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RAB24 Missense Variant in Dogs with Cerebellar Ataxia.

Cleo Schwarz^1,2, Jan Wennemuth³, Julien Guevar^4,5

¹Institute of Genetics, Vetsuisse Faculty, University of Bern, 3001 Bern, Switzerland.

|August 28, 2025

Summary

A novel mutation in the RAB24 gene was identified in dogs with hereditary ataxia. This finding suggests RAB24 as a candidate gene for human cerebellar ataxia, advancing our understanding of neurodegenerative disorders.

Keywords:

CNS Canis lupus familiaris WGS animal model neurology precision medicine

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Area of Science:

Genetics
Neuroscience
Veterinary Medicine

Background:

Hereditary ataxias are a diverse group of neurological disorders causing loss of coordination.
Canine models are crucial for understanding human neurodegenerative diseases.

Purpose of the Study:

To identify the genetic cause of a progressive ataxia in a family of dogs.
To investigate the role of the RAB24 gene in canine cerebellar ataxia.

Main Methods:

Whole-genome sequencing of affected dogs and their parents.
Bioinformatic filtering for causative variants.
Segregation analysis and in silico protein analysis.

Main Results:

A homozygous missense variant (RAB24:p.Gly80Val) was identified in affected dogs and segregated with the phenotype.
The variant affects a conserved RabF4 motif, potentially impacting protein function.
This is the second reported pathogenic RAB24 variant, suggesting its importance in ataxia.

Conclusions:

The RAB24:p.Gly80Val variant is likely the cause of ataxia in the studied dogs.
RAB24 is implicated in cerebellar ataxia and should be considered a candidate gene for human patients.