Genetic Test
The FAM134B (Family With Sequence Similarity 134 Member B) gene encodes a protein that plays a structural role in the Golgi apparatus, an essential organelle involved in processing and transporting cellular materials.
This protein is particularly crucial for the long-term survival of neurons. Mutations in the FAM134B gene can lead to hereditary sensory and autonomic neuropathy (HSAN), a group of disorders that affect the sensory and autonomic nervous systems.
Additionally, variations in this gene have been implicated in vascular dementia, suggesting a broader role in neurodegenerative processes.
This genetic test targets a specific FAM134B mutation associated with sensory ataxic neuropathy.
Disease Description
Hereditary sensory and autonomic neuropathy (HSAN) is a degenerative neurological disorder that affects the peripheral sensory and autonomic nerves.
Affected dogs experience progressive nerve degeneration, leading to a range of neurological symptoms such as sensory loss, impaired pain perception, and autonomic dysfunction (e.g., abnormal heart rate or sweating).
In severe cases, the neurological impairment is so profound that affected dogs may require euthanasia before two years of age due to quality-of-life concerns.
