| SPATCCM | |
|---|---|
| Symptoms | microcephaly and significant developmental delay |
| Causes | mutations in the SLC1A4 gene |
| Treatment | anti-epileptics |
Spastic tetraplegia, thin corpus callosum, and progressive microcephaly (often referred to by its acronym SPATCCM) is a rare autosomal recessive disease caused by mutations in the SLC1A4 gene encoding the ASCT1 protein. The ASCT1 protein is primarily found in astrocytes in the brain where its main role is to import L-serine, a non-essential amino acid.