Neuroanatomical anomalies associated with rare AP4E1 mutations in people who stutter

Snowdrop · Feb 19, 2022

Not ME related but stuttering has been associated with anxiety. Apparently they think they have found underlying biology and are working on a drug treatment. Lucky stutterers (well maybe).

Here's the research abstract (2021):

https://pubmed.ncbi.nlm.nih.gov/34859215/

Developmental stuttering is a common speech disorder with strong genetic underpinnings. Recently, stuttering has been associated with mutations in genes involved in lysosomal enzyme trafficking.
Click to expand...

Compared to controls, mutation carriers showed reduced grey matter volume in the thalamus, visual areas and the posterior cingulate cortex. Moreover, reduced fractional anisotropy was observed in the corpus callosum,
Click to expand...

Here's a Canadian news item discussing the findings:

https://www.ctvnews.ca/health/unravelling-the-biology-of-a-mysterious-condition-stuttering-1.5788439

For centuries, people have feared being judged for stuttering, a condition often misunderstood as a psychological problem caused by things like bad parenting or emotional trauma. But research presented at a science conference on Saturday explores its biological underpinnings: genetics and brain differences.
Click to expand...

I can't of course speak to the validity of findings. So, just for anyone's interest.

Log in or Sign up

Neuroanatomical anomalies associated with rare AP4E1 mutations in people who stutter

Snowdrop Senior Member (Voting Rights)

Share This Page

Log in or Sign up

Neuroanatomical anomalies associated with rare AP4E1 mutations in people who stutter

Snowdrop Senior Member (Voting Rights)

Share This Page

Useful Searches