Progressive Parkinsonism in PPP2R5D-Related Neurodevelopmental Disorder.

Ann Clin Transl NeurolJul 17, 2026 (epub)
Case ReportNeurologyMedical GeneticsOpen access

Katerina Bernardi, Enrique Gonzalez Saez-Diez, Joshua Rong et al.

✦ AI-curated · Sources linked

Condensed from the publisher's abstract. An xxcode editorial summary of this publication has not been generated yet.

From the abstract

PPP2R5D-related neurodevelopmental disorder (Houge-Janssens syndrome type 1) is a rare autosomal dominant condition characterized by macrocephaly, intellectual disability, and epilepsy. Progressive parkinsonism is an emerging adult phenotype that neurologists should be aware of since timely genetic diagnosis opens the door to disease-modifying therapies currently in clinical…

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PubMed · PMID 42467642Free full text on PubMed Central

Published in Ann Clin Transl Neurol. The text above is extracted from the publisher's own abstract and has not been edited by xxcode. For clinical decisions, review the original publication.

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