Intellectual disability, neuroregression and adult-onset progressive dystonia due to a DLG4 pathogenic variant.

Laia Peraferrer-Montesinos; Sai A Nagaratnam; Caitlin Forwood; Alexis Berry; Katie Ashton; Jack Dong; Ying Zhu; Marta Arpone; Paloma Becker; Madeline Delves; Hugo Morales Briceno

doi:10.1016/j.parkreldis.2026.108909

PubMed · 42551111

Intellectual disability, neuroregression and adult-onset progressive dystonia due to a DLG4 pathogenic variant.

Laia Peraferrer-Montesinos·Sai A Nagaratnam·Caitlin Forwood·Alexis Berry·Katie Ashton·Jack Dong·Ying Zhu·Marta Arpone·Paloma Becker·Madeline Delves·Hugo Morales Briceno

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Abstract

We report a 34-year-old male with childhood developmental delay, severe intellectual disability in adulthood, episodes of agitation with a previous diagnosis of schizoaffective disorder and adult-onset cognitive regression who developed progressive generalised dystonia due to a de novo DLG4 pathogenic loss-of-function variant. This case expands the phenotypic spectrum of recognised movement disorder manifestations associated with DLG4-related synaptopathy.

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Humans Male Adult Intellectual Disability Membrane Proteins Dystonia Dystonic Disorders DLG4 Developmental delay Gait Case Reports Journal Article

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Laia Peraferrer-Montesinos, Sai A Nagaratnam, Caitlin Forwood, Alexis Berry, Katie Ashton, Jack Dong, Ying Zhu, Marta Arpone, Paloma Becker, Madeline Delves, Hugo Morales Briceno. 2026-08-01. Intellectual disability, neuroregression and adult-onset progressive dystonia due to a DLG4 pathogenic variant.. https://doi.org/10.1016/j.parkreldis.2026.108909

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