Progressive ataxia and a heterozygous variant in the PLA2G6 gene in a Border Collie dog
Case report
DOI:
https://doi.org/10.31533/pubvet.v20n8e1992Keywords:
Neuroaxonal dystrophy, neurodegeneration, veterinary geneticsAbstract
Hereditary ataxias comprise a heterogeneous group of neurological disorders whose clinical manifestations and genetic alterations may complicate diagnosis. This report aimed to describe the clinical, neurological, laboratory, imaging, and genetic findings in a four-year-old female Border Collie presenting with progressive ataxia, dysmetria, difficulty remaining standing, and episodes of urinary incontinence. Laboratory tests, cerebrospinal fluid analysis, and spinal imaging revealed no abnormalities that could explain the neurological signs. Brain magnetic resonance imaging showed mild symmetrical enlargement of the lateral ventricles. A genetic panel identified the c.1516G>A (p.I506V) variant in the PLA2G6 gene in heterozygosity, whereas the variants investigated in the CUBN, GJA9, MTM1, and SOD1 genes were not detected. Although PLA2G6 alterations have been associated with neurodegenerative diseases, the heterozygous finding, together with the absence of histopathological confirmation and sufficient evidence of pathogenicity, does not establish a causal relationship with the clinical signs. The patient was therefore considered to have a progressive neurological disorder of undetermined etiology, possibly degenerative, and the genetic finding should be interpreted cautiously and in conjunction with the other clinical and diagnostic data.
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