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Article

Identifying the Fourth Patient With Spastic Paraplegia 90, Extending the Phenotype Spectrum.

Clinical genetics - 1 Jan 2026

Duzenli Tarik, Yusufova Vusala, Cetin Huriye, Serdaroglu Esra, Buyukkaragoz Bahar, Kayhan Gulsum

Abstract excerpt

Spastic paraplegia 90 (SPG90; OMIM #620416, 620417) is a rare neurologic disease caused by monoallelic or biallelic variants in the serine palmitoyltransferase small subunit A (SPTSSA) gene. This syndrome is characterized by neurodevelopmental delay, sensorineural hearing loss, progressive motor impairment, and lower extremity spasticity. To date, only three patients have been reported. In this report, we present...

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Identifiers

PMID: 40533086
DOI: 10.1111/cge.70009

Genes

SPTSSA

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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