So far, there is no strong evidence from Genome Wide Association Study or Copy Number Variants studies for autism loci found near or comprising SPAST. 29 30 A recent study showed that inherited Single Nucleotide Variants that produce truncated proteins are more frequent in autistic probands and are in genes that are intolerant for functional variations.31 Furthermore, they found one case with autism and truncating Single Nucleotide Variants in the exon 5 of SPAST. 31. Here, SPAST is linked to autism.