Mednet Member
Neurology · University of Minnesota
HSAN1 is a hereditary autosomal dominant sensory and autonomic neuropathy caused by SPTLC1 or SPTLC2 mutations in the serine palmitoyl transferase enzyme. This enzyme is critical for proper formation of sphingolipids which are essential components of peripheral nerve axons. Mutations in the SPTLC1 o...