SPOAN syndrome was first discovered by a research group led by Silvana Santos in the Serrinha dos Pintos area of Northeast Brazil known for high levels of inbreeding.[11] The name derives from an acronym for spastic paraplegia, optic atrophy, and peripheral neuropathy (SPOAN), the symptoms characteristic to the syndrome.[7]
The cause is a homozygous deletion of 216 base pairs in KLC2 regulatory region.[12]
This homozygous deletion has been found in more than 70 individuals from Rio Grande do Norte backlands and siblings in Egypt; the mutation origin was in Iberian Peninsula over 485 years ago.[13]
