Deformed Syne-1 protein disrupts normal Purkinje cell functions and impairs its signalling with cerebellar neurons.
Some domestic animals can develop a condition where the Purkinje cells begin to atrophy shortly after birth, called Cerebellar abiotrophy.
As a co-founder of Purkinje, he pioneered the commercial use of controlled medical vocabulary organized as directed semantic networks in electronic medical records (1st clinical ontology available commercially), as well as Pen computing for clinicians.