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Article

Expanding the Phenotypic Spectrum of SLC1A4-Related Spastic Tetraplegia: A Case With Novel Multisystem Features.

Journal of investigative medicine high impact case reports - 1 Jan 2026

Mujahed Ramzi H, Alawawdeh Leyana, Nassar Baraa, Khalaf Ranya Abu, Qabaha Adam Hafiz, Makhlouf Taha Z

Abstract excerpt

Spastic tetraplegia, thin corpus callosum, and progressive microcephaly (SPATCCM) is a rare autosomal recessive neurodevelopmental disorder caused by pathogenic variants in the SLC1A4 gene. 24 cases have been reported worldwide. We describe a 30-month-old boy born to consanguineous parents, presenting with global developmental delay, seizures, progressive microcephaly, spastic tetraplegia, feeding difficulties,...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 41934118
DOI: 10.1177/23247096261440338
PMCID: PMC13051137

Genes

SLC1A4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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