ArticleBrain : a journal of neurology2023
Stuttering associated with a pathogenic variant in the chaperone protein cyclophilin 40.
Article in Brain : a journal of neurology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 13 citations in OpenAlex.
- Developmental stuttering with common and complex phenotypes.Developmental medicine and child neurology · 2026Article
- Reduced integrity in the frontal aslant tract's premotor connections is associated with dysfluency severity in stuttering.PNAS nexus · 2026Article
- De novo protein-coding gene variants in developmental stuttering.Molecular psychiatry · 2026Article
- Challenges and Opportunities in Characterizing the Genetics of Stuttering: From Sample Acquisition to Functional Interpretation of the Genome.Journal of speech, language, and hearing research : JSLHR · 2025Review
- Unraveling Stuttering Through a Multi-Omics Lens.Life (Basel, Switzerland) · 2025Article
- The clinical and genetic spectrum of paediatric speech and language disorders.Brain : a journal of neurology · 2025Article
- A Biopsychosocial Overview of Speech Disorders: Neuroanatomical, Genetic, and Environmental Insights.Biomedicines · 2025Review
- Stuttering: Our Current Knowledge, Research Opportunities, and Ways to Address Critical Gaps.Neurobiology of language (Cambridge, Mass.) · 2025Review
- Speech and language classification in the human phenotype ontology.European journal of human genetics : EJHG · 2024Article
- The clinical and genetic spectrum of paediatric speech and language disorders in 52,143 individuals.medRxiv : the preprint server for health sciences · 2024Article
- Knowns and unknowns about the neurobiology of stuttering.PLoS biology · 2024Article
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33 authors at 11 institutions in 3 countries.
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Abstract
Stuttering is a common speech disorder that interrupts speech fluency and tends to cluster in families. Typically, stuttering is characterized by speech sounds, words or syllables which may be repeated or prolonged and speech that may be further interrupted by hesitations or 'blocks'. Rare variants in a small number of genes encoding lysosomal pathway proteins have been linked to stuttering. We studied a large four-generation family in which persistent stuttering was inherited in an autosomal dominant manner with disruption of the cortico-basal-ganglia-thalamo-cortical network found on imaging. Exome sequencing of three affected family members revealed the PPID c.808C>T (p.Pro270Ser) variant that segregated with stuttering in the family. We generated a Ppid p.Pro270Ser knock-in mouse model and performed ex vivo imaging to assess for brain changes. Diffusion-weighted MRI in the mouse revealed significant microstructural changes in the left corticospinal tract, as previously implicated in stuttering. Quantitative susceptibility mapping also detected changes in cortico-striatal-thalamo-cortical loop tissue composition, consistent with findings in affected family members. This is the first report to implicate a chaperone protein in the pathogenesis of stuttering. The humanized Ppid murine model recapitulates network findings observed in affected family members.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.