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
VetGen LLC
GTP
GTP Name
VetGen LLC
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
The Kennel Club
GTP
GTP Name
The Kennel Club
Breed
OMIA
Gene Name
TECPR2
Mutation
c.4009C>T
This test is outsourced to:
Weatherby's
Weatherbys Scientific
GTP
GTP Name
Weatherbys Scientific
Breed
OMIA
Gene Name
TECPR2
Mutation
c.4009C>T
EVG Diagnostics
GTP
GTP Name
EVG Molecular Diagnostics
Breed
OMIA
Gene Name
TECPR2
Mutation
c.4009C>T
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
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA
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