Gene affected: MTTY
Inheritance: Mitochondrial (maternal)
Mutation: ChrM: 5304del
OMIA reference: 001467-9615


Breeds applicable for testing: Golden Retrievers


Clinical signs:
Sensory ataxic neuropathy is a neurological disorder caused by damage to sensory nerve fibers, resulting in a loss of proprioception. It is characterized by an unsteady gait, poor coordination, and loss of balance, often worsening when the eyes are closed. Muscle strength is generally preserved.


References:
Cocostîrc, V., Paștiu, A.I., Pusta, D.L. (2023). An overview of canine inherited neurological disorders with known causal variants. Animals (Basel), 13:3568. PMID: 38003185.
Tkaczyk-Wlizło, A., Kowal, K., Ślaska, B. (2022). Mitochondrial DNA alterations in the domestic dog (Canis lupus familiaris) and their association with development of diseases: A review. Mitochondrion, 63:72–84. PMID: 35134592.
Baranowska, I., Jäderlund, K.H., Nennesmo, I., Holmqvist, E., Heidrich, N., Larsson, N.G., Andersson, G., Wagner, E.G., Hedhammar, A., Wibom, R., Andersson, L. (2009). Sensory ataxic neuropathy in golden retriever dogs is caused by a deletion in the mitochondrial tRNATyr gene. PLoS Genetics, 5:e1000499. PMID: 19492087.
Jäderlund, K.H., Orvind, E., Johnsson, E., Matiasek, K., Hahn, C.N., Malm, S., Hedhammar, A. (2007). A neurologic syndrome in Golden Retrievers presenting as a sensory ataxic neuropathy. Journal of Veterinary Internal Medicine, 21:1307–1315. PMID: 18196741.