation 3
        
    
    
            g.77200833A>C
            
        
        
        
            Mutation 4
        
    
    
            c.219A>C
            
        
        
        
            Test Type
        
    
    
            Genetic Disease/Disorder
            
        
        
        
            Details
        
    
    
            X-linked Tremor, sometimes called shaking puppy syndrome, is a neurological disorder of the central nervous system, caused by a lack of the insulating myelin sheath covering the axons of the nerves. This can lead to premature death. Signs in males include severe tremors in the body, head, and limbs, worsening with activity and appearing to improve during rest, difficulties standing, moving, and eating - later progressing to seizures. Pups are smaller in size than their unaffected littermates. Age of onset form 2 weeks. The life expectancy of affected dogs is not normally beyond 3-4 months. Females carriers of the disorder may have mild tremors during puppyhood that resolve by 4-6 weeks of age.
            
        
        
        
            Details 2
        
    
    
            X-linked Tremor, sometimes called shaking puppy syndrome, is a neurological disorder of the central nervous system, caused by a lack of the insulating myelin sheath covering the axons of the nerves. This can lead to premature death. Signs in males include severe tremors in the body, head, and limbs, worsening with activity and appearing to improve during rest, difficulties standing, moving, and eating - later progressing to seizures. Pups are smaller in size than their unaffected littermates. Age of onset form 2 weeks. The life expectancy of affected dogs is not normally beyond 3-4 months. Females carriers of the disorder may have mild tremors during puppyhood that resolve by 4-6 weeks of age.
            
        
        
        
            Published
        
    
    
            Nadon, N.L., Duncan, I.D., Hudson, L.D. : A Point Mutation in the Proteolipid Protein Gene of the Shaking Pup Interrupts Oligodendrocyte Development Development 110:529-537, 1990. Pubmed reference: 1723945.
            
        
        
        
            Published 2
        
    
    
            Cuddon, P.A., Lipsitz, D., Duncan, I.D. : Myelin mosaicism and brain plasticity in heterozygous females of a canine X-linked trait Annals of Neurology 44:771-779, 1998. Pubmed reference: 9818933. DOI: 10.1002/ana.410440511.
            
        
        
        
            Body/System/Process
        
    
    
            Neurologic
            
        
        
        
            OMIA Url
        
    
    
        
            Inheritance
        
    
    
            XR
            
        
        HSP Test-Specific Data
Agrotis S.r.l.
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            Agrotis S.r.l.
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            PLP1
            
        
        
        
            Mutation
        
    
    
            unpublished
            
        
        BioBank AS
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            BioBank AS
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            PLP1
            
        
        
        
            Mutation
        
    
    
            unpublished
            
        
        Certagen GmbH
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            Certagen GmbH
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            PLP1
            
        
        
        
            Mutation
        
    
    
            unpublished
            
        
        CMSCH
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            CMSCH
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            PLP1
            
        
        
        
            Mutation
        
    
    
            unpublished
            
        
        Genomia s.r.o
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            Genomia s.r.o
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            GTP Disease Name
        
    
    
            Tremor, X-linked
            
        
        
        
            GTP Disease Synonym
        
    
    
            SPS
            
        
        
        
            Gene Name
        
    
    
            PLP1
            
        
        
        
            Mutation
        
    
    
            c.110A>C
            
        
        
        
            Mutation Comment
        
    
    
            g.77200833A>C
            
        
        INNO
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            INNO
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            PLP1
            
        
        
        
            Mutation
        
    
    
            unpublished
            
        
        Laboratorios Labocor S.L.
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            Laboratorios Labocor S.L.
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            PLP1
            
        
        
        
            Mutation
        
    
    
            unpublished
            
        
        PharmaDNA
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            PharmaDNA
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            PLP1
            
        
        
        
            Mutation
        
    
    
            unpublished
            
        
        Progènes-ADN
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            Progenes ADN
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            PLP1
            
        
        
        
            Mutation
        
    
    
            unpublished
            
        
        VetGen LLC
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            VetGen LLC
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            PLP1
            
        
        
        
            Mutation
        
    
    
            c.219A>C of exon 2
            
        
        VHL Genetics/ Combibreed
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            VHL Genetics
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            PLP1
            
        
        
        
            Mutation
        
    
    
            unpublished
            
        
        Weatherbys Scientific
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            Weatherbys Scientific
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            PLP1
            
        
        
        
            Mutation
        
    
    
            c.219A>C of exon 2
            
        
        Wisdom Panel - Kinship
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            Wisdom Panel - Kinship
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            PLP1
            
        
        
        
            Mutation
        
    
    
            unpublished
            
        
        
        
            Nature of test
        
    
    
            mutation test
            
        
        
        
            FCI Number
        
    
    
            125
            
        
        
        
            GTP Breed
        
    
    
            English Springer Spaniel
            
        
        Zoolyx
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            Zoolyx
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            PLP1
            
        
        
        
            Mutation
        
    
    
            unpublished
            
        
        AnimaLabs
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            AnimaLabs
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
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