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Lagotto Storage Disease

Breeds

Relevance Rating: There is strong evidence or research available in this breed

General

Disease Name
Lagotto Storage Disease
Mutation
c.1288G>A
Mutation 2
p.A430T
Test Type
Genetic Disease/Disorder
Details
Lagotto storage disease is described as a progressive ataxia. Symptoms include hopping, behavioural problems, other gait abonormalities, and abnormal eye movements. Age of onset from 4 months to 4 years reported.
Details 2
As reported by Kyöstilä et al. (2015), "The typical clinical presentation in affected dogs was progressive ataxia". Neurological examination "revealed a mild to severe cerebellar ataxia . . . The majority of dogs had normal paw positioning responses when postural reactions were tested but showed delayed onset of correction in hopping reactions. Spinal reflexes were normal except for decreased or absent patellar reflexes in five dogs. Menace reaction was decreased in eight dogs, and exaggerated in one dog. Positional nystagmus was visible in four dogs during the eurological examination. Magnetic resonance imaging of the brain was performed in 11 affected dogs. The principal findings included signs of mild atrophy of the cerebellum in nine dogs and of the forebrain in six dogs. In five dogs, lateral ventricles were enlarged. A small corpus callosum was detected in three affected dogs when compared to age matched LRs. In two affected dogs, the brain imaging was unremarkable." As also reported by Kyöstilä et al. (2015), "Histological examination revealed widespread swelling and clear vacuolization of the neuronal cytoplasm, diffusely affecting the central and peripheral nervous system. The cytoplasmic vacuolization varied from fine vesiculation to large confluent vacuoles". Syrjä et al. (2017) investigated the cellular alterations in detail and found that basal, but not induced autophagy, is altered in homozygous mutant cells from affected dogs. (From OMIA)
Published
Kyostila, K., Syrja, P., Jagannathan, V., Chandrasekar, G., Jokinen, T.S., Seppala, E.H., Becker, D., Drogemuller, M., Dietschi, E., Drogemuller, C., Lang, J., Steffen, F., Rohdin, C., Jaderlund, K.H., Lappalainen, A.K., Hahn, K., Wohlsein, P., Baumgartner, W., Henke, D., Oevermann, A., Kere, J., Lohi, H., Leeb, T. : A missense change in the ATG4D gene links aberrant autophagy to a neurodegenerative vacuolar storage disease. PLoS Genet 11:e1005169, 2015. Pubmed reference: 25875846. DOI: 10.1371/journal.pgen.1005169.
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