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Article

Paving a way to treat spastic paraplegia 50.

The Journal of clinical investigation - 15 May 2023

Brent Jonathan R, Deng Han-Xiang

Abstract excerpt

Spastic paraplegia 50 (SPG50) is a rare neurodegenerative disease caused by loss-of-function mutations in AP4M1. There are no effective treatments for SPG50 or any other type of SPG, and current treatments are limited to symptomatic management. In this issue of the JCI, Chen et al. provide promising data from preclinical studies that evaluated the efficacy and safety profiles of an AAV-mediated AP4M1 gene...

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Identifiers

PMID: 37183815
DOI: 10.1172/JCI170226
PMCID: PMC10178831

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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