neuropathy, hereditary sensory and autonomic, type 1A

neuropathy, hereditary sensory and autonomic, type 1A

An autosomal dominant hereditary axonal neuropathy (OMIM:162400), a genetically and clinically heterogeneous group of disorders characterised by degeneration of dorsal root and autonomic ganglion cells, as well as by sensory and/or autonomic abnormalities, with an onset in the second or third decades of life.
 
Clinical findings
Initially, loss of pain, touch, heat and cold sensation over the feet, followed by distal muscle wasting and weakness. Loss of pain sensation leads to chronic skin ulcers and need for distal amputations.

Molecular pathology
Caused by defects of SPTLC1, which encodes a long-chain base subunit of serine palmitoyltransferase, a key enzyme in sphingolipid synthesis.