OMIA:002325-9685 : Encephalopathy, ASPA-related in Felis catus
Categories: Nervous system phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 271900 (trait) , 608034 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2021
Species-specific name: spongy encephalopathy
Species-specific description: A neurodegenerative syndrome in cats analogous to human Canavan disease.
Inheritance: Takaichi et al. (2021): "Four female mixed-breed cats exhibiting neurological signs consistent with intracranial disease were examined ... . These cats were bred in different regions in Japan and considered to be an unrelated pedigree."
Molecular basis: Takaichi et al. (2021) identified ASPA as a likely candidate gene based on clinical features. "A single base substitution of guanine for cytosine (c.859G>C) in exon 6 was identified in all affected cats ... . This missense mutation is predicted to result in an amino acid substitution of a conserved alanine to proline (A287P). ... The mutation showed a SIFT score of 0.00 and was predicted to be highly damaging to the functions of the ASPA protein."
Clinical features: Takaichi et al. (2021): "clinical signs were gait disturbance and head tremors appearing between 1 and 19 months of age. Dysstasia, intension tremors, and seizures were present in the terminal stages, and the median age of death was 11 months ... . In MRI analyses, hypointense lesions on T1-weighted (T1W) images and hyperintense lesions on T2W images were detected in the cerebral cortex, hippocampus, cerebellum, and brain stem ... . The GC-MS [gas chromatography–mass spectrometry] analysis identified the aberrant excretion of NAA [N-acetylaspartate] in the urine" of one affected cat.
Pathology: Takaichi et al. (2021): "Postmortem analysis revealed vacuolar changes predominantly distributed in the gray matter of the cerebrum and brain stem as well as in the cerebellar Purkinje cell layer. Immunohistochemically, these vacuoles were surrounded by neurofilaments and sometimes contained MBP- and Olig2-positive cells. Ultrastructurally, a large number of intracytoplasmic vacuoles containing mitochondria and electron-dense granules were detected in the cerebral cortex."
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
|OMIA Variant ID||Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Source of Genetic Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|1309||Encephalopathy, spongy||ASPA||missense||Naturally occurring variant||Felis_catus_9.0||E1||g.13585610C>G||c.859G>C||p.(A287P)||XM_006939957.4; XP_006940019.1||2021||33779415|
|2021||Takaichi, Y., Chambers, J.K., Shiroma-Kohyama, M., Haritani, M., Une, Y., Yamato, O., Nakayama, H., Uchida, K. :|
|Feline spongy encephalopathy with a mutation in the ASPA gene. Vet Pathol 58:705-712, 2021. Pubmed reference: 33779415 . DOI: 10.1177/03009858211002176.|
- Created by Imke Tammen2 on 14 Apr 2021