Kristopher T. Kahle

Live brain biopsy during CSF shunt surgery for precision diagnostics and multi-omic research

Diagnostic testing and neurosurgical management involving CSF shunting in patients with idiopathic normal pressure hydrocephalus (iNPH) offers a unique, ethically sustainable opportunity to study the aging human brain. The common co-occurrence of neurodegenerative pathologies such as amyloid-β plaques and neurofibril...

Chiari I malformation

Chiari I Malformation as a Human Disease Model of Cerebellar Cognitive–Affective Dysfunction

De novo chromatin remodelling variants in sporadic Chiari 1 malformation.

Exome sequencing may complement surgical evaluation of children with sporadic CM1, particularly when accompanied by neurodevelopmental concerns, informing prognosis and family counseling, and implicating genetically encoded dysregulation of cerebellar development as a central disease mechanism.