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Neuroaxonal Dystrophy, Juvenile

Breeds

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
Neuroaxonal Dystrophy, Juvenile
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.
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