Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/34281
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dc.contributor.authorMorgan, Angela T-
dc.contributor.authorScerri, Thomas S-
dc.contributor.authorVogel, Adam P-
dc.contributor.authorReid, Christopher A-
dc.contributor.authorQuach, Mara-
dc.contributor.authorJackson, Victoria E-
dc.contributor.authorMcKenzie, Chaseley-
dc.contributor.authorBurrows, Emma L-
dc.contributor.authorBennett, Mark F-
dc.contributor.authorTurner, Samantha J-
dc.contributor.authorReilly, Sheena-
dc.contributor.authorHorton, Sarah E-
dc.contributor.authorBlock, Susan-
dc.contributor.authorKefalianos, Elaina-
dc.contributor.authorFrigerio-Domingues, Carlos-
dc.contributor.authorSainz, Eduardo-
dc.contributor.authorRigbye, Kristin A-
dc.contributor.authorFeatherby, Travis J-
dc.contributor.authorRichards, Kay L-
dc.contributor.authorKueh, Andrew-
dc.contributor.authorHerold, Marco J-
dc.contributor.authorCorbett, Mark A-
dc.contributor.authorGecz, Jozef-
dc.contributor.authorHelbig, Ingo-
dc.contributor.authorThompson-Lake, Daisy G Y-
dc.contributor.authorLiégeois, Frédérique J-
dc.contributor.authorMorell, Robert J-
dc.contributor.authorHung, Andrew-
dc.contributor.authorDrayna, Dennis-
dc.contributor.authorScheffer, Ingrid E-
dc.contributor.authorWright, David K-
dc.contributor.authorBahlo, Melanie-
dc.contributor.authorHildebrand, Michael S-
dc.date2023-
dc.date.accessioned2023-12-01T00:31:37Z-
dc.date.available2023-12-01T00:31:37Z-
dc.date.issued2023-12-01-
dc.identifier.citationBrain : a journal of Neurology 2023-12-01; 146(12)en_US
dc.identifier.issn1460-2156-
dc.identifier.urihttps://ahro.austin.org.au/austinjspui/handle/1/34281-
dc.description.abstractStuttering 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.en_US
dc.language.isoeng-
dc.subjectPPID geneen_US
dc.subjectbrain MRIen_US
dc.subjectchaperoneen_US
dc.subjectcyclophilin-40en_US
dc.subjectstutteringen_US
dc.titleStuttering associated with a pathogenic variant in the chaperone protein cyclophilin 40.en_US
dc.typeJournal Articleen_US
dc.identifier.journaltitleBrain : a journal of Neurologyen_US
dc.identifier.affiliationMurdoch Children's Research Institute, Parkville 3052, Australia.;Department of Audiology and Speech Pathology, University of Melbourne, Parkville 3052, Australia.en_US
dc.identifier.affiliationDepartment of Audiology and Speech Pathology, University of Melbourne, Parkville 3052, Australia.;Centre for Neuroscience of Speech, The University of Melbourne, Parkville 3053, Australia.;Clinical Trials, Redenlab Inc., Melbourne 3000, Australia.en_US
dc.identifier.affiliationFlorey Institute of Neuroscience and Mental Health, University of Melbourne, 3052, Parkville 3052, Australia.;Department of Medicine, Epilepsy Research Centre, University of Melbourne, Heidelberg 3084, Australia.en_US
dc.identifier.affiliationDepartment of Neuroscience, Central Clinical School, Monash University, Melbourne 3004, Australia.en_US
dc.identifier.affiliationThe Walter and Eliza Hall Institute of Medical Research, Parkville 3052, Australia.;Department of Medical Biology, University of Melbourne, Parkville 3052, Australia.en_US
dc.identifier.affiliationFlorey Institute of Neuroscience and Mental Health, University of Melbourne, 3052, Parkville 3052, Australia.en_US
dc.identifier.affiliationThe Walter and Eliza Hall Institute of Medical Research, Parkville 3052, Australia.;Department of Medical Biology, University of Melbourne, Parkville 3052, Australia.;Department of Medicine, Epilepsy Research Centre, University of Melbourne, Heidelberg 3084, Australia.en_US
dc.identifier.affiliationMurdoch Children's Research Institute, Parkville 3052, Australia.en_US
dc.identifier.affiliationMurdoch Children's Research Institute, Parkville 3052, Australia.;Menzies Health Institute Queensland, Griffith University, 4215 Southport, Australia.en_US
dc.identifier.affiliationMurdoch Children's Research Institute, Parkville 3052, Australia.;Department of Audiology and Speech Pathology, University of Melbourne, Parkville 3052, Australia.en_US
dc.identifier.affiliationDiscipline of Speech Pathology, School of Allied Health, La Trobe University, Bundoora 3086, Australia.en_US
dc.identifier.affiliationMurdoch Children's Research Institute, Parkville 3052, Australia.;Department of Audiology and Speech Pathology, University of Melbourne, Parkville 3052, Australia.en_US
dc.identifier.affiliationLaboratory of Communication Disorders, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20892-2320, USA.en_US
dc.identifier.affiliationLaboratory of Communication Disorders, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20892-2320, USA.en_US
dc.identifier.affiliationDepartment of Medicine, Epilepsy Research Centre, University of Melbourne, Heidelberg 3084, Australia.en_US
dc.identifier.affiliationThe Walter and Eliza Hall Institute of Medical Research, Parkville 3052, Australia.;Department of Medical Biology, University of Melbourne, Parkville 3052, Australia.en_US
dc.identifier.affiliationAdelaide Medical School, The University of Adelaide, Adelaide 5000, Australia.;Neurogenetics Research Program, South Australian Health and Medical Research Institute, Adelaide 5000, Australia.en_US
dc.identifier.affiliationDepartment of Neurology, Children's Hospital, Philadelphia, PA 19104, USA.en_US
dc.identifier.affiliationDevelopmental Neurosciences Department, UCL Great Ormond Street Institute of Child Health, London, UK.en_US
dc.identifier.affiliationDevelopmental Neurosciences Department, UCL Great Ormond Street Institute of Child Health, London, UK.en_US
dc.identifier.affiliationLaboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20892, USA.;Genomics and Computational Biology Core, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20892, USA.en_US
dc.identifier.affiliationSchool of Science, STEM College, RMIT University, Melbourne 3001, Australia.en_US
dc.identifier.affiliationLaboratory of Communication Disorders, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20892-2320, USA.en_US
dc.identifier.affiliationMurdoch Children's Research Institute, Parkville 3052, Australia.;Florey Institute of Neuroscience and Mental Health, University of Melbourne, 3052, Parkville 3052, Australia.;Department of Medicine, Epilepsy Research Centre, University of Melbourne, Heidelberg 3084, Australia.;Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville 3052, Australia.en_US
dc.identifier.affiliationDepartment of Neuroscience, Central Clinical School, Monash University, Melbourne 3004, Australia.en_US
dc.identifier.affiliationThe Walter and Eliza Hall Institute of Medical Research, Parkville 3052, Australia.;Department of Medical Biology, University of Melbourne, Parkville 3052, Australia.;School of Mathematics and Statistics, University of Melbourne, 3010 Parkville, Australia.en_US
dc.identifier.affiliationEpilepsy Research Centreen_US
dc.identifier.doi10.1093/brain/awad314en_US
dc.type.contentTexten_US
dc.identifier.orcid0000-0003-1147-7405en_US
dc.identifier.orcid0000-0001-9298-3072en_US
dc.identifier.orcid0000-0002-7884-6861en_US
dc.identifier.orcid0000-0003-3096-0910en_US
dc.identifier.orcid0000-0002-7535-8651en_US
dc.identifier.orcid0000-0001-5132-0774en_US
dc.identifier.orcid0000-0003-2739-0515en_US
dc.identifier.pubmedid37977818-
item.fulltextNo Fulltext-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.openairetypeJournal Article-
item.languageiso639-1en-
item.cerifentitytypePublications-
item.grantfulltextnone-
crisitem.author.deptEpilepsy Research Centre-
crisitem.author.deptEpilepsy Research Centre-
crisitem.author.deptEpilepsy Research Centre-
crisitem.author.deptMedicine (University of Melbourne)-
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