By Professor Michael Hildebrand, Austin Health and University of Melbourne and


Professor Angela Morgan, Murdoch Children’s Research Institute and University of Melbourne


RESEARCHERS HAVE LINKED A NEWLY DISCOVERED GENE TO PERSISTENT STUTTERING INTO ADULTHOOD, GIVING HOPE TO THOSE WITH SEVERE SPEECH DISORDERS


To test this, we generated a mouse model with the same gene defect, and the mice developed structural changes in similar brain regions to those of the family members with stuttering. This includes abnormalities of the corticospinal tracts which support speech and language development.


We have known for some time that there is a genetic link to stuttering, but this study is the first to show that genetic changes passed on in families can alter brain development leading to structural anomalies that underly stuttering.


This suggests we should change the genetic diagnostic protocol for some people who stutter to include brain imaging studies.


The study also opens up further research into this new chaperone pathway, and related pathways, which will continue to improve our understanding of the genetic architecture of persistent developmental stuttering.


FIGURE 1


FIGURE 2


Figure 1. Family with Persistent Developmental stuttering and PPID Gene Variant. A Pedigree showing segregation of c.808C>T (p.Pro270Ser) missense variant in PPID.


Figure 2. Brain Imaging of Mouse Model with the Same PPID Gene Variant as the Family. Bird’s eye view of a mouse brain with the corticospinal tracts highlighted. The tracts are white matter bundles that connect the spinal cord (not shown) to the motor cortex and have developed abnormally due to the PPID variant.


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