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
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