Neuroaxonal Dystrophy

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.

Concerned breeds :

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.

Concerned breeds :

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). RNF170 frameshift deletion in Miniature American Shepherd dogs with neuroaxonal dystrophy provides a naturally occurring model for human RNF170 phenotypic spectrum.