Novel <i>KRIT1</i> Mutation and No Molecular Evidence of Anticipation in a Family with Cerebral and Spinal Cavernous Malformations

Abstract

We could not find any evidence for either of the two currently known molecular mechanisms for genetic anticipation (i.e., expansion of repetitive DNA elements or progressive telomere shortening) in this family. However, the family presented here raises the important question whether surveillance of CCM families with gradient-echo MRI should not only include the cerebrum, but the spinal cord as well.