ArticleMolecular syndromology2025
Hereditary Spastic Paraplegy Associated with the AP4S1 Gene: A Case Series Highlighting Diagnostic Pitfalls and Phenotypic Variability.
Article in Molecular syndromology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Introduction: Complex hereditary spastic paraplegias (HSPs) are defined by progressive spasticity with diverse neurological manifestations, complicating the diagnostic process. Pathogenic variants in genes encoding subunits of the adaptor protein complex-4 (AP4), including the Case Presentation: We report three siblings with complex HSP harboring pathogenic Conclusion: In patients with progressive spasticity, seizures, distinctive craniofacial features, and neuroimaging anomalies,
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