What question did this study set out to answer?

To report a novel variant in the AP5Z1 gene and its implications for spastic paraplegia diagnosis.

March 13, 2026International Journal of Developmental Neuroscience0 citations

Expanding the Genotypic and Phenotypic Spectrum of AP5Z1 ‐Related Spastic Paraplegia: A Novel Variant and Comprehensive Literature Review

ZEZeynep EsenerBalıkesir University EBEdanur BulutBalıkesir University GKGülnur Ertürk KaleBalıkesir University

Key Points

To report a novel variant in the AP5Z1 gene and its implications for spastic paraplegia diagnosis.
Case report of a patient with spasticity and genetic analysis for AP5Z1 variants.
Literature review of previously documented cases of AP5Z1-related spastic paraplegia.
Identified a compound heterozygous variant in the AP5Z1 gene in the patient.
Expanded the previously limited phenotypic spectrum of AP5Z1-related spastic paraplegia.

Abstract

In this report, we present a patient from Turkey with spasticity, who has compound heterozygous variants in the AP5Z1 gene, representing the 17th case described in the literature. This report expands the phenotypic spectrum of the AP5Z1-related spastic paraplegia type 48, which has only rarely been reported in the literature. It underscores the importance of comprehensive genetic testing and variant interpretation in achieving an accurate diagnosis and providing genetic counselling for affected families with spastic paraplegia.

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