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Article

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

International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience - 1 Apr 2026

Esener Zeynep, Bulut Edanur, Kale Gülnur Ertürk, Sarı Serpil, Açan Durgül

Abstract excerpt

BACKGROUND: Hereditary spastic paraplegias are a diverse group of neurodegenerative diseases, clinically divided into pure and complex types. Spastic paraplegia 48 is caused by pathogenic biallelic variants in the AP5Z1 gene. Our study aims to expand the phenotypic and genotypic spectrum in this very rare syndrome. MATERIALS AND METHODS: Case files, detailed anamnesis, radiological imaging, physical examination...

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Identifiers

PMID: 41808431
DOI: 10.1002/jdn.70113

Genes

AP5Z1

Variants

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

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