SPATCC syndrome
Evidence-based neurology checklist on spatcc syndrome: 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
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
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.
