Symptoms Gait abnormalities (ataxia), loss of muscle tone, behavioral changes (dullness, nervousness, vocalization), incontinence, decreased to absent patellar reflexes, nystagmus
Gene involved MFN2
Mutation tested c.1617_1619delGGA (FNAD)
Transmission mode : Autosomal recessive
Publication : Fyfe et al. (2011). A novel mitofusin 2 mutation causes canine fetal-onset neuroaxonal dystrophy.
Gene involved TECPR2
Mutation tested c.4009C>T
Transmission mode : Autosomal recessive
Publication : Hahn et al. (2015). TECPR2 Associated Neuroaxonal Dystrophy in Spanish Water Dogs.
Gene involved PLA2G6
Mutation tested c.1579G>A
Transmission mode : Autosomal recessive
Publication : Tsuboi et al. (2017). Identification of the PLA2G6 c.1579G>A missense mutation in Papillon Dog Neuroaxonal Dystrophy using whole exome sequencing analysis.
Gene involved VPS11
Mutation tested c.2504A>G
Transmission mode : Autosomal recessive
Publication : Lucot et al. (2018). A Missense Mutation in the Vacuolar Protein Sorting 11 ( VPS11) Gene Is Associated with Neuroaxonal Dystrophy in Rottweiler Dogs.
Gene involved RNF170
Mutation tested c.367delG
Transmission mode : Autosomal recessive Age of onset : Between 2 and 5 years old Specificity : Slowly progressive form
Publication : Cook et al. (2024). Canine RNF170 single base deletion in a naturally occurring model for human neuroaxonal dystrophy.