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Article

PPP1R21-Related neurodevelopmental disorder: Phenotypic delineation, variant spectrum, and pathophysiological mechanisms.

Neurogenetics - 8 Aug 2026

Comisi Francesco Fabrizio, Di Pasquale Gabriele, Comisi Andrea Maria, Mangano Giuseppe Donato, Pavone Piero, Ferretti Alessandro, Salpietro Vincenzo, Parisi Pasquale, Spalice Alberto

Abstract excerpt

PPP1R21-related neurodevelopmental disorder (PPP1R21-NDD) is an ultra-rare autosomal-recessive encephalopathy caused by dysfunction of the Five-subunit Endosomal Rab5 and RNA/ribosome intermediarY (FERRY) complex. To delineate the clinical, neuroimaging, and molecular spectrum of PPP1R21-NDD and outline diagnostic and research priorities. Targeted searches of PubMed, EMBASE, Scopus, Web of Science, and Google...

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Identifiers

PMID: 42570139
DOI: 10.1007/s10048-026-00920-4
PMCID: PMC13452748

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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