Peer-reviewed veterinary case report
Cat with brain disease linked to gene variant causing nerve damage
By Guevar, Julien et al.·Published in Journal of veterinary internal medicine·2020·Vetsuisse Faculty·View original on PubMed →
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Original publication title: A major facilitator superfamily domain 8 frameshift variant in a cat with suspected neuronal ceroid lipofuscinosis.
- Species:
- cat
Plain-English summary
A 2-year-old male domestic shorthair cat was brought in due to worsening issues with posture, behavior, and mental state. The cat showed signs of tremors and did not respond to visual cues during the exam, leading the vet to suspect a serious brain condition. Advanced imaging and genetic testing revealed two unique changes in a gene linked to a neurodegenerative disorder called neuronal ceroid lipofuscinosis type 7 (CLN7). This case is significant as it marks the first time this genetic alteration has been reported in a cat with suspected CLN7.
People also search for: cat abnormal behavior · cat tremors causes · cat neurodegenerative disease · CLN7 in cats · cat genetic testing for brain disorders
Abstract
A 2-year-old male domestic shorthair cat was presented for a progressive history of abnormal posture, behavior, and mentation. Menace response was absent bilaterally, and generalized tremors were identified on neurological examination. A neuroanatomical diagnosis of diffuse brain dysfunction was made. A neurodegenerative disorder was suspected. Magnetic resonance imaging findings further supported the clinical suspicion. Whole-genome sequencing of the affected cat with filtering of variants against a database of unaffected cats was performed. Candidate variants were confirmed by Sanger sequencing followed by genotyping of a control population. Two homozygous private (unique to individual or families and therefore absent from the breed-matched controlled population) protein-changing variants in the major facilitator superfamily domain 8 (MFSD8) gene, a known candidate gene for neuronal ceroid lipofuscinosis type 7 (CLN7), were identified. The affected cat was homozygous for the alternative allele at both variants. This is the first report of a pathogenic alteration of the MFSD8 gene in a cat strongly suspected to have CLN7.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/31860737/