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Skeletal radiographic manifestations of GM2 gangliosidosis variant 0 (Sandhoff disease) in two Japanese domestic cats.

Yoshihiko YuDaisuke HasegawaYuji HamamotoShunta MizoguchiToshiki FujimoriYoshiaki KuboMd Shafiqul IslamOsamu Yamato
Published in: JFMS open reports (2022)
:c.667C>T pathogenic genetic variant. Furthermore, together with a report published in 2015 on the radiographic findings of feline GM2 gangliosidosis variant 0 caused by another pathogenic genetic variant, this report suggests that these findings may be indicators of feline GM2 gangliosidosis variant 0. The easily obtained radiographic findings described in this report may be useful as a finding suggestive of feline GM2 gangliosidosis variant 0, in addition to the cytological finding of the vacuolated cells. The report emphasises the utility of radiography for diagnosis of cases with suspected progressive neurodegenerative diseases.
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