Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly (SPATCCM)

Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly (SPATCCM)

OMIM number: 616657

Comments closing date: 30/06/2025

Spastic tetraplegia, thin corpus callosum, and
progressive microcephaly (SPATCCM) is a rare
recessive condition caused by mutations in the
SLC1A4 gene on chromosome 2. The SLC1A4
gene encodes for the amino acid transporter
ASCT1 that is necessary for serine cellular
transport to neurons. This is an infantile onset,
severe neurodevelopmental condition. Children
with this condition have profound developmental
delay and usually never achieve speech, or walk
independently. Progressive microcephaly and
spasticity are also features of the condition. Some
also have seizures. Brain MRI shows
characteristic abnormalities typified by a thin
corpus callosum, delayed myelination, and
nonspecific white matter abnormalities. Whilst
generally a rare condition, this gene has a
common founder mutation in the Ashkenazi
Jewish population, with a carrier frequency of
around 1 in 100 in this population.

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