SPATCC syndrome
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
SPATCC syndrome. This is caused by mutations in the SLC1A4 gene. The gene encodes the amino acid transporter ASCT1. Fully referenced neurology checklist.
Genetics and pathology
- This is caused by mutations in the SLC1A4 gene
- The gene encodes the amino acid transporter ASCT1
- ASCT1 enables serine transport from astrocytes to neurones
- The transmission is autosomal recessive
Clinical features
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References
- Heimer G, Marek-Yagel D, Eyal E, et al. SLC1A4 mutations cause a novel disorder of intellectual disability, progressive microcephaly, spasticity and thin corpus callosum. Clin Genet 2015; 88:327-335.
- Abdelrahman HA, Al-Shamsi A, John A, Ali BR, Al-Gazali L. A Novel SLC1A4 Mutation (p.Y191*) causes spastic tetraplegia, thin corpus callosum, and progressive microcephaly (SPATCCM) with seizure disorder. Child Neurol Open 2019; 6:2329048X19880647.
- Heimer G, Marek-Yagel D, Eyal E, et al. SLC1A4 mutations cause a novel disorder of intellectual disability, progressive microcephaly, spasticity and thin corpus callosum. Clin Genet 2015; 88:327-335.
