What is it about?
Using sophisticated population genetic techniques, this study looked at large group of Utah families (over 2 million) and found that Chiari 1 malformation tends to be clustered into high-risk pedigrees, strongly arguing for a genetic basis of the disease.
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Why is it important?
Other small studies have demonstrated a familial tendency for Chiari 1 malformation, but this is the first study, using a large population data bank, that proves it.
Perspectives
It was a great pleasure working with my co-authors at the Utah Population Data Bank to put this study together.
Douglas Brockmeyer
University of Utah
Read the Original
This page is a summary of: Population-based description of familial clustering of Chiari malformation Type I, Journal of Neurosurgery, February 2018, Journal of Neurosurgery Publishing Group (JNSPG),
DOI: 10.3171/2016.9.jns161274.
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