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Early Diagnosis of AP5Z1/SPG48 Spastic Paraplegia: Case Report and Review of the Literature.

Neuropediatrics - 1 Oct 2024

Papoff Francesca M A, Astrea Guja, Mero Serena, Chicca Laura, Satolli Sara, Pasquariello Rosa, Battini Roberta, Tessa Alessandra, Santorelli Filippo M

Abstract excerpt

Hereditary spastic paraplegias (HSPs) are a genetically heterogeneous group of neurodegenerative disorders clinically characterized by progressive lower limb spasticity with pyramidal weakness. Around a dozen potential molecular mechanisms are recognized. Childhood HSP is a significant diagnostic challenge in clinical practice. Mutations in AP5Z1, which are associated with spastic paraplegia type 48 (SPG48), are...

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PMID: 39059408
DOI: 10.1055/s-0044-1788729

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